Variant report

Variant	nsv970082
Chromosome Location	chr6:26122853-26124775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:949)
CpG islands
(count:855)
Chromatin interactive
region (count:136)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:26122827-26124601	K562	blood:	n/a	chr6:26124490-26124502
2	ARID3A	chr6:26123984-26124819	HepG2	liver:	n/a	chr6:26124490-26124502
3	ARID3A	chr6:26122838-26123621	HepG2	liver:	n/a	n/a
4	ATF1	chr6:26122682-26123583	K562	blood:	n/a	n/a
5	ATF1	chr6:26123979-26124531	K562	blood:	n/a	n/a
6	ATF2	chr6:26122582-26127052	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:26122847-26125185	GM12878	blood:	n/a	n/a
8	ATF2	chr6:26122839-26124768	GM12878	blood:	n/a	n/a
9	ATF2	chr6:26122590-26125042	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr6:26122579-26123726	K562	blood:	n/a	n/a
11	ATF3	chr6:26122980-26124669	A549	lung:	n/a	n/a
12	ATF3	chr6:26123841-26124580	A549	lung:	n/a	n/a
13	BACH1	chr6:26122349-26123653	K562	blood:	n/a	n/a
14	BATF	chr6:26123066-26123465	GM12878	blood:	n/a	n/a
15	BATF	chr6:26123656-26124189	GM12878	blood:	n/a	n/a
16	BCL11A	chr6:26123663-26124225	GM12878	blood:	n/a	n/a
17	BCL11A	chr6:26123719-26124090	GM12878	blood:	n/a	n/a
18	BCL11A	chr6:26123161-26123642	GM12878	blood:	n/a	n/a
19	BCL3	chr6:26122868-26124718	A549	lung:	n/a	n/a
20	BCL3	chr6:26123015-26123652	K562	blood:	n/a	n/a
21	BCL3	chr6:26122988-26124972	A549	lung:	n/a	n/a
22	BCLAF1	chr6:26120463-26129092	K562	blood:	n/a	chr6:26126779-26126788 chr6:26122722-26122731 chr6:26125896-26125905
23	BCLAF1	chr6:26122252-26127868	K562	blood:	n/a	chr6:26126779-26126788 chr6:26122722-26122731 chr6:26125896-26125905
24	BCLAF1	chr6:26123036-26125536	GM12878	blood:	n/a	n/a
25	BCLAF1	chr6:26122860-26125297	GM12878	blood:	n/a	n/a
26	BHLHE40	chr6:26122706-26123528	K562	blood:	n/a	n/a
27	BHLHE40	chr6:26123937-26124926	K562	blood:	n/a	n/a
28	BHLHE40	chr6:26122850-26124589	GM12878	blood:	n/a	n/a
29	BRCA1	chr6:26123055-26123731	Hela-S3	cervix:	n/a	n/a
30	BRCA1	chr6:26123900-26124685	GM12878	blood:	n/a	n/a
31	BRCA1	chr6:26123959-26124845	HepG2	liver:	n/a	n/a
32	BRCA1	chr6:26123962-26124660	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr6:26123099-26123617	HepG2	liver:	n/a	n/a
34	CBX3	chr6:26123810-26124658	K562	blood:	n/a	n/a
35	CBX3	chr6:26123039-26123609	K562	blood:	n/a	n/a
36	CBX3	chr6:26122602-26124928	K562	blood:	n/a	n/a
37	CBX3	chr6:26122638-26124771	HCT-116	colon:	n/a	n/a
38	CCNT2	chr6:26123188-26124802	K562	blood:	n/a	n/a
39	CEBPB	chr6:26122889-26123573	HepG2	liver:	n/a	n/a
40	CEBPB	chr6:26123012-26123668	MCF-7	breast:	n/a	n/a
41	CEBPB	chr6:26123842-26124642	K562	blood:	n/a	n/a
42	CEBPB	chr6:26123932-26124573	GM12878	blood:	n/a	n/a
43	CEBPB	chr6:26122934-26123704	A549	lung:	n/a	n/a
44	CEBPB	chr6:26123045-26123517	HepG2	liver:	n/a	n/a
45	CEBPB	chr6:26124044-26124619	HepG2	liver:	n/a	n/a
46	CEBPB	chr6:26123883-26124699	A549	lung:	n/a	n/a
47	CEBPB	chr6:26123142-26123460	K562	blood:	n/a	n/a
48	CEBPB	chr6:26122908-26123706	ECC-1	luminal epithelium:	n/a	n/a
49	CEBPB	chr6:26124262-26124600	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr6:26123147-26123561	GM12878	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26124504-26124554	HMEC	breast:	n/a
2	chr6:26124504-26124554	HMEC	breast:	n/a
3	chr6:26124417-26124467	AoSMC	blood vessel:	n/a
4	chr6:26123398-26123448	HNPCEpiC	eye:	n/a
5	chr6:26123398-26123448	ProgFib	skin:	n/a
6	chr6:26123398-26123448	AG04450	lung:	fetal
7	chr6:26124345-26124395	AG09309	skin:	n/a
8	chr6:26123468-26123518	LNCaP	prostate:	n/a
9	chr6:26124704-26124754	NHDF-neo	bronchial:	n/a
10	chr6:26123458-26123508	HCPEpiC	choroid plexus:	n/a
11	chr6:26124329-26124379	SAEC	small airway:	n/a
12	chr6:26124504-26124554	Jurkat	blood:	n/a
13	chr6:26124601-26124651	HEK293	kidney:	embryo
14	chr6:26124167-26124217	HCF	heart:	n/a
15	chr6:26123398-26123448	PrEC	prostate:	n/a
