Variant report

Variant	esv3423117
Chromosome Location	chr7:27211952-27214800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:146)
CpG islands
(count:855)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:146 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr7:27213264-27213449	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr7:27212027-27212412	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:27212613-27212786	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr7:27213949-27214271	Hela-S3	cervix:	n/a	chr7:27214201-27214211
5	CHD2	chr7:27212121-27213426	Hela-S3	cervix:	n/a	chr7:27212614-27212624
6	CTBP2	chr7:27212190-27214005	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr7:27213900-27214050	Caco-2	colon:	n/a	n/a
8	E2F1	chr7:27212984-27213492	Hela-S3	cervix:	n/a	chr7:27213444-27213452 chr7:27213162-27213173
9	E2F4	chr7:27213264-27213381	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr7:27212377-27212580	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F6	chr7:27212297-27212823	A549	lung:	n/a	n/a
12	EBF1	chr7:27213204-27213422	GM12878	blood:	n/a	n/a
13	EGR1	chr7:27213198-27213852	ECC-1	luminal epithelium:	n/a	n/a
14	EGR1	chr7:27212405-27212801	ECC-1	luminal epithelium:	n/a	chr7:27212609-27212622
15	EGR1	chr7:27213177-27213621	ECC-1	luminal epithelium:	n/a	n/a
16	ELF1	chr7:27212825-27213630	MCF-7	breast:	n/a	n/a
17	ELF1	chr7:27213149-27213448	A549	lung:	n/a	n/a
18	ELF1	chr7:27212975-27213678	MCF-7	breast:	n/a	n/a
19	ELF1	chr7:27213023-27213496	GM12878	blood:	n/a	n/a
20	ELK1	chr7:27212731-27213446	Hela-S3	cervix:	n/a	n/a
21	EP300	chr7:27212963-27213790	ECC-1	luminal epithelium:	n/a	n/a
22	FOXA1	chr7:27214773-27215115	T-47D	breast:	n/a	n/a
23	FOXA1	chr7:27214785-27215172	T-47D	breast:	n/a	n/a
24	GABPA	chr7:27213108-27213447	H1-hESC	embryonic stem cell:	n/a	n/a
25	GTF2F1	chr7:27211585-27212944	Hela-S3	cervix:	n/a	n/a
26	HA-E2F1	chr7:27212413-27214243	Hela-S3	cervix:	n/a	chr7:27213162-27213173
27	HCFC1	chr7:27212082-27214209	Hela-S3	cervix:	n/a	n/a
28	MAFK	chr7:27212475-27212687	Hela-S3	cervix:	n/a	n/a
29	MAFK	chr7:27213915-27213917	Hela-S3	cervix:	n/a	n/a
30	MAX	chr7:27212375-27213604	ECC-1	luminal epithelium:	n/a	chr7:27212624-27212633
31	MAX	chr7:27212448-27213507	Hela-S3	cervix:	n/a	chr7:27212624-27212633
32	MAX	chr7:27212426-27213763	ECC-1	luminal epithelium:	n/a	chr7:27212624-27212633
33	MAX	chr7:27212275-27213647	A549	lung:	n/a	chr7:27212624-27212633
34	MAX	chr7:27211958-27214095	NB4	blood:	n/a	chr7:27212624-27212633
35	MAX	chr7:27212388-27213543	A549	lung:	n/a	chr7:27212624-27212633
36	MAX	chr7:27212418-27213692	MCF-7	breast:	n/a	chr7:27212624-27212633
37	MAZ	chr7:27212415-27213510	Hela-S3	cervix:	n/a	chr7:27212624-27212633
38	MXI1	chr7:27212548-27213383	Hela-S3	cervix:	n/a	n/a
39	MYC	chr7:27213731-27213792	MCF-7	breast:	n/a	n/a
40	MYC	chr7:27212766-27213611	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr7:27212914-27213709	MCF-7	breast:	n/a	n/a
42	MYC	chr7:27212115-27212268	MCF10A-Er-Src	breast:	n/a	n/a
43	MYC	chr7:27212014-27214133	NB4	blood:	n/a	chr7:27212624-27212633
44	NFIC	chr7:27212445-27213627	ECC-1	luminal epithelium:	n/a	n/a
45	NFYB	chr7:27213878-27214070	Hela-S3	cervix:	n/a	n/a
46	NR2F2	chr7:27212487-27213522	MCF-7	breast:	n/a	n/a
47	PAX5	chr7:27213396-27213607	GM12892	blood:	n/a	n/a
48	POLR2A	chr7:27213148-27213390	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:27213619-27213741	ProgFib	skin:	n/a	n/a
50	POLR2A	chr7:27212066-27212235	Hela-S3	cervix:	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	chr7:27214043-27214093	AoSMC	blood vessel:	n/a
2	chr7:27214043-27214093	AoSMC	blood vessel:	n/a
3	chr7:27214126-27214176	ProgFib	skin:	n/a
4	chr7:27214043-27214093	Caco-2	colon:	n/a
5	chr7:27213893-27213943	LNCaP	prostate:	n/a
6	chr7:27214126-27214176	HL-60	blood:	n/a
7	chr7:27213610-27213660	GM12878	blood:	n/a
8	chr7:27214126-27214176	NT2-D1	testis:	n/a
9	chr7:27212357-27212407	HPAEpiC	pulmonary alveolar:	n/a
10	chr7:27214126-27214176	HCF	heart:	n/a
11	chr7:27213984-27214034	H1-hESC	embryonic stem cell:	embryo
12	chr7:27213950-27214000	GM12891	blood:	n/a
13	chr7:27213984-27214034	SK-N-MC	brain:	n/a
14	chr7:27212870-27212920	MCF10A-Er-Src	breast:	n/a
15	chr7:27212357-27212407	SAEC	small airway:	n/a
16	chr7:27213893-27213943	AG10803	skin:	n/a
17	chr7:27213966-27214016	BE2_C	brain:	n/a
18	chr7:27213966-27214016	GM12892	blood:	n/a
19	chr7:27213950-27214000	Hepatocyte	liver:	n/a
20	chr7:27214043-27214093	SK-N-MC	brain:	n/a
21	chr7:27214043-27214093	CMK	blood:	n/a
22	chr7:27214043-27214093	PFSK-1	brain:	n/a
23	chr7:27212935-27212985	HL-60	blood:	n/a
24	chr7:27212357-27212407	AG04450	lung:	fetal
25	chr7:27214043-27214093	HEK293	kidney:	embryo
26	chr7:27214126-27214176	CMK	blood:	n/a
27	chr7:27214043-27214093	HRCEpiC	kidney:	n/a
28	chr7:27212935-27212985	HMEC	breast:	n/a
29	chr7:27214126-27214176	HCPEpiC	choroid plexus:	n/a
30	chr7:27213966-27214016	MCF-7	breast:	n/a
31	chr7:27214126-27214176	HCT-116	colon:	n/a
32	chr7:27214126-27214176	A549	lung:	n/a
33	chr7:27214043-27214093	MCF-7	breast:	n/a
34	chr7:27213966-27214016	U87	brain:	n/a
35	chr7:27213984-27214034	HAEpiC	amniotic membrane:	n/a
36	chr7:27214201-27214251	HRCEpiC	kidney:	n/a
