Variant report

Variant	esv3423914
Chromosome Location	chr6:24719198-24721746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:24720663-24722092	K562	blood:	n/a	n/a
2	ARID3A	chr6:24719050-24719673	K562	blood:	n/a	n/a
3	ARID3A	chr6:24720826-24722344	HepG2	liver:	n/a	n/a
4	ATF1	chr6:24720932-24722176	K562	blood:	n/a	n/a
5	ATF2	chr6:24720792-24722285	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr6:24720249-24722279	GM12878	blood:	n/a	n/a
7	ATF2	chr6:24719257-24719883	GM12878	blood:	n/a	n/a
8	ATF2	chr6:24719363-24719955	GM12878	blood:	n/a	n/a
9	ATF2	chr6:24720546-24722303	GM12878	blood:	n/a	n/a
10	ATF2	chr6:24720570-24721690	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF3	chr6:24720840-24721731	K562	blood:	n/a	chr6:24721472-24721492 chr6:24721473-24721482 chr6:24721109-24721120 chr6:24721110-24721124 chr6:24721480-24721495
12	ATF3	chr6:24721299-24721837	H1-hESC	embryonic stem cell:	n/a	chr6:24721472-24721492 chr6:24721473-24721482 chr6:24721480-24721495
13	ATF3	chr6:24721401-24721680	HepG2	liver:	n/a	chr6:24721472-24721492 chr6:24721473-24721482 chr6:24721480-24721495
14	ATF3	chr6:24721349-24721693	K562	blood:	n/a	chr6:24721472-24721492 chr6:24721473-24721482 chr6:24721480-24721495
15	BACH1	chr6:24720097-24720124	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr6:24721437-24721765	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr6:24719419-24720157	K562	blood:	n/a	n/a
18	BACH1	chr6:24719548-24719840	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr6:24721177-24722081	GM12878	blood:	n/a	chr6:24721481-24721494
20	BATF	chr6:24719506-24719895	GM12878	blood:	n/a	n/a
21	BCL11A	chr6:24719483-24720099	GM12878	blood:	n/a	n/a
22	BCL3	chr6:24720199-24720666	A549	lung:	n/a	chr6:24720401-24720410 chr6:24720470-24720483 chr6:24720402-24720411 chr6:24720596-24720609
23	BCL3	chr6:24720248-24720690	GM12878	blood:	n/a	chr6:24720401-24720410 chr6:24720470-24720483 chr6:24720402-24720411 chr6:24720596-24720609
24	BCL3	chr6:24720791-24721234	A549	lung:	n/a	n/a
25	BCL3	chr6:24720711-24721495	A549	lung:	n/a	chr6:24720787-24720796
26	BCL3	chr6:24721617-24722260	A549	lung:	n/a	chr6:24721652-24721661 chr6:24721802-24721815
27	BCL3	chr6:24720754-24721200	GM12878	blood:	n/a	chr6:24720787-24720796
28	BCL3	chr6:24720312-24720709	GM12878	blood:	n/a	chr6:24720401-24720410 chr6:24720470-24720483 chr6:24720402-24720411 chr6:24720596-24720609
29	BCLAF1	chr6:24720249-24722284	GM12878	blood:	n/a	chr6:24720401-24720410 chr6:24720470-24720483 chr6:24721652-24721661 chr6:24720402-24720411 chr6:24720787-24720796 chr6:24721802-24721815 chr6:24720596-24720609
30	BCLAF1	chr6:24719156-24719911	GM12878	blood:	n/a	chr6:24719317-24719326 chr6:24719453-24719462
31	BCLAF1	chr6:24721321-24722246	GM12878	blood:	n/a	chr6:24721652-24721661 chr6:24721802-24721815
32	BCLAF1	chr6:24718763-24720082	GM12878	blood:	n/a	chr6:24719317-24719326 chr6:24719453-24719462
33	BCLAF1	chr6:24720236-24721283	GM12878	blood:	n/a	chr6:24720401-24720410 chr6:24720470-24720483 chr6:24720402-24720411 chr6:24720787-24720796 chr6:24720596-24720609
34	BHLHE40	chr6:24720309-24722216	GM12878	blood:	n/a	chr6:24720625-24720641 chr6:24720633-24720649 chr6:24721097-24721113
35	BHLHE40	chr6:24720460-24722377	K562	blood:	n/a	chr6:24720625-24720641 chr6:24720633-24720649 chr6:24721097-24721113
36	BHLHE40	chr6:24721022-24722089	A549	lung:	n/a	chr6:24721097-24721113
37	BHLHE40	chr6:24720567-24722250	HepG2	liver:	n/a	chr6:24720625-24720641 chr6:24720633-24720649 chr6:24721097-24721113
38	BRCA1	chr6:24720614-24722165	HepG2	liver:	n/a	n/a
39	BRCA1	chr6:24720839-24722068	Hela-S3	cervix:	n/a	n/a
40	BRCA1	chr6:24721026-24721696	H1-hESC	embryonic stem cell:	n/a	n/a
41	BRCA1	chr6:24720339-24720600	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr6:24719708-24719758	GM12878	blood:	n/a	n/a
43	BRCA1	chr6:24720842-24721440	GM12878	blood:	n/a	n/a
44	CBX3	chr6:24721081-24722265	K562	blood:	n/a	n/a
45	CBX3	chr6:24720803-24722385	K562	blood:	n/a	n/a
46	CCNT2	chr6:24719491-24721972	K562	blood:	n/a	chr6:24720055-24720064
47	CEBPB	chr6:24721257-24721694	MCF-7	breast:	n/a	n/a