16	chr6:26124167-26124217	HUVEC	blood vessel:	n/a
17	chr6:26124504-26124554	PFSK-1	brain:	n/a
18	chr6:26123228-26123278	Jurkat	blood:	n/a
19	chr6:26124417-26124467	PrEC	prostate:	n/a
20	chr6:26123736-26123786	Caco-2	colon:	n/a
21	chr6:26124167-26124217	PFSK-1	brain:	n/a
22	chr6:26124704-26124754	U87	brain:	n/a
23	chr6:26123398-26123448	HL-60	blood:	n/a
24	chr6:26124329-26124379	AG04449	skin:	fetal
25	chr6:26123736-26123786	SKMC	muscle:	n/a
26	chr6:26124345-26124395	SK-N-SH_RA	brain:	n/a
27	chr6:26124704-26124754	HCPEpiC	choroid plexus:	n/a
28	chr6:26123458-26123508	AG04450	lung:	fetal
29	chr6:26123228-26123278	BJ	skin:	n/a
30	chr6:26123228-26123278	HCPEpiC	choroid plexus:	n/a
31	chr6:26124417-26124467	BJ	skin:	n/a
32	chr6:26124704-26124754	MCF10A-Er-Src	breast:	n/a
33	chr6:26124504-26124554	ovcar-3	ovarian:	n/a
34	chr6:26123228-26123278	Hela-S3	cervix:	n/a
35	chr6:26124704-26124754	HUVEC	blood vessel:	n/a
36	chr6:26124345-26124395	H1-hESC	embryonic stem cell:	embryo
37	chr6:26123915-26123965	CMK	blood:	n/a
38	chr6:26123398-26123448	K562	blood:	n/a
39	chr6:26123228-26123278	HCM	heart:	n/a
40	chr6:26124345-26124395	SKMC	muscle:	n/a
41	chr6:26124601-26124651	BJ	skin:	n/a
42	chr6:26123281-26123331	MCF10A-Er-Src	breast:	n/a
43	chr6:26124329-26124379	GM12878	blood:	n/a
44	chr6:26124329-26124379	BE2_C	brain:	n/a
45	chr6:26123228-26123278	NHDF-neo	bronchial:	n/a
46	chr6:26123736-26123786	HL-60	blood:	n/a
47	chr6:26123915-26123965	AG04449	skin:	fetal
48	chr6:26124329-26124379	A549	lung:	n/a
49	chr6:26124504-26124554	LNCaP	prostate:	n/a
50	chr6:26124167-26124217	HMEC	breast:	n/a

(count:136 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr15:72497728..72499574-chr6:26124420..26126089,2	MCF-7	breast:
2	chr6:26119863..26128842-chr6:27096583..27102911,26	K562	blood:
3	chr6:26123837..26124686-chr6:26157659..26158968,4	HCT-116	colon:
4	chr12:57039309..57039864-chr6:26123722..26124692,2	Hela-S3	cervix:
5	chr6:26122958..26124980-chr6:26596151..26598779,2	K562	blood:
6	chr6:26122455..26127911-chr6:27777953..27784057,9	MCF-7	breast:
7	chr6:26033491..26034015-chr6:26123741..26124703,2	Hela-S3	cervix:
8	chr6:26123945..26125914-chr6:26596676..26599538,2	MCF-7	breast:
9	chr12:120728750..120731151-chr6:26122408..26123932,2	MCF-7	breast:
10	chr5:131826235..131826994-chr6:26123977..26124876,2	Hela-S3	cervix:
11	chr18:12947366..12948044-chr6:26124586..26125548,2	Hela-S3	cervix:
12	chr6:26124305..26124938-chr8:8243493..8244064,2	HCT-116	colon:
13	chr6:26123030..26125902-chr6:43596197..43598977,2	MCF-7	breast:
14	chr6:26122193..26124669-chr6:27781205..27782892,3	MCF-7	breast:
15	chr15:97279669..97280667-chr6:26124490..26125013,2	MCF-7	breast:
16	chr3:160116717..160117703-chr6:26124014..26125025,3	Hela-S3	cervix:
17	chr17:77768640..77771440-chr6:26122363..26124849,2	MCF-7	breast:
18	chr6:26122811..26125684-chr6:26519933..26522732,4	K562	blood:
19	chr21:44395301..44396096-chr6:26123159..26123981,2	Hela-S3	cervix:
20	chr11:17297568..17298688-chr6:26123742..26124744,3	Hela-S3	cervix:
21	chr6:26123627..26125056-chr6:26157699..26158576,4	Hela-S3	cervix:
22	chr6:26122616..26125832-chr6:27791584..27793805,3	K562	blood:
23	chr6:26123115..26123621-chr6:26157745..26158457,2	HCT-116	colon:
24	chr1:149223816..149224352-chr6:26123704..26124591,2	Hela-S3	cervix:
25	chr6:26124249..26127079-chr6:27774998..27777814,2	MCF-7	breast:
26	chr11:65273507..65275023-chr6:26121224..26123950,2	K562	blood:
27	chr14:100705400..100707404-chr6:26123077..26125052,2	MCF-7	breast:
28	chr1:149857091..149860702-chr6:26123340..26126187,3	MCF-7	breast:
29	chr19:16652794..16653665-chr6:26123619..26124196,2	Hela-S3	cervix:
30	chr16:68589688..68592396-chr6:26122014..26124256,2	MCF-7	breast:
31	chr6:26123935..26124617-chrX:69509644..69510498,2	Hela-S3	cervix:
32	chr1:853931..856042-chr6:26122746..26124318,2	MCF-7	breast:
33	chr19:16682796..16683592-chr6:26123802..26124536,2	Hela-S3	cervix:
34	chr6:25726943..25728808-chr6:26121898..26123990,2	K562	blood:
35	chr14:92301896..92304866-chr6:26122642..26125225,2	MCF-7	breast:
36	chr17:62222981..62223792-chr6:26124304..26124897,2	Hela-S3	cervix:
37	chr6:26123260..26124210-chr6:33175981..33176679,2	HCT-116	colon:
38	chr20:47894862..47895418-chr6:26123808..26124481,2	Hela-S3	cervix:
39	chr5:176943515..176944451-chr6:26124410..26125053,2	Hela-S3	cervix:
40	chr5:40678741..40679756-chr6:26123548..26124204,3	Hela-S3	cervix:
41	chr6:26123490..26124560-chr6:27099440..27100635,4	Hela-S3	cervix:
42	chr6:26124476..26125172-chr7:4815282..4816227,2	Hela-S3	cervix:
43	chr13:42614178..42615159-chr6:26123039..26124034,3	Hela-S3	cervix:
44	chr19:17354916..17355830-chr6:26123340..26124086,2	Hela-S3	cervix:
45	chr1:161719167..161719902-chr6:26124018..26124853,2	Hela-S3	cervix:
46	chr6:26120836..26126141-chr6:27110374..27116911,13	K562	blood:
47	chr19:49138216..49138781-chr6:26123309..26123814,2	NB4	blood:
48	chr17:57913398..57916959-chr6:26122368..26124244,3	MCF-7	breast:
49	chr5:138940231..138940758-chr6:26124166..26124760,2	Hela-S3	cervix:
50	chr3:156877450..156878143-chr6:26124036..26124672,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
HIST1H2AC	TF binding region
HIST1H2BC	TF binding region
HIST1H2AC	CpG island
HIST1H2BC	CpG island
ENSG00000137259	chromatin interactions
ENSG00000184939	chromatin interactions
ENSG00000070081	chromatin interactions
ENSG00000141570	chromatin interactions
ENSG00000103047	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000196532	chromatin interactions
ENSG00000258458	chromatin interactions
ENSG00000173486	chromatin interactions
ENSG00000068885	chromatin interactions
ENSG00000163435	chromatin interactions
ENSG00000129667	chromatin interactions
ENSG00000067225	chromatin interactions
ENSG00000182944	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000078043	chromatin interactions
ENSG00000146047	chromatin interactions
ENSG00000075426	chromatin interactions
ENSG00000213722	chromatin interactions
ENSG00000196226	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000184357	chromatin interactions
ENSG00000250588	chromatin interactions
ENSG00000266402	chromatin interactions
ENSG00000196374	chromatin interactions
ENSG00000245534	chromatin interactions
ENSG00000225721	chromatin interactions
ENSG00000173540	chromatin interactions
ENSG00000199753	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000138772	chromatin interactions
ENSG00000102977	chromatin interactions
ENSG00000164040	chromatin interactions
ENSG00000101181	chromatin interactions
ENSG00000141543	chromatin interactions
ENSG00000234816	chromatin interactions
ENSG00000167658	chromatin interactions
ENSG00000146109	chromatin interactions
ENSG00000197061	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000100445	chromatin interactions
ENSG00000124693	chromatin interactions
ENSG00000155463	chromatin interactions
ENSG00000189223	chromatin interactions
ENSG00000090889	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000125347	chromatin interactions
ENSG00000124659	chromatin interactions
ENSG00000265855	chromatin interactions
ENSG00000185130	chromatin interactions
ENSG00000187049	chromatin interactions
ENSG00000137502	chromatin interactions
ENSG00000130340	chromatin interactions
ENSG00000197238	chromatin interactions
ENSG00000131508	chromatin interactions
ENSG00000100811	chromatin interactions
ENSG00000085872	chromatin interactions
ENSG00000197846	chromatin interactions
ENSG00000142937	chromatin interactions
ENSG00000198366	chromatin interactions
ENSG00000187837	chromatin interactions
ENSG00000181817	chromatin interactions
ENSG00000132394	chromatin interactions
ENSG00000138468	chromatin interactions
ENSG00000158406	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000085491	chromatin interactions
