Variant report

Variant	nsv981112
Chromosome Location	chr6:26251729-26252345
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:324)
CpG islands
(count:305)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:26251559-26251966	K562	blood:	n/a	n/a
2	ATF1	chr6:26251813-26251994	K562	blood:	n/a	n/a
3	ATF2	chr6:26251580-26253357	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr6:26251623-26252304	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr6:26251607-26252164	GM12878	blood:	n/a	n/a
6	ATF2	chr6:26251465-26252625	GM12878	blood:	n/a	n/a
7	BATF	chr6:26251743-26252147	GM12878	blood:	n/a	n/a
8	BCLAF1	chr6:26251715-26252564	K562	blood:	n/a	n/a
9	BCLAF1	chr6:26251569-26252648	GM12878	blood:	n/a	n/a
10	BCLAF1	chr6:26251668-26252675	GM12878	blood:	n/a	n/a
11	CBX3	chr6:26251466-26252008	K562	blood:	n/a	n/a
12	CBX3	chr6:26251619-26252169	K562	blood:	n/a	n/a
13	CCNT2	chr6:26251834-26251871	K562	blood:	n/a	n/a
14	CEBPB	chr6:26251670-26252062	K562	blood:	n/a	n/a
15	CEBPB	chr6:26251766-26252063	IMR90	lung:	n/a	n/a
16	CEBPB	chr6:26251584-26252503	GM12878	blood:	n/a	n/a
17	CEBPB	chr6:26251847-26251960	K562	blood:	n/a	n/a
18	CEBPB	chr6:26251712-26252081	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr6:26251762-26252233	GM12878	blood:	n/a	n/a
20	CEBPD	chr6:26251757-26252248	HepG2	liver:	n/a	n/a
21	CEBPD	chr6:26251656-26252135	K562	blood:	n/a	n/a
22	CHD1	chr6:26249587-26253934	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr6:26249456-26253189	IMR90	lung:	n/a	n/a
24	CHD1	chr6:26251380-26252680	GM12878	blood:	n/a	n/a
25	CHD2	chr6:26251644-26252072	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr6:26251563-26252232	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr6:26251568-26252067	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr6:26252190-26252225	MCF-7	breast:	n/a	n/a
29	CTCF	chr6:26251820-26251970	NHEK	skin:	n/a	n/a
30	CTCF	chr6:26251860-26252010	GM12870	blood:	n/a	n/a
31	CTCF	chr6:26252060-26252210	AG04449	skin:	n/a	n/a
32	CTCF	chr6:26251967-26252031	GM19239	blood:	n/a	n/a
33	CTCF	chr6:26251940-26252090	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr6:26251921-26251986	GM19238	blood:	n/a	n/a
35	CTCF	chr6:26251980-26252130	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr6:26252053-26252090	Pancreas_OC	pancreas:	n/a	n/a
37	CTCF	chr6:26251820-26251970	GM12871	blood:	n/a	n/a
38	E2F4	chr6:26250373-26251736	GM12878	blood:	n/a	chr6:26250931-26250938 chr6:26250931-26250938 chr6:26250931-26250938 chr6:26250931-26250942 chr6:26250926-26250941 chr6:26250930-26250941 chr6:26250930-26250939
39	E2F4	chr6:26250591-26252074	MCF10A-Er-Src	breast:	n/a	chr6:26250931-26250938 chr6:26250931-26250938 chr6:26250931-26250938 chr6:26250931-26250942 chr6:26250926-26250941 chr6:26250930-26250941 chr6:26250930-26250939
40	E2F6	chr6:26251741-26252008	K562	blood:	n/a	n/a
41	E2F6	chr6:26252022-26252246	K562	blood:	n/a	n/a
42	EBF1	chr6:26251694-26252114	GM12878	blood:	n/a	n/a
43	EBF1	chr6:26251526-26251848	GM12878	blood:	n/a	n/a
44	EBF1	chr6:26251433-26251998	GM12878	blood:	n/a	n/a
45	EGR1	chr6:26251795-26252152	GM12878	blood:	n/a	n/a
46	ELF1	chr6:26251804-26252418	GM12878	blood:	n/a	n/a
47	ELF1	chr6:26251212-26251879	MCF-7	breast:	n/a	n/a
48	ELF1	chr6:26251681-26252331	GM12878	blood:	n/a	n/a
49	ELK1	chr6:26251530-26252248	GM12878	blood:	n/a	n/a
50	EP300	chr6:26251752-26251911	K562	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:26251817-26251867	H1-hESC	embryonic stem cell:	embryo
2	chr6:26251817-26251867	CMK	blood:	n/a
3	chr6:26251817-26251867	GM12892	blood:	n/a
4	chr6:26252265-26252315	HIPEpiC	eye:	n/a
5	chr6:26252100-26252150	HL-60	blood:	n/a
6	chr6:26252265-26252315	HCM	heart:	n/a
7	chr6:26252265-26252315	HCF	heart:	n/a
8	chr6:26251817-26251867	SAEC	small airway:	n/a
9	chr6:26252265-26252315	BE2_C	brain:	n/a
10	chr6:26252141-26252191	HAEpiC	amniotic membrane:	n/a
11	chr6:26252100-26252150	HepG2	liver:	n/a
12	chr6:26251899-26251949	GM19239	blood:	n/a
13	chr6:26252141-26252191	GM12891	blood:	n/a
14	chr6:26251899-26251949	AG04449	skin:	fetal
15	chr6:26251899-26251949	GM12878	blood:	n/a
16	chr6:26252141-26252191	SK-N-SH_RA	brain:	n/a
17	chr6:26252265-26252315	NH-A	brain:	n/a
18	chr6:26252265-26252315	Caco-2	colon:	n/a
19	chr6:26252141-26252191	RPTEC	kidney:	n/a
20	chr6:26252141-26252191	NB4	blood:	n/a
21	chr6:26251899-26251949	H1-hESC	embryonic stem cell:	embryo
22	chr6:26251899-26251949	HRCEpiC	kidney:	n/a
23	chr6:26252141-26252191	MCF-7	breast:	n/a
24	chr6:26252265-26252315	SK-N-SH	brain:	n/a
25	chr6:26251899-26251949	HMEC	breast:	n/a
26	chr6:26251817-26251867	HCT-116	colon:	n/a
27	chr6:26252141-26252191	HL-60	blood:	n/a
28	chr6:26252141-26252191	HUVEC	blood vessel:	n/a
29	chr6:26252141-26252191	BJ	skin:	n/a
30	chr6:26252100-26252150	HRE	kidney:	n/a
31	chr6:26251817-26251867	MCF10A-Er-Src	breast:	n/a
32	chr6:26251899-26251949	HIPEpiC	eye:	n/a
33	chr6:26252141-26252191	SAEC	small airway:	n/a
34	chr6:26252100-26252150	AoSMC	blood vessel:	n/a
35	chr6:26252100-26252150	HRPEpiC	eye:	n/a
36	chr6:26252265-26252315	BJ	skin:	n/a
37	chr6:26251817-26251867	ECC-1	luminal epithelium:	n/a
38	chr6:26251817-26251867	IMR90	lung:	fetal
39	chr6:26251899-26251949	AG09309	skin:	n/a
40	chr6:26252100-26252150	GM12891	blood:	n/a
41	chr6:26251899-26251949	Hela-S3	cervix:	n/a
42	chr6:26251817-26251867	LNCaP	prostate:	n/a
