Variant report

Variant	esv3358442
Chromosome Location	chr7:108095941-108098489
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	BACH1	chr7:108095713-108097175	H1-hESC	embryonic stem cell:	n/a	n/a
2	CCNT2	chr7:108096509-108096699	K562	blood:	n/a	n/a
3	CEBPB	chr7:108098018-108098249	A549	lung:	n/a	chr7:108098183-108098194
4	CEBPB	chr7:108098114-108098233	K562	blood:	n/a	chr7:108098183-108098194
5	CHD1	chr7:108096585-108096712	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr7:108096632-108097175	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD2	chr7:108096635-108096732	HepG2	liver:	n/a	n/a
8	CREB1	chr7:108096435-108097279	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr7:108095186-108097260	A549	lung:	n/a	n/a
10	CTBP2	chr7:108095242-108097181	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr7:108096647-108096684	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr7:108096580-108096730	HCFaa	heart:	n/a	n/a
13	CTCF	chr7:108096599-108096692	GM10248	blood:	n/a	n/a
14	CTCF	chr7:108096020-108096170	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr7:108096540-108096690	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr7:108096520-108096670	GM12870	blood:	n/a	n/a
17	CTCF	chr7:108096620-108096790	GM12878	blood:	n/a	n/a
18	CTCF	chr7:108096460-108096610	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr7:108096600-108096750	GM12875	blood:	n/a	n/a
20	CTCF	chr7:108096520-108096670	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:108096584-108096757	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:108096613-108096628	GM12891	blood:	n/a	n/a
23	CTCF	chr7:108096080-108096230	NHEK	skin:	n/a	n/a
24	CTCF	chr7:108096660-108096810	HMEC	breast:	n/a	n/a
25	CTCF	chr7:108096560-108096710	GM12873	blood:	n/a	n/a
26	CTCF	chr7:108096588-108096727	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:108096560-108096710	GM12875	blood:	n/a	n/a
28	CTCF	chr7:108096660-108096810	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr7:108096608-108096706	MCF-7	breast:	n/a	n/a
30	E2F4	chr7:108096737-108096829	MCF10A-Er-Src	breast:	n/a	chr7:108096814-108096823
31	E2F6	chr7:108096544-108096987	A549	lung:	n/a	chr7:108096814-108096823
32	E2F6	chr7:108096417-108097368	A549	lung:	n/a	chr7:108097075-108097085 chr7:108097189-108097201 chr7:108097162-108097171 chr7:108096814-108096823
33	E2F6	chr7:108097059-108097181	K562	blood:	n/a	chr7:108097075-108097085 chr7:108097162-108097171
34	EGR1	chr7:108096853-108097235	ECC-1	luminal epithelium:	n/a	chr7:108097162-108097172 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108097169-108097182
35	EGR1	chr7:108096689-108097251	MCF-7	breast:	n/a	chr7:108097162-108097172 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108096816-108096825 chr7:108096696-108096706 chr7:108097169-108097182
36	EGR1	chr7:108096761-108097139	H1-hESC	embryonic stem cell:	n/a	chr7:108096980-108096994 chr7:108096816-108096825
37	EGR1	chr7:108095993-108097283	MCF-7	breast:	n/a	chr7:108097162-108097172 chr7:108095996-108096009 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108096816-108096825 chr7:108096696-108096706 chr7:108097169-108097182
38	EGR1	chr7:108096859-108097073	GM12878	blood:	n/a	chr7:108096980-108096994
39	EGR1	chr7:108096832-108097159	K562	blood:	n/a	chr7:108096980-108096994
40	EGR1	chr7:108096797-108097151	H1-hESC	embryonic stem cell:	n/a	chr7:108096980-108096994 chr7:108096816-108096825
41	EGR1	chr7:108096799-108097155	K562	blood:	n/a	chr7:108096980-108096994 chr7:108096816-108096825
42	EGR1	chr7:108096700-108097224	ECC-1	luminal epithelium:	n/a	chr7:108097162-108097172 chr7:108096980-108096994 chr7:108097163-108097176 chr7:108097166-108097175 chr7:108096816-108096825 chr7:108097169-108097182
43	ELF1	chr7:108096204-108096821	GM12878	blood:	n/a	chr7:108096696-108096708
44	ELF1	chr7:108095080-108097286	MCF-7	breast:	n/a	chr7:108096696-108096708 chr7:108095553-108095565
45	EP300	chr7:108096656-108097135	SK-N-SH_RA	brain:	n/a	chr7:108096814-108096823
46	EP300	chr7:108096679-108097156	A549	lung:	n/a	chr7:108096814-108096823
47	EP300	chr7:108096778-108097167	SK-N-SH_RA	brain:	n/a	chr7:108096814-108096823
48	EP300	chr7:108096766-108097147	H1-hESC	embryonic stem cell:	n/a	chr7:108096814-108096823
49	ESR1	chr7:108096047-108096437	ECC-1	luminal epithelium:	n/a	n/a
50	ESR1	chr7:108096069-108096392	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:108097436-108097486	HMEC	breast:	n/a
2	chr7:108096745-108096795	ECC-1	luminal epithelium:	n/a
3	chr7:108096745-108096795	HEK293	kidney:	embryo
4	chr7:108097436-108097486	Jurkat	blood:	n/a
5	chr7:108096417-108096467	ProgFib	skin:	n/a
6	chr7:108096417-108096467	HL-60	blood:	n/a
7	chr7:108097436-108097486	NT2-D1	testis:	n/a
8	chr7:108096417-108096467	IMR90	lung:	fetal
9	chr7:108097436-108097486	HNPCEpiC	eye:	n/a
10	chr7:108096745-108096795	GM19239	blood:	n/a
11	chr7:108095959-108096009	HNPCEpiC	eye:	n/a
12	chr7:108097436-108097486	RPTEC	kidney:	n/a
13	chr7:108095959-108096009	AG10803	skin:	n/a
14	chr7:108096745-108096795	U87	brain:	n/a
15	chr7:108097205-108097255	LNCaP	prostate:	n/a
16	chr7:108097205-108097255	SAEC	small airway:	n/a
17	chr7:108097187-108097237	HAEpiC	amniotic membrane:	n/a
18	chr7:108096041-108096091	GM19239	blood:	n/a
19	chr7:108097606-108097656	GM12892	blood:	n/a
20	chr7:108095912-108095962	NB4	blood:	n/a