ENSG00000109736	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000128915	chromatin interactions
ENSG00000127526	chromatin interactions
ENSG00000181163	chromatin interactions
ENSG00000223764	chromatin interactions
ENSG00000234678	chromatin interactions
ENSG00000120509	chromatin interactions
ENSG00000167216	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000205189	chromatin interactions
ENSG00000006652	chromatin interactions
ENSG00000163882	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000183258	chromatin interactions
ENSG00000182611	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000142632	chromatin interactions
ENSG00000181019	chromatin interactions
ENSG00000197409	chromatin interactions
ENSG00000182319	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000140988	chromatin interactions
ENSG00000060749	chromatin interactions
ENSG00000100263	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000182768	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000065150	chromatin interactions
ENSG00000228223	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000264294	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000249673	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000242802	chromatin interactions
ENSG00000200913	chromatin interactions
ENSG00000263002	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000198408	chromatin interactions
ENSG00000196747	chromatin interactions
ENSG00000198558	chromatin interactions
ENSG00000124610	chromatin interactions
ENSG00000204227	chromatin interactions
ENSG00000108854	chromatin interactions
ENSG00000081721	chromatin interactions
ENSG00000172432	chromatin interactions
ENSG00000137601	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000172115	chromatin interactions
ENSG00000105220	chromatin interactions
ENSG00000090054	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000196866	chromatin interactions
ENSG00000182572	chromatin interactions
ENSG00000160113	chromatin interactions
ENSG00000165929	chromatin interactions
ENSG00000124688	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000246067	chromatin interactions
ENSG00000125450	chromatin interactions
ENSG00000164508	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000125618	chromatin interactions
ENSG00000104472	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000175792	chromatin interactions
ENSG00000113810	chromatin interactions
ENSG00000119392	chromatin interactions
ENSG00000199289	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000156860	chromatin interactions

Extended variants
information (count: 154 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553829211	chr6:26122871-26122872	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
2	rs371897392	chr6:26122875-26122876	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	36 gene(s)	Overlapped CNVs	n/a
3	rs577406287	chr6:26122912-26122913	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
4	rs540011248	chr6:26122921-26122922	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
5	rs556926819	chr6:26122927-26122928	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
6	rs198823	chr6:26122933-26122934	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs13200797	chr6:26122957-26122958	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	38 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs562019399	chr6:26123032-26123033	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
9	rs572503887	chr6:26123086-26123087	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
10	rs541210402	chr6:26123092-26123093	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
11	rs530910509	chr6:26123109-26123110	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	48 gene(s)	Overlapped CNVs	n/a
12	rs192513001	chr6:26123144-26123145	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
13	rs532240642	chr6:26123147-26123148	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