37	chr7:27213610-27213660	HAEpiC	amniotic membrane:	n/a
38	chr7:27212870-27212920	ovcar-3	ovarian:	n/a
39	chr7:27212357-27212407	GM19239	blood:	n/a
40	chr7:27214201-27214251	AG09309	skin:	n/a
41	chr7:27212357-27212407	HEEpiC	esophagus:	n/a
42	chr7:27212935-27212985	HCM	heart:	n/a
43	chr7:27214126-27214176	Jurkat	blood:	n/a
44	chr7:27214043-27214093	HCT-116	colon:	n/a
45	chr7:27214201-27214251	HMEC	breast:	n/a
46	chr7:27212357-27212407	GM12891	blood:	n/a
47	chr7:27214056-27214106	IMR90	lung:	fetal
48	chr7:27213950-27214000	T-47D	breast:	n/a
49	chr7:27214383-27214433	IMR90	lung:	fetal
50	chr7:27213610-27213660	LNCaP	prostate:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:36260122..36261007-chr7:27211627..27212520,2	Hela-S3	cervix:
2	chr7:27211408..27213705-chr7:27214550..27217116,2	MCF-7	breast:
3	chr19:39900112..39901039-chr7:27212706..27213291,2	Hela-S3	cervix:
4	chr21:38738364..38739031-chr7:27212839..27213415,2	Hela-S3	cervix:
5	chr14:77278470..77279432-chr7:27214106..27214614,2	Hela-S3	cervix:
6	chr7:27212193..27213069-chr7:27224455..27225318,2	Hela-S3	cervix:
7	chr1:28974951..28975568-chr7:27213884..27214792,2	Hela-S3	cervix:
8	chr5:41924992..41925898-chr7:27214490..27215147,2	Hela-S3	cervix:
9	chr11:60674246..60674946-chr7:27212653..27213242,2	NB4	blood:
10	chr7:27213270..27217080-chr7:27217116..27219781,5	MCF-7	breast:
11	chr7:27202891..27205946-chr7:27211956..27215443,3	MCF-7	breast:
12	chr7:27211408..27213705-chr7:27214550..27217116,2	MCF-7	breast:
13	chr11:62608622..62609503-chr7:27214109..27214909,3	Hela-S3	cervix:
14	chr1:1167343..1167894-chr7:27212710..27213260,2	NB4	blood:
15	chr7:27203892..27207242-chr7:27209723..27213341,3	MCF-7	breast:

No data

Variant related genes	Relation type
HOXA10	TF binding region
ENSG00000257184	TF binding region
MIR196B	TF binding region
HOXA9	TF binding region
HOXA10	CpG island
ENSG00000257184	CpG island
MIR196B	CpG island
HOXA9	CpG island
ENSG00000266559	chromatin interactions
ENSG00000257184	chromatin interactions
ENSG00000151876	chromatin interactions
ENSG00000253293	chromatin interactions
ENSG00000257052	chromatin interactions
ENSG00000159216	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000240990	chromatin interactions
ENSG00000005073	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000176022	chromatin interactions
ENSG00000078808	chromatin interactions
ENSG00000013523	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181948244	chr7:27212033-27212034	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs184490812	chr7:27212038-27212039	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs117510908	chr7:27212064-27212065	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs548196830	chr7:27212084-27212085	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs551768548	chr7:27212088-27212089	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs571538252	chr7:27212099-27212100	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs527611257	chr7:27212231-27212232	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs547289121	chr7:27212239-27212240	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs567165241	chr7:27212243-27212244	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs536040270	chr7:27212285-27212286	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs549534538	chr7:27212364-27212365	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs376075178	chr7:27212397-27212398	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs569745227	chr7:27212413-27212414	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs577538714	chr7:27212482-27212483	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs369379398	chr7:27212515-27212516	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs538337325	chr7:27212528-27212529	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs558551179	chr7:27212561-27212562	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs571942465	chr7:27212574-27212575	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs189064804	chr7:27212584-27212585	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs554516126	chr7:27212585-27212586	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs574337997	chr7:27212592-27212593	Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs543265623	chr7:27212624-27212625	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs562905532	chr7:27212655-27212656	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs576517847	chr7:27212659-27212660	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs545153423	chr7:27212677-27212678	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs372422461	chr7:27212727-27212728	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs565329806	chr7:27212730-27212731	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs527670924	chr7:27212736-27212737	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs547338308	chr7:27212738-27212739	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs560868065	chr7:27212774-27212775	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs529901362	chr7:27212783-27212784	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs17154780	chr7:27212810-27212811	