21	chr7:108097477-108097527	HCPEpiC	choroid plexus:	n/a
22	chr7:108097477-108097527	HPAEpiC	pulmonary alveolar:	n/a
23	chr7:108097436-108097486	HAEpiC	amniotic membrane:	n/a
24	chr7:108097187-108097237	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:108096745-108096795	Caco-2	colon:	n/a
26	chr7:108097436-108097486	HCM	heart:	n/a
27	chr7:108095912-108095962	SK-N-MC	brain:	n/a
28	chr7:108097187-108097237	CMK	blood:	n/a
29	chr7:108097477-108097527	PFSK-1	brain:	n/a
30	chr7:108095912-108095962	H1-hESC	embryonic stem cell:	embryo
31	chr7:108095912-108095962	BJ	skin:	n/a
32	chr7:108097606-108097656	RPTEC	kidney:	n/a
33	chr7:108096745-108096795	HCM	heart:	n/a
34	chr7:108097606-108097656	GM12891	blood:	n/a
35	chr7:108096041-108096091	AoSMC	blood vessel:	n/a
36	chr7:108095912-108095962	PANC-1	pancreas:	n/a
37	chr7:108096041-108096091	HMEC	breast:	n/a
38	chr7:108096041-108096091	HCM	heart:	n/a
39	chr7:108097436-108097486	MCF-7	breast:	n/a
40	chr7:108095959-108096009	HEK293	kidney:	embryo
41	chr7:108097187-108097237	AG04450	lung:	fetal
42	chr7:108095912-108095962	NT2-D1	testis:	n/a
43	chr7:108097187-108097237	HepG2	liver:	n/a
44	chr7:108095959-108096009	T-47D	breast:	n/a
45	chr7:108097477-108097527	U87	brain:	n/a
46	chr7:108095912-108095962	HepG2	liver:	n/a
47	chr7:108095959-108096009	RPTEC	kidney:	n/a
48	chr7:108097205-108097255	BE2_C	brain:	n/a
49	chr7:108097477-108097527	HIPEpiC	eye:	n/a
50	chr7:108096745-108096795	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107823921..107826218-chr7:108097722..108100120,2	MCF-7	breast:
2	chr7:108095582..108097658-chr7:108210312..108212186,2	MCF-7	breast:
3	chr7:107998008..108001072-chr7:108096682..108098603,3	MCF-7	breast:
4	chr20:45986504..45989171-chr7:108094917..108096710,2	MCF-7	breast:
5	chr7:108094254..108096481-chr7:108100316..108102970,2	K562	blood:
6	chr7:107996666..108000210-chr7:108094187..108098858,6	MCF-7	breast:
7	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:
8	chr2:172808708..172810698-chr7:108094975..108096588,2	MCF-7	breast:
9	chr1:149857130..149858704-chr7:108095136..108097059,2	MCF-7	breast:
10	chr7:108056974..108058876-chr7:108094408..108096175,2	MCF-7	breast:
11	chr7:108094702..108096715-chr7:108133980..108136057,2	MCF-7	breast:
12	chr7:108094270..108096861-chr7:108164817..108167585,2	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
NRCAM	CpG island
ENSG00000128590	chromatin interactions
ENSG00000266112	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000091129	chromatin interactions
ENSG00000135241	chromatin interactions
ENSG00000184260	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532061963	chr7:108096066-108096067	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs1859769	chr7:108096080-108096081	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571280805	chr7:108096107-108096108	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs527237004	chr7:108096140-108096141	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs145111456	chr7:108096166-108096167	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs376885263	chr7:108096174-108096175	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs192708403	chr7:108096204-108096205	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs559240624	chr7:108096206-108096207	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs569723515	chr7:108096262-108096263	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs146821818	chr7:108096280-108096281	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs9649308	chr7:108096291-108096292	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs1859770	chr7:108096395-108096396	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568398771	chr7:108096405-108096406	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs577618249	chr7:108096460-108096461	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs540278386	chr7:108096476-108096477	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs552627019	chr7:108096479-108096480	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs537979345	chr7:108096488-108096489	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs574113203	chr7:108096552-108096553	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs184329462	chr7:108096553-108096554	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs563122494	chr7:108096585-108096586	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs531779362	chr7:108096651-108096652	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs146482136	chr7:108096739-108096740	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs545727902	chr7:108096796-108096797	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs565622345	chr7:108096808-108096809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs527979814	chr7:108096842-108096843	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs547447592	chr7:108096864-108096865	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs13221554	chr7:108096869-108096870	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs567127969	chr7:108096928-108096929	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs529817207	chr7:108096957-108096958	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs549577659	chr7:108096965-108096966	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs569841078	chr7:108097044-108097045	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs529755090	