14	rs140016006	chr6:26123171-26123172	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
15	rs373830897	chr6:26123179-26123180	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
16	rs143499056	chr6:26123192-26123193	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
17	rs77919048	chr6:26123208-26123209	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
18	rs112804686	chr6:26123218-26123219	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
19	rs547786423	chr6:26123230-26123231	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	49 gene(s)	Overlapped CNVs	n/a
20	rs185079171	chr6:26123267-26123268	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	51 gene(s)	Overlapped CNVs	n/a
21	rs151214127	chr6:26123291-26123292	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
22	rs111229486	chr6:26123299-26123300	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
23	rs570507586	chr6:26123313-26123314	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	52 gene(s)	Overlapped CNVs	n/a
24	rs370170580	chr6:26123353-26123354	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
25	rs556762893	chr6:26123383-26123384	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	57 gene(s)	Overlapped CNVs	n/a
26	rs576820281	chr6:26123396-26123397	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	58 gene(s)	Overlapped CNVs	n/a
27	rs536106943	chr6:26123410-26123411	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	61 gene(s)	Overlapped CNVs	n/a
28	rs556090270	chr6:26123429-26123430	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	63 gene(s)	Overlapped CNVs	n/a
29	rs572386413	chr6:26123467-26123468	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	66 gene(s)	Overlapped CNVs	n/a
30	rs189927783	chr6:26123474-26123475	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
31	rs372638594	chr6:26123476-26123477	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
32	rs564451499	chr6:26123482-26123483	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
33	rs115740542	chr6:26123502-26123503	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	mRNA abundance
34	rs545608798	chr6:26123505-26123506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	67 gene(s)	Overlapped CNVs	n/a
35	rs532539925	chr6:26123517-26123518	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	68 gene(s)	Overlapped CNVs	n/a
36	rs198822	chr6:26123539-26123540	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	71 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs566810063	chr6:26123543-26123544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	71 gene(s)	Overlapped CNVs	n/a
38	rs59995466	chr6:26123547-26123548	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	71 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548119883	chr6:26123558-26123559	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
40	rs561633884	chr6:26123594-26123595	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
41	rs527319274	chr6:26123601-26123602	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
42	rs547345212	chr6:26123612-26123613	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	73 gene(s)	Overlapped CNVs	n/a
43	rs570471579	chr6:26123621-26123622	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	75 gene(s)	Overlapped CNVs	n/a
44	rs539481947	chr6:26123626-26123627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	74 gene(s)	Overlapped CNVs	n/a
45	rs198821	chr6:26123629-26123630	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	76 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs116104991	chr6:26123632-26123633	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
47	rs549225831	chr6:26123648-26123649	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
48	rs28365923	chr6:26123649-26123650	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	76 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537609928	chr6:26123650-26123651	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a
