Variant report

Variant	esv3438279
Chromosome Location	chr7:120496341-120498889
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	chr7:120498425-120498442	K562	blood:	n/a	n/a
2	ATF2	chr7:120496627-120497370	GM12878	blood:	n/a	n/a
3	ATF2	chr7:120496654-120497330	GM12878	blood:	n/a	n/a
4	BACH1	chr7:120496830-120497354	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr7:120496733-120496969	GM12878	blood:	n/a	chr7:120496737-120496745
6	BATF	chr7:120497034-120497387	GM12878	blood:	n/a	n/a
7	BCL11A	chr7:120497061-120497377	GM12878	blood:	n/a	chr7:120497166-120497175 chr7:120497285-120497294
8	BCL11A	chr7:120497139-120497351	GM12878	blood:	n/a	chr7:120497166-120497175 chr7:120497285-120497294
9	BCL11A	chr7:120496742-120496944	GM12878	blood:	n/a	chr7:120496894-120496903
10	BCL3	chr7:120496715-120497049	GM12878	blood:	n/a	chr7:120496894-120496903
11	BCLAF1	chr7:120497569-120497981	GM12878	blood:	n/a	chr7:120497811-120497824
12	BCLAF1	chr7:120497029-120497393	GM12878	blood:	n/a	chr7:120497166-120497175 chr7:120497285-120497294
13	BCLAF1	chr7:120496983-120497386	GM12878	blood:	n/a	chr7:120497166-120497175 chr7:120497285-120497294
14	BHLHE40	chr7:120496410-120496459	K562	blood:	n/a	n/a
15	BHLHE40	chr7:120497071-120497284	K562	blood:	n/a	n/a
16	BHLHE40	chr7:120496841-120496858	K562	blood:	n/a	n/a
17	BHLHE40	chr7:120497675-120497927	K562	blood:	n/a	chr7:120497810-120497826 chr7:120497813-120497829
18	BHLHE40	chr7:120498179-120498396	K562	blood:	n/a	n/a
19	BHLHE40	chr7:120496265-120498341	GM12878	blood:	n/a	chr7:120497810-120497826 chr7:120497813-120497829 chr7:120498024-120498040 chr7:120498161-120498177 chr7:120498169-120498185
20	BRCA1	chr7:120497764-120497768	GM12878	blood:	n/a	n/a
21	BRCA1	chr7:120497835-120498612	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr7:120498141-120498387	H1-hESC	embryonic stem cell:	n/a	n/a
23	BRCA1	chr7:120498185-120498262	GM12878	blood:	n/a	n/a
24	BRCA1	chr7:120497715-120497789	HepG2	liver:	n/a	n/a
25	CBX3	chr7:120497001-120497445	K562	blood:	n/a	n/a
26	CBX3	chr7:120497608-120498433	K562	blood:	n/a	n/a
27	CCNT2	chr7:120497536-120498301	K562	blood:	n/a	n/a
28	CEBPB	chr7:120497722-120498639	Hela-S3	cervix:	n/a	chr7:120498487-120498500
29	CHD1	chr7:120497820-120498248	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr7:120498603-120498862	GM12878	blood:	n/a	n/a
31	CHD1	chr7:120495784-120498316	GM12878	blood:	n/a	chr7:120497739-120497749
32	CHD2	chr7:120497596-120498647	Hela-S3	cervix:	n/a	chr7:120497739-120497749
33	CHD2	chr7:120497611-120498461	GM12878	blood:	n/a	chr7:120497739-120497749
34	CHD2	chr7:120497713-120497870	K562	blood:	n/a	chr7:120497739-120497749
35	CHD2	chr7:120496547-120497393	GM12878	blood:	n/a	n/a
36	CHD2	chr7:120496941-120497283	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr7:120497900-120497933	HepG2	liver:	n/a	n/a
38	CHD2	chr7:120497772-120498190	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr7:120497130-120497330	K562	blood:	n/a	n/a
40	CHD2	chr7:120498073-120498197	K562	blood:	n/a	n/a
41	CREB1	chr7:120496919-120497440	H1-hESC	embryonic stem cell:	n/a	chr7:120497289-120497302
42	CREB1	chr7:120497167-120497423	A549	lung:	n/a	chr7:120497289-120497302
43	CREB1	chr7:120497038-120497399	HepG2	liver:	n/a	chr7:120497289-120497302
44	CREB1	chr7:120497681-120498062	A549	lung:	n/a	n/a
45	CREB1	chr7:120496782-120497506	H1-hESC	embryonic stem cell:	n/a	chr7:120497289-120497302
46	CTBP2	chr7:120497686-120498432	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr7:120498080-120498230	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr7:120497158-120497368	Fibrobl	skin:	n/a	n/a
49	CTCF	chr7:120497920-120498070	GM12878	blood:	n/a	n/a
50	CTCF	chr7:120496820-120496970	HCM	heart:	n/a	chr7:120496887-120496900 chr7:120496884-120496902

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:120498120-120498170	Caco-2	colon:	n/a
2	chr7:120498120-120498170	Caco-2	colon:	n/a
3	chr7:120497479-120497529	AG10803	skin:	n/a
4	chr7:120497479-120497529	NT2-D1	testis:	n/a
5	chr7:120498280-120498330	AG09319	gingival:	n/a
6	chr7:120498280-120498330	SK-N-MC	brain:	n/a
7	chr7:120497998-120498048	PrEC	prostate:	n/a
8	chr7:120498729-120498779	HCPEpiC	choroid plexus:	n/a
9	chr7:120496827-120496877	SKMC	muscle:	n/a
10	chr7:120497479-120497529	SKMC	muscle:	n/a
11	chr7:120498338-120498388	GM12878	blood:	n/a
12	chr7:120497559-120497609	Hepatocyte	liver:	n/a
13	chr7:120498729-120498779	MCF-7	breast:	n/a
14	chr7:120498369-120498419	U87	brain:	n/a
15	chr7:120498280-120498330	GM19239	blood:	n/a
16	chr7:120498280-120498330	MCF10A-Er-Src	breast:	n/a
17	chr7:120498338-120498388	MCF10A-Er-Src	breast:	n/a
18	chr7:120497998-120498048	PANC-1	pancreas:	n/a
19	chr7:120498280-120498330	NB4	blood:	n/a
20	chr7:120498120-120498170	LNCaP	prostate:	n/a
21	chr7:120498280-120498330	IMR90	lung:	fetal
22	chr7:120497559-120497609	HUVEC	blood vessel:	n/a
23	chr7:120496827-120496877	Jurkat	blood:	n/a