48	CEBPB	chr6:24720868-24722043	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr6:24721157-24722001	K562	blood:	n/a	n/a
50	CEBPB	chr6:24720318-24722357	GM12878	blood:	n/a	chr6:24722202-24722210

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:24720818-24720868	GM12892	blood:	n/a
2	chr6:24721528-24721578	ovcar-3	ovarian:	n/a
3	chr6:24721060-24721110	CMK	blood:	n/a
4	chr6:24720818-24720868	GM12892	blood:	n/a
5	chr6:24721528-24721578	ovcar-3	ovarian:	n/a
6	chr6:24721060-24721110	CMK	blood:	n/a
7	chr6:24721528-24721578	T-47D	breast:	n/a
8	chr6:24720818-24720868	GM06990	blood:	n/a
9	chr6:24721266-24721316	HCM	heart:	n/a
10	chr6:24719812-24719862	HRPEpiC	eye:	n/a
11	chr6:24721656-24721706	HCPEpiC	choroid plexus:	n/a
12	chr6:24721266-24721316	HMEC	breast:	n/a
13	chr6:24719812-24719862	CMK	blood:	n/a
14	chr6:24721528-24721578	SK-N-SH	brain:	n/a
15	chr6:24721528-24721578	NB4	blood:	n/a
16	chr6:24721266-24721316	BJ	skin:	n/a
17	chr6:24719812-24719862	MCF10A-Er-Src	breast:	n/a
18	chr6:24719988-24720038	A549	lung:	n/a
19	chr6:24721060-24721110	SAEC	small airway:	n/a
20	chr6:24719235-24719285	AG04449	skin:	fetal
21	chr6:24720818-24720868	HepG2	liver:	n/a
22	chr6:24721656-24721706	RPTEC	kidney:	n/a
23	chr6:24720150-24720200	HEK293	kidney:	embryo
24	chr6:24721266-24721316	NB4	blood:	n/a
25	chr6:24721060-24721110	BJ	skin:	n/a
26	chr6:24721656-24721706	MCF-7	breast:	n/a
27	chr6:24719812-24719862	Caco-2	colon:	n/a
28	chr6:24721528-24721578	Hepatocyte	liver:	n/a
29	chr6:24721394-24721444	HPAEpiC	pulmonary alveolar:	n/a
30	chr6:24719988-24720038	CMK	blood:	n/a
31	chr6:24721528-24721578	ECC-1	luminal epithelium:	n/a
32	chr6:24720150-24720200	GM12892	blood:	n/a
33	chr6:24719812-24719862	HAEpiC	amniotic membrane:	n/a
34	chr6:24719235-24719285	NH-A	brain:	n/a
35	chr6:24719988-24720038	SK-N-SH_RA	brain:	n/a
36	chr6:24719988-24720038	HepG2	liver:	n/a
37	chr6:24719235-24719285	HPAEpiC	pulmonary alveolar:	n/a
38	chr6:24721656-24721706	BJ	skin:	n/a
39	chr6:24721528-24721578	HCT-116	colon:	n/a
40	chr6:24720150-24720200	AG04450	lung:	fetal
41	chr6:24719812-24719862	ProgFib	skin:	n/a
42	chr6:24719235-24719285	HNPCEpiC	eye:	n/a
43	chr6:24721656-24721706	AG09309	skin:	n/a
44	chr6:24719235-24719285	NHDF-neo	bronchial:	n/a
45	chr6:24721266-24721316	AG04450	lung:	fetal
46	chr6:24721394-24721444	CMK	blood:	n/a
47	chr6:24721528-24721578	K562	blood:	n/a
48	chr6:24721656-24721706	HCF	heart:	n/a
49	chr6:24720150-24720200	AG09319	gingival:	n/a
50	chr6:24721656-24721706	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:24659286..24660892-chr6:24721746..24723397,2	MCF-7	breast:
2	chr15:22832998..22833888-chr6:24720600..24721120,2	Hela-S3	cervix:
3	chr6:24665870..24668527-chr6:24717869..24719492,2	MCF-7	breast:
4	chr19:55727413..55728309-chr6:24721650..24722152,2	Hela-S3	cervix:
5	chr1:36690058..36690572-chr6:24721190..24722056,2	Hela-S3	cervix:
6	chr4:129730688..129731418-chr6:24720530..24721134,2	Hela-S3	cervix:
7	chr6:24719858..24721554-chr6:25106494..25110308,3	MCF-7	breast:
8	chr17:80186268..80187089-chr6:24721445..24722067,2	HCT-116	colon:
9	chr18:32821000..32821510-chr6:24721408..24722055,2	Hela-S3	cervix:
10	chr5:36241334..36243447-chr6:24720553..24722359,2	K562	blood:
11	chr17:7387539..7388163-chr6:24720560..24721067,2	Hela-S3	cervix:
12	chr6:24492199..24495699-chr6:24718792..24721987,5	K562	blood:
13	chr12:93835218..93835818-chr6:24720128..24720890,2	NB4	blood:
14	chr1:156084468..156085060-chr6:24720951..24721474,2	Hela-S3	cervix:
15	chr12:57039267..57039827-chr6:24720314..24721063,2	Hela-S3	cervix:
16	chr6:24721486..24723774-chr6:24748539..24750202,2	K562	blood:
17	chr10:102822040..102823090-chr6:24720609..24721522,3	Hela-S3	cervix:
18	chr6:24644992..24647314-chr6:24719656..24721157,2	MCF-7	breast:
19	chr6:24666041..24667769-chr6:24719597..24721263,2	MCF-7	breast:
20	chr17:8076344..8077165-chr6:24720254..24721231,2	Hela-S3	cervix:
21	chr6:24718870..24722603-chr6:26025035..26028594,6	K562	blood:
22	chr10:74856143..74856681-chr6:24720587..24721485,2	HCT-116	colon:
23	chr19:41222659..41224181-chr6:24717413..24720247,2	MCF-7	breast:
24	chr6:24720555..24721055-chrX:47517927..47518652,2	Hela-S3	cervix:
25	chr12:57913817..57914668-chr6:24720612..24721518,2	MCF-7	breast:
26	chr6:24718549..24722818-chr6:24771512..24777723,8	MCF-7	breast:
27	chr6:20400126..20404982-chr6:24718144..24722714,11	K562	blood:
28	chr6:24719452..24722494-chr6:24742032..24745228,7	K562	blood:
29	chr6:24657655..24659922-chr6:24720349..24722391,2	K562	blood:
30	chr6:24493014..24496474-chr6:24718971..24722650,4	K562	blood:
31	chr16:57496503..57497105-chr6:24720771..24721407,2	HCT-116	colon:
32	chr15:89877635..89878185-chr6:24720350..24720905,2	HCT-116	colon:
33	chr1:117602549..117603342-chr6:24720361..24721151,2	Hela-S3	cervix:
34	chr1:144533785..144534312-chr6:24720640..24721160,2	Hela-S3	cervix:
35	chr6:24719766..24721631-chr8:99304778..99307612,2	MCF-7	breast:
36	chr6:24720585..24722124-chr7:7679223..7680620,4	Hela-S3	cervix:
37	chr6:24719968..24721731-chr6:26234799..26237042,2	K562	blood:
38	chr12:4429816..4430804-chr6:24720661..24721190,2	Hela-S3	cervix:
39	chr6:24719506..24722494-chr6:24741132..24743826,4	K562	blood:
40	chr3:156806315..156807103-chr6:24721263..24721889,2	Hela-S3	cervix:
41	chr19:37018973..37019502-chr6:24721343..24721894,2	Hela-S3	cervix:
42	chr6:24711892..24724164-chr6:24769415..24786834,81	K562	blood:
43	chr10:116581424..116582241-chr6:24720620..24721196,2	Hela-S3	cervix:
44	chr6:24660920..24672880-chr6:24713381..24723000,42	K562	blood:
45	chr6:24717870..24723661-chr6:24773711..24778808,16	MCF-7	breast:
46	chr15:80189208..80189862-chr6:24721009..24721509,2	HCT-116	colon:
47	chr6:24656525..24658806-chr6:24716394..24719369,2	K562	blood:
48	chr6:24717725..24719805-chr6:24749363..24751038,2	MCF-7	breast:
49	chr11:82996932..82997497-chr6:24720214..24721050,2	Hela-S3	cervix:
50	chr15:83478214..83478879-chr6:24720555..24721193,2	Hela-S3	cervix:

Variant related genes	Relation type
C6orf62	TF binding region
C6orf62	CpG island
ENSG00000219545	chromatin interactions
ENSG00000137261	chromatin interactions
ENSG00000180182	chromatin interactions
ENSG00000105993	chromatin interactions
ENSG00000267649	chromatin interactions
ENSG00000140521	chromatin interactions
ENSG00000228629	chromatin interactions
ENSG00000116830	chromatin interactions
ENSG00000181222	chromatin interactions
ENSG00000086544	chromatin interactions
ENSG00000175197	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000124529	chromatin interactions
ENSG00000124532	chromatin interactions
ENSG00000136371	chromatin interactions
ENSG00000255234	chromatin interactions
ENSG00000160789	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000126756	chromatin interactions
ENSG00000112293	chromatin interactions
ENSG00000122884	chromatin interactions
ENSG00000112294	chromatin interactions
ENSG00000177889	chromatin interactions
ENSG00000272402	chromatin interactions
ENSG00000124575	chromatin interactions
ENSG00000102978	chromatin interactions
ENSG00000174282	chromatin interactions
ENSG00000078237	chromatin interactions
ENSG00000100445	chromatin interactions
ENSG00000186812	chromatin interactions
ENSG00000156232	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000073712	chromatin interactions
ENSG00000141526	chromatin interactions
ENSG00000123815	chromatin interactions
ENSG00000254004	chromatin interactions
ENSG00000111802	chromatin interactions
ENSG00000086712	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000116161	chromatin interactions
ENSG00000112304	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000168405	chromatin interactions
ENSG00000110955	chromatin interactions
ENSG00000224164	chromatin interactions
ENSG00000267064	chromatin interactions
ENSG00000110200	chromatin interactions
ENSG00000166987	chromatin interactions
ENSG00000234636	chromatin interactions
ENSG00000107821	chromatin interactions
ENSG00000111913	chromatin interactions
ENSG00000153575	chromatin interactions
ENSG00000104361	chromatin interactions
ENSG00000077684	chromatin interactions
ENSG00000152620	chromatin interactions
ENSG00000151553	chromatin interactions
ENSG00000112312	chromatin interactions
ENSG00000272345	chromatin interactions
ENSG00000260286	chromatin interactions
ENSG00000218806	chromatin interactions
ENSG00000196176	chromatin interactions