50	rs189531424	chr6:26123656-26123657	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	76 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Autism	22495309	CNVD
Lung cancer	21569311	CNVD
Breast cancer	21509527	CNVD
Autism	20808228	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26119600-26123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:26121600-26123200	Flanking Active TSS	Liver	Liver
3	chr6:26121800-26125400	Active TSS	K562	blood
4	chr6:26122400-26123000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr6:26122400-26123000	Flanking Active TSS	A549	lung
6	chr6:26122400-26123000	Flanking Active TSS	HMEC	breast
7	chr6:26122400-26123200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:26122400-26123200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:26122400-26123200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:26122400-26123200	Flanking Active TSS	Dnd41	blood
11	chr6:26122400-26123200	Flanking Active TSS	Hela-S3	cervix
12	chr6:26122400-26123200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr6:26122400-26123400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:26122400-26123400	Flanking Active TSS	Fetal Thymus	thymus
15	chr6:26122400-26127800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:26122600-26123000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:26122600-26123000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:26122600-26123000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr6:26122600-26123000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:26122600-26123000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:26122600-26123000	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr6:26122600-26123000	Flanking Active TSS	Colon Smooth Muscle	Colon
23	chr6:26122600-26123000	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr6:26122600-26123000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr6:26122600-26123000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr6:26122600-26123000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr6:26122600-26123000	Flanking Active TSS	Thymus	Thymus
28	chr6:26122600-26123200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:26122600-26123200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr6:26122600-26123200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr6:26122600-26123200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr6:26122600-26123200	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr6:26122600-26123200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr6:26122600-26123200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:26122600-26123200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:26122600-26123200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:26122600-26123200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr6:26122600-26123200	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr6:26122600-26123200	Flanking Active TSS	HSMMtube	muscle
40	chr6:26122600-26123200	Flanking Active TSS	NH-A	brain
41	chr6:26122600-26123200	Flanking Active TSS	Osteobl	bone
42	chr6:26122600-26123400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr6:26122600-26123800	Active TSS	Brain Germinal Matrix	brain
44	chr6:26122600-26124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:26122600-26126800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:26122600-26127000	Active TSS	Brain Angular Gyrus	brain
47	chr6:26122600-26127000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr6:26122600-26127000	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:26122600-26127200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr6:26122600-26127200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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