43	chr6:26252265-26252315	AG04450	lung:	fetal
44	chr6:26251817-26251867	HRPEpiC	eye:	n/a
45	chr6:26251899-26251949	ECC-1	luminal epithelium:	n/a
46	chr6:26251899-26251949	PrEC	prostate:	n/a
47	chr6:26252141-26252191	Jurkat	blood:	n/a
48	chr6:26252100-26252150	NT2-D1	testis:	n/a
49	chr6:26252265-26252315	NB4	blood:	n/a
50	chr6:26252265-26252315	CMK	blood:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:20910633..20913132-chr6:26252065..26254036,2	MCF-7	breast:
2	chr17:59475732..59477627-chr6:26249790..26252547,2	MCF-7	breast:
3	chr6:26250350..26252961-chr6:27100694..27103484,2	K562	blood:
4	chr6:26251146..26253311-chr6:27798112..27799639,2	MCF-7	breast:
5	chr5:175962855..175964855-chr6:26250361..26252546,2	MCF-7	breast:
6	chr6:26032854..26035580-chr6:26251207..26253979,3	MCF-7	breast:
7	chr6:26248843..26252508-chr6:27859565..27863258,4	K562	blood:
8	chr6:26251055..26254665-chr6:27113819..27116327,4	MCF-7	breast:
9	chr6:26250131..26252759-chr9:103947028..103949743,2	MCF-7	breast:
10	chr1:149856764..149859696-chr6:26251811..26254710,2	MCF-7	breast:
11	chr20:55838553..55841371-chr6:26249456..26251854,2	MCF-7	breast:
12	chr6:26251387..26252142-chr7:100472118..100473007,2	Hela-S3	cervix:
13	chr17:57917544..57919779-chr6:26251722..26253377,3	MCF-7	breast:
14	chr6:26251588..26253194-chr6:27805528..27807609,2	MCF-7	breast:
15	chr6:26250835..26253676-chr6:27791814..27793929,3	MCF-7	breast:
16	chr6:26248241..26251766-chr6:27097726..27103043,5	MCF-7	breast:
17	chr6:26249129..26252003-chr6:27832611..27836378,6	MCF-7	breast:

No data

Variant related genes	Relation type
HIST1H2BH	TF binding region
HIST1H3F	TF binding region
HIST1H4G	TF binding region
HIST1H2BH	CpG island
HIST1H3F	CpG island
HIST1H4G	CpG island
ENSG00000267280	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000197153	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000102897	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000184357	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000146083	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000196678	chromatin interactions
ENSG00000196331	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000184348	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000198374	chromatin interactions
ENSG00000188215	chromatin interactions
ENSG00000087087	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000148123	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000197914	chromatin interactions
ENSG00000137259	chromatin interactions
ENSG00000233224	chromatin interactions
ENSG00000197238	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150670926	chr6:26251745-26251746	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
2	rs529558878	chr6:26251759-26251760	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
3	rs549238708	chr6:26251822-26251823	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
4	rs559975694	chr6:26251842-26251843	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
5	rs369223198	chr6:26251843-26251844	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
6	rs551741867	chr6:26251848-26251849	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
7	rs200764521	chr6:26251850-26251851	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
8	rs376236380	chr6:26251854-26251855	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
9	rs113926281	chr6:26251857-26251858	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
10	rs373375118	chr6:26251868-26251869	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
11	rs140891346	chr6:26251879-26251880	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
12	rs376490566	chr6:26251881-26251882	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
13	rs143443263	chr6:26251888-26251889	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
14	rs183571171	chr6:26251895-26251896	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
15	rs202060919	chr6:26251896-26251897	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
16	rs146273799	chr6:26251903-26251904	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
17	rs188255245	chr6:26251904-26251905	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
18	rs370727098	chr6:26251907-26251908	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
19	rs192377920	chr6:26251911-26251912	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
20	rs555400697	chr6:26251915-26251916	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
21	rs374320773	chr6:26251920-26251921	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
22	rs565957498	chr6:26251929-26251930	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs201520865	chr6:26251931-26251932	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs139273319	chr6:26251932-26251933	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
25	rs201219213	chr6:26251946-26251947	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
26	rs149934542	chr6:26251967-26251968	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
