Variant report

Variant	esv3339760
Chromosome Location	chr7:150673844-150676392
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	chr7:150675939-150675957	K562	blood:	n/a	n/a
2	BACH1	chr7:150674432-150674691	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr7:150675990-150676483	K562	blood:	n/a	chr7:150676280-150676296
4	BHLHE40	chr7:150675764-150675783	K562	blood:	n/a	n/a
5	BHLHE40	chr7:150673865-150674614	K562	blood:	n/a	n/a
6	CBX3	chr7:150673567-150674800	K562	blood:	n/a	n/a
7	CBX3	chr7:150675464-150676565	K562	blood:	n/a	n/a
8	CCNT2	chr7:150676073-150676541	K562	blood:	n/a	chr7:150676330-150676339
9	CCNT2	chr7:150674541-150674744	K562	blood:	n/a	chr7:150674715-150674724
10	CCNT2	chr7:150674965-150675820	K562	blood:	n/a	chr7:150675703-150675712
11	CEBPB	chr7:150676284-150676464	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPD	chr7:150675762-150676300	K562	blood:	n/a	n/a
13	CHD2	chr7:150673915-150674483	K562	blood:	n/a	n/a
14	CHD2	chr7:150676082-150676396	K562	blood:	n/a	chr7:150676330-150676340
15	CHD2	chr7:150675560-150675802	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD2	chr7:150676108-150676368	GM12878	blood:	n/a	chr7:150676330-150676340
17	CHD2	chr7:150675620-150675770	GM12878	blood:	n/a	n/a
18	CHD2	chr7:150675514-150675810	K562	blood:	n/a	n/a
19	CHD2	chr7:150676008-150676490	H1-hESC	embryonic stem cell:	n/a	chr7:150676330-150676340
20	CTBP2	chr7:150676132-150676768	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:150676040-150676190	BE2_C	brain:	n/a	n/a
22	CTCF	chr7:150676077-150676249	GM12878	blood:	n/a	n/a
23	CTCF	chr7:150675940-150676359	K562	blood:	n/a	n/a
24	CTCF	chr7:150676099-150676169	K562	blood:	n/a	n/a
25	CTCF	chr7:150676017-150676267	K562	blood:	n/a	n/a
26	CTCF	chr7:150675520-150675670	Caco-2	colon:	n/a	n/a
27	CTCF	chr7:150675939-150676437	K562	blood:	n/a	n/a
28	CTCF	chr7:150676080-150676230	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr7:150676020-150676170	HPF	lung:	n/a	n/a
30	CTCF	chr7:150676060-150676210	HEK293	kidney:	n/a	n/a
31	CTCF	chr7:150676060-150676210	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr7:150676060-150676210	HepG2	liver:	n/a	n/a
33	CTCF	chr7:150676060-150676210	HRE	kidney:	n/a	n/a
34	E2F6	chr7:150676064-150676387	K562	blood:	n/a	chr7:150676279-150676289 chr7:150676236-150676246
35	E2F6	chr7:150675494-150676067	H1-hESC	embryonic stem cell:	n/a	n/a
36	E2F6	chr7:150675052-150675634	K562	blood:	n/a	chr7:150675224-150675234 chr7:150675223-150675232
37	E2F6	chr7:150673863-150674109	K562	blood:	n/a	n/a
38	E2F6	chr7:150674557-150674884	K562	blood:	n/a	chr7:150674700-150674709 chr7:150674701-150674708 chr7:150674701-150674708 chr7:150674701-150674708 chr7:150674700-150674712
39	E2F6	chr7:150675690-150675903	K562	blood:	n/a	n/a
40	EBF1	chr7:150675613-150675627	GM12878	blood:	n/a	n/a
41	EBF1	chr7:150676039-150676204	GM12878	blood:	n/a	n/a
42	EGR1	chr7:150673657-150674065	K562	blood:	n/a	chr7:150673920-150673933 chr7:150673876-150673889
43	EGR1	chr7:150673688-150674128	K562	blood:	n/a	chr7:150673920-150673933 chr7:150673876-150673889
44	EGR1	chr7:150675537-150675832	K562	blood:	n/a	chr7:150675698-150675711