24	chr7:120497559-120497609	Hela-S3	cervix:	n/a
25	chr7:120498280-120498330	HCF	heart:	n/a
26	chr7:120497559-120497609	NB4	blood:	n/a
27	chr7:120496827-120496877	H1-hESC	embryonic stem cell:	embryo
28	chr7:120498120-120498170	HUVEC	blood vessel:	n/a
29	chr7:120498729-120498779	IMR90	lung:	fetal
30	chr7:120497559-120497609	HL-60	blood:	n/a
31	chr7:120498369-120498419	HPAEpiC	pulmonary alveolar:	n/a
32	chr7:120498729-120498779	CMK	blood:	n/a
33	chr7:120498120-120498170	PANC-1	pancreas:	n/a
34	chr7:120497559-120497609	SKMC	muscle:	n/a
35	chr7:120498280-120498330	HepG2	liver:	n/a
36	chr7:120498369-120498419	PFSK-1	brain:	n/a
37	chr7:120498120-120498170	NHBE	bronchial:	n/a
38	chr7:120497479-120497529	NHDF-neo	bronchial:	n/a
39	chr7:120498729-120498779	NHDF-neo	bronchial:	n/a
40	chr7:120497998-120498048	SK-N-SH_RA	brain:	n/a
41	chr7:120496827-120496877	GM06990	blood:	n/a
42	chr7:120498729-120498779	GM12891	blood:	n/a
43	chr7:120498729-120498779	ovcar-3	ovarian:	n/a
44	chr7:120498729-120498779	RPTEC	kidney:	n/a
45	chr7:120497559-120497609	HPAEpiC	pulmonary alveolar:	n/a
46	chr7:120497559-120497609	SK-N-SH_RA	brain:	n/a
47	chr7:120498338-120498388	RPTEC	kidney:	n/a
48	chr7:120497479-120497529	Hela-S3	cervix:	n/a
49	chr7:120498369-120498419	CMK	blood:	n/a
50	chr7:120498120-120498170	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:120495769..120499665-chr7:120588624..120592417,7	MCF-7	breast:
2	chr7:120494775..120497431-chr7:120590834..120592743,2	K562	blood:
3	chr10:30007821..30008397-chr7:120497640..120498310,2	Hela-S3	cervix:
4	chr7:120489201..120491293-chr7:120493630..120496553,2	MCF-7	breast:
5	chr16:3072484..3075327-chr7:120496877..120499119,2	MCF-7	breast:

Variant related genes	Relation type
TSPAN12	TF binding region
TSPAN12	CpG island
ENSG00000131652	chromatin interactions
ENSG00000071243	chromatin interactions
ENSG00000103145	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115305292	chr7:120496384-120496385	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs538069831	chr7:120496432-120496433	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554780322	chr7:120496433-120496434	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574830573	chr7:120496538-120496539	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs73427827	chr7:120496680-120496681	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559901250	chr7:120496688-120496689	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183360185	chr7:120496708-120496709	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs369754614	chr7:120496725-120496726	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs545602315	chr7:120496728-120496729	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112396286	chr7:120496730-120496731	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536576516	chr7:120496734-120496735	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375988226	chr7:120496760-120496761	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201225074	chr7:120496763-120496764	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373073148	chr7:120496770-120496771	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150994625	chr7:120496791-120496792	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201257686	chr7:120496813-120496814	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377745738	chr7:120496860-120496861	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116491151	chr7:120496971-120496972	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs527988352	chr7:120496979-120496980	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs541535179	chr7:120497119-120497120	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs116099926	chr7:120497122-120497123	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs570780394	chr7:120497189-120497190	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs539789682	chr7:120497191-120497192	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs374245596	chr7:120497196-120497197	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs549889056	chr7:120497270-120497271	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs188295866	chr7:120497273-120497274	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs368269466	chr7:120497274-120497275	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs535947612	chr7:120497332-120497333	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs554841942	chr7:120497333-120497334	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs568218861	chr7:120497334-120497335	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs533846323	chr7:120497414-120497415	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs3814460	chr7:120497450-120497451	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs3814459	chr7:120497451-120497452	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs545812380	chr7:120497567-120497568	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs573200954	chr7:120497631-120497632	