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs373417573	chr7:27212813-27212814	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs569729602	chr7:27212843-27212844	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs376647030	chr7:27212860-27212861	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs112240823	chr7:27212892-27212893	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs370295072	chr7:27212906-27212907	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs551975236	chr7:27212917-27212918	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs368427238	chr7:27212924-27212925	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs201267253	chr7:27212930-27212931	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs371230332	chr7:27212953-27212954	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs112203709	chr7:27212959-27212960	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs534606557	chr7:27212981-27212982	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs143765484	chr7:27212985-27212986	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs574401870	chr7:27212988-27212989	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs536930308	chr7:27213000-27213001	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs181332291	chr7:27213013-27213014	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs369532921	chr7:27213032-27213033	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs3735531	chr7:27213096-27213097	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs576560374	chr7:27213101-27213102	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27202800-27214400	Active TSS	Psoas Muscle	Psoas
2	chr7:27204400-27213000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr7:27206800-27212000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:27208000-27214400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:27209200-27219800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:27209400-27212600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:27210000-27212600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:27210200-27212000	Weak transcription	A549	lung
9	chr7:27210200-27212600	Bivalent Enhancer	Fetal Thymus	thymus
10	chr7:27210400-27212200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:27210400-27212800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:27210600-27212000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:27210600-27212200	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
14	chr7:27210600-27212600	Flanking Active TSS	NHEK	skin
15	chr7:27210600-27212800	Flanking Active TSS	HUVEC	blood vessel
16	chr7:27210800-27212000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:27210800-27212200	Flanking Active TSS	Hela-S3	cervix
18	chr7:27210800-27212400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr7:27210800-27213000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr7:27210800-27213000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr7:27210800-27213400	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr7:27211000-27212000	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
23	chr7:27211000-27212400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr7:27211000-27212400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr7:27211000-27212400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:27211000-27212400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:27211000-27212400	Flanking Active TSS	HSMMtube	muscle
28	chr7:27211000-27212600	Bivalent/Poised TSS	Small Intestine	intestine
29	chr7:27211000-27213000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:27211000-27213000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr7:27211000-27213200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
32	chr7:27211000-27213400	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr7:27211000-27217600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:27211200-27212000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:27211200-27212000	Bivalent/Poised TSS	Fetal Kidney	kidney
36	chr7:27211200-27212200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:27211200-27212400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
38	chr7:27211200-27212400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:27211200-27212600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr7:27211200-27212800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
41	chr7:27211200-27213000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
42	chr7:27211200-27214200	Active TSS	HSMM	muscle
43	chr7:27211400-27212400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
44	chr7:27211400-27212600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr7:27211400-27212600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:27211400-27212600	Bivalent Enhancer	Right Ventricle	heart
47	chr7:27211400-27212800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr7:27211400-27212800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
49	chr7:27211400-27212800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr7:27211400-27212800	Bivalent Enhancer	Lung	lung

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