ENSG00000137500	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148467280	chr6:24719200-24719201	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
2	rs193000599	chr6:24719229-24719230	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
3	rs527386250	chr6:24719237-24719238	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs141670198	chr6:24719255-24719256	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
5	rs373511842	chr6:24719270-24719271	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs563918180	chr6:24719297-24719298	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs184509774	chr6:24719321-24719322	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs114410260	chr6:24719324-24719325	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs530987451	chr6:24719329-24719330	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs569588191	chr6:24719331-24719332	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs529293848	chr6:24719337-24719338	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs79128649	chr6:24719363-24719364	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs371522230	chr6:24719383-24719384	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs397887700	chr6:24719384-24719385	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs74626959	chr6:24719402-24719403	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs142202740	chr6:24719407-24719408	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs571355670	chr6:24719435-24719436	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs534783454	chr6:24719502-24719503	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs552035817	chr6:24719538-24719539	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs571883535	chr6:24719541-24719542	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs537613169	chr6:24719575-24719576	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs189607648	chr6:24719586-24719587	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs181867060	chr6:24719590-24719591	Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs28411390	chr6:24719706-24719707	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs535474207	chr6:24719752-24719753	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs368086038	chr6:24719810-24719811	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs555065891	chr6:24719970-24719971	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs536908728	chr6:24719975-24719976	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs3813687	chr6:24719978-24719979	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs563805270	chr6:24720108-24720109	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs577439102	chr6:24720124-24720125	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs543168502	chr6:24720125-24720126	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs563253898	chr6:24720137-24720138	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs115775074	chr6:24720167-24720168	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
35	rs186336547	chr6:24720177-24720178	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
36	rs148109168	chr6:24720194-24720195	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
37	rs549384544	chr6:24720199-24720200	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
38	rs201430445	chr6:24720200-24720201	Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
39	rs557404214	chr6:24720215-24720216	Active TSS Bivalent/Poised TSS	Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
40	rs559470279	chr6:24720324-24720325	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs528451449	chr6:24720325-24720326	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs374395425	chr6:24720338-24720339	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs571721422	chr6:24720359-24720360	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
44	rs543690158	chr6:24720425-24720426	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs188339436	chr6:24720438-24720439	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