27	rs367883318	chr6:26251983-26251984	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs370577046	chr6:26251998-26251999	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs200294518	chr6:26252018-26252019	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs145237651	chr6:26252019-26252020	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs201310808	chr6:26252039-26252040	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs374188201	chr6:26252040-26252041	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs148751237	chr6:26252043-26252044	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs367662724	chr6:26252046-26252047	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs371880602	chr6:26252059-26252060	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs76321711	chr6:26252081-26252082	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
37	rs201562863	chr6:26252100-26252101	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
38	rs368637521	chr6:26252104-26252105	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
39	rs142270912	chr6:26252105-26252106	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
40	rs199520662	chr6:26252111-26252112	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
41	rs200645025	chr6:26252116-26252117	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
42	rs542798893	chr6:26252132-26252133	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
43	rs201572453	chr6:26252141-26252142	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
44	rs559834617	chr6:26252146-26252147	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs61746493	chr6:26252148-26252149	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs545075641	chr6:26252160-26252161	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs141553600	chr6:26252169-26252170	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs147107355	chr6:26252171-26252172	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
49	rs369362402	chr6:26252172-26252173	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
50	rs199577192	chr6:26252178-26252179	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Autism	20531469	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26249200-26251800	Active TSS	Brain Germinal Matrix	brain
2	chr6:26249200-26254000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:26249200-26254200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr6:26249200-26254600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:26249400-26252000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr6:26249400-26252400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
7	chr6:26249400-26252600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr6:26249400-26253000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr6:26249400-26253200	Active TSS	Fetal Lung	lung
10	chr6:26249400-26253400	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr6:26249400-26253400	Active TSS	K562	blood
12	chr6:26249400-26254000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:26249400-26254000	Active TSS	Fetal Kidney	kidney
14	chr6:26249400-26254200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr6:26249400-26254200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:26249400-26254200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:26249400-26254200	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:26249400-26254200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:26249400-26254200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:26249600-26252000	Active TSS	Placenta	Placenta
21	chr6:26249600-26252400	Active TSS	Fetal Heart	heart
22	chr6:26249600-26253400	Active TSS	Fetal Brain Female	brain
23	chr6:26249600-26253600	Active TSS	Duodenum Mucosa	Duodenum
24	chr6:26249600-26253800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:26249600-26253800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr6:26249600-26254000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr6:26249600-26254000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:26249600-26254000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr6:26249600-26254000	Active TSS	GM12878-XiMat	blood
30	chr6:26249600-26254200	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:26249600-26254200	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:26249600-26254200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:26249600-26254200	Active TSS	Fetal Stomach	stomach
34	chr6:26249600-26254200	Active TSS	NHLF	lung
35	chr6:26249600-26254800	Active TSS	Thymus	Thymus
36	chr6:26249600-26255400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:26249800-26252000	Active TSS	Fetal Muscle Leg	muscle
38	chr6:26249800-26252200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:26249800-26252400	Active TSS	Aorta	Aorta
40	chr6:26249800-26252400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr6:26249800-26252400	Active TSS	Placenta Amnion	Placenta Amnion
42	chr6:26249800-26252600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
43	chr6:26249800-26252600	Bivalent/Poised TSS	Brain Substantia Nigra	brain
44	chr6:26249800-26252800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:26249800-26253000	Active TSS	Primary B cells from peripheral blood	blood
46	chr6:26249800-26253000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr6:26249800-26253000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:26249800-26253200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr6:26249800-26253400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr6:26249800-26253800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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