chr7:108097060-108097061	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs1159610	chr7:108097129-108097130	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs551951444	chr7:108097159-108097160	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs76585824	chr7:108097224-108097225	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs78758979	chr7:108097225-108097226	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs76655474	chr7:108097226-108097227	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs79162675	chr7:108097227-108097228	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs372406015	chr7:108097235-108097236	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs534589772	chr7:108097304-108097305	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs564816203	chr7:108097334-108097335	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs573926518	chr7:108097338-108097339	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs189022820	chr7:108097396-108097397	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs550160485	chr7:108097431-108097432	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs3763463	chr7:108097491-108097492	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs368490648	chr7:108097576-108097577	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs397890316	chr7:108097579-108097580	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs61068185	chr7:108097590-108097591	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs576476775	chr7:108097671-108097672	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs116400542	chr7:108097672-108097673	Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Myxofibrosarcoma	20639860	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108094600-108097800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:108094800-108096000	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:108094800-108096200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:108094800-108096800	Active TSS	Brain Angular Gyrus	brain
5	chr7:108094800-108096800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
6	chr7:108094800-108097800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:108095000-108096200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:108095000-108096400	Bivalent/Poised TSS	Thymus	Thymus
9	chr7:108095000-108096600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
10	chr7:108095000-108096600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
11	chr7:108095000-108096800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr7:108095000-108096800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr7:108095000-108096800	Bivalent/Poised TSS	NHDF-Ad	bronchial
14	chr7:108095000-108097000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:108095000-108097000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:108095000-108097200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:108095000-108097200	Active TSS	HSMM	muscle
18	chr7:108095000-108097400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:108095000-108097400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:108095000-108097400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:108095000-108097400	Active TSS	A549	lung
22	chr7:108095000-108097600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:108095000-108097600	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:108095000-108097800	Active TSS	Fetal Brain Female	brain
25	chr7:108095000-108098000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr7:108095200-108096000	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr7:108095200-108096000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:108095200-108096200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:108095200-108096200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:108095200-108096200	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr7:108095200-108096200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
32	chr7:108095200-108096400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr7:108095200-108096600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:108095200-108096800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:108095200-108096800	Flanking Active TSS	Liver	Liver
36	chr7:108095200-108096800	Active TSS	Brain Substantia Nigra	brain
37	chr7:108095200-108096800	Active TSS	Fetal Brain Male	brain
38	chr7:108095200-108096800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr7:108095200-108097000	Active TSS	HSMMtube	muscle
40	chr7:108095200-108097000	Bivalent/Poised TSS	NHLF	lung
41	chr7:108095200-108097200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:108095200-108097200	Active TSS	Aorta	Aorta
43	chr7:108095200-108097200	Active TSS	Fetal Kidney	kidney
44	chr7:108095200-108097200	Active TSS	HUVEC	blood vessel
45	chr7:108095200-108097200	Bivalent/Poised TSS	Osteobl	bone
46	chr7:108095200-108097400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr7:108095200-108097600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:108095200-108097600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr7:108095200-108097600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr7:108095200-108097600	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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