46	rs180702293	chr6:24720448-24720449	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs3841338	chr6:24720513-24720514	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
48	rs68046628	chr6:24720514-24720515	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
49	rs149262186	chr6:24720520-24720521	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
50	rs201841846	chr6:24720523-24720524	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Colorectal cancer	21297112	CNVD
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
Osteosarcoma	16790693	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
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24708800-24719400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:24712800-24719600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
3	chr6:24715000-24719600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:24715200-24719600	Weak transcription	Spleen	Spleen
5	chr6:24715200-24720000	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr6:24716000-24719200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:24716200-24719400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
8	chr6:24716200-24719600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:24716200-24719600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
10	chr6:24716400-24719600	Weak transcription	Esophagus	oesophagus
11	chr6:24716400-24719800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
12	chr6:24716400-24719800	Transcr. at gene 5' and 3'	K562	blood
13	chr6:24716400-24720400	Active TSS	Right Atrium	heart
14	chr6:24716400-24722400	Active TSS	Ovary	ovary
15	chr6:24716600-24719200	Transcr. at gene 5' and 3'	HepG2	liver
16	chr6:24716600-24719600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:24716600-24719600	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:24716600-24719800	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr6:24716600-24720800	Active TSS	Aorta	Aorta
20	chr6:24716600-24722000	Active TSS	Stomach Mucosa	stomach
21	chr6:24716600-24722400	Active TSS	Right Ventricle	heart
22	chr6:24716800-24720000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:24716800-24720600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:24716800-24722400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:24716800-24722600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:24717000-24720000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:24717000-24721800	Active TSS	NH-A	brain
28	chr6:24717000-24722200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:24717000-24722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:24717000-24722400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr6:24717000-24722400	Active TSS	Brain Angular Gyrus	brain
32	chr6:24717000-24722600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:24717200-24719600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:24717200-24719800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:24717200-24719800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
36	chr6:24717200-24719800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
37	chr6:24717400-24719200	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
38	chr6:24717400-24719200	Flanking Active TSS	Liver	Liver
39	chr6:24717400-24719200	Transcr. at gene 5' and 3'	Fetal Lung	lung
40	chr6:24717400-24719400	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr6:24717400-24719600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:24717400-24719800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
43	chr6:24717400-24722200	Active TSS	Fetal Intestine Large	intestine
44	chr6:24717600-24719600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr6:24717600-24719800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
46	chr6:24717600-24722000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:24717600-24722200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr6:24717600-24722200	Active TSS	HSMMtube	muscle
49	chr6:24717800-24719200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:24717800-24719400	Active TSS	Skeletal Muscle Female	skeletal muscle

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