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs143335671	chr7:120497640-120497641	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs6969399	chr7:120497642-120497643	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs541484346	chr7:120497681-120497682	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs561951533	chr7:120497693-120497694	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs527853623	chr7:120497706-120497707	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs541379054	chr7:120497930-120497931	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs564837297	chr7:120497934-120497935	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs533434260	chr7:120497959-120497960	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs185540852	chr7:120497962-120497963	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs570053771	chr7:120497973-120497974	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs545477642	chr7:120498049-120498050	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs561967326	chr7:120498053-120498054	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs529414382	chr7:120498065-120498066	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs549451459	chr7:120498080-120498081	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs568282206	chr7:120498095-120498096	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120474000-120496400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:120474600-120496600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:120482800-120496400	Weak transcription	Liver	Liver
4	chr7:120482800-120496400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:120482800-120496600	Weak transcription	Stomach Mucosa	stomach
6	chr7:120483400-120496400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:120483600-120496600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:120485200-120496600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:120485200-120496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:120485400-120496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:120485400-120496400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:120488200-120496600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:120488200-120496600	Weak transcription	Colonic Mucosa	Colon
14	chr7:120490600-120496400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:120490600-120496800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:120492800-120496400	Weak transcription	Fetal Lung	lung
17	chr7:120492800-120496600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:120492800-120496600	Weak transcription	Gastric	stomach
19	chr7:120493000-120496400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:120494400-120498200	Active TSS	GM12878-XiMat	blood
21	chr7:120494600-120496400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:120495200-120496400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:120495200-120496600	Active TSS	Right Atrium	heart
24	chr7:120495400-120496400	Weak transcription	HUVEC	blood vessel
25	chr7:120495400-120496600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:120495600-120496400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:120495800-120496600	Active TSS	Fetal Muscle Trunk	muscle
28	chr7:120495800-120498600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:120495800-120498600	Active TSS	Left Ventricle	heart
30	chr7:120496000-120497000	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr7:120496000-120499000	Active TSS	Fetal Kidney	kidney
32	chr7:120496200-120496400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:120496200-120496400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:120496200-120496400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:120496200-120496400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr7:120496200-120496400	Active TSS	Fetal Heart	heart
37	chr7:120496200-120496400	Flanking Active TSS	Fetal Intestine Small	intestine
38	chr7:120496200-120496400	Flanking Active TSS	Fetal Stomach	stomach
39	chr7:120496200-120496600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
40	chr7:120496200-120496600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:120496200-120496600	Active TSS	Duodenum Mucosa	Duodenum
42	chr7:120496200-120496600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:120496200-120496600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
44	chr7:120496200-120496600	Enhancers	Small Intestine	intestine
45	chr7:120496200-120496800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr7:120496200-120498800	Active TSS	Aorta	Aorta
47	chr7:120496200-120498800	Active TSS	Colon Smooth Muscle	Colon
48	chr7:120496200-120499000	Active TSS	Right Ventricle	heart
49	chr7:120496400-120496600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr7:120496400-120496600	Enhancers	H1 Cell Line	embryonic stem cell

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