45	EGR1	chr7:150676344-150676717	H1-hESC	embryonic stem cell:	n/a	chr7:150676542-150676553 chr7:150676541-150676554 chr7:150676542-150676556 chr7:150676543-150676553 chr7:150676540-150676555 chr7:150676549-150676559 chr7:150676541-150676555 chr7:150676541-150676554 chr7:150676541-150676554 chr7:150676421-150676431
46	EGR1	chr7:150676303-150677062	K562	blood:	n/a	chr7:150676542-150676553 chr7:150676541-150676554 chr7:150676337-150676347 chr7:150676542-150676556 chr7:150676543-150676553 chr7:150676540-150676555 chr7:150676549-150676559 chr7:150676541-150676555 chr7:150676541-150676554 chr7:150676541-150676554 chr7:150676421-150676431
47	EGR1	chr7:150676136-150676729	K562	blood:	n/a	chr7:150676542-150676553 chr7:150676541-150676554 chr7:150676337-150676347 chr7:150676542-150676556 chr7:150676216-150676226 chr7:150676543-150676553 chr7:150676540-150676555 chr7:150676549-150676559 chr7:150676541-150676555 chr7:150676541-150676554 chr7:150676541-150676554 chr7:150676421-150676431
48	EGR1	chr7:150676284-150676777	MCF-7	breast:	n/a	chr7:150676542-150676553 chr7:150676541-150676554 chr7:150676337-150676347 chr7:150676542-150676556 chr7:150676543-150676553 chr7:150676540-150676555 chr7:150676549-150676559 chr7:150676541-150676555 chr7:150676541-150676554 chr7:150676541-150676554 chr7:150676421-150676431
49	EGR1	chr7:150675224-150675875	K562	blood:	n/a	chr7:150675698-150675711
50	EGR1	chr7:150675197-150675499	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150674972-150675022	NHBE	bronchial:	n/a
2	chr7:150674972-150675022	NHBE	bronchial:	n/a
3	chr7:150675516-150675566	PANC-1	pancreas:	n/a
4	chr7:150674972-150675022	SKMC	muscle:	n/a
5	chr7:150674012-150674062	GM12878	blood:	n/a
6	chr7:150675025-150675075	Caco-2	colon:	n/a
7	chr7:150674375-150674425	MCF-7	breast:	n/a
8	chr7:150676283-150676333	Jurkat	blood:	n/a
9	chr7:150676283-150676333	Caco-2	colon:	n/a
10	chr7:150676283-150676333	AG04449	skin:	fetal
11	chr7:150675025-150675075	HMEC	breast:	n/a
12	chr7:150675516-150675566	ECC-1	luminal epithelium:	n/a
13	chr7:150674375-150674425	NT2-D1	testis:	n/a
14	chr7:150674980-150675030	AG04449	skin:	fetal
15	chr7:150674980-150675030	MCF-7	breast:	n/a
16	chr7:150674375-150674425	T-47D	breast:	n/a
17	chr7:150674375-150674425	SAEC	small airway:	n/a
18	chr7:150674980-150675030	ECC-1	luminal epithelium:	n/a
19	chr7:150674972-150675022	LNCaP	prostate:	n/a
20	chr7:150674375-150674425	NB4	blood:	n/a
21	chr7:150674753-150674803	AG09319	gingival:	n/a
22	chr7:150674980-150675030	HIPEpiC	eye:	n/a
23	chr7:150675025-150675075	HEEpiC	esophagus:	n/a
24	chr7:150674753-150674803	H1-hESC	embryonic stem cell:	embryo
25	chr7:150674596-150674646	RPTEC	kidney:	n/a
26	chr7:150674753-150674803	PrEC	prostate:	n/a
27	chr7:150675025-150675075	HAEpiC	amniotic membrane:	n/a
28	chr7:150675516-150675566	SAEC	small airway:	n/a
29	chr7:150676283-150676333	AG09309	skin:	n/a
30	chr7:150676283-150676333	HEEpiC	esophagus:	n/a
31	chr7:150674972-150675022	GM12892	blood:	n/a
32	chr7:150676364-150676414	AG04450	lung:	fetal
33	chr7:150674980-150675030	HEK293	kidney:	embryo
34	chr7:150675859-150675909	CMK	blood:	n/a
35	chr7:150674972-150675022	Jurkat	blood:	n/a
36	chr7:150675308-150675358	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:150676364-150676414	HCF	heart:	n/a
38	chr7:150676364-150676414	Jurkat	blood:	n/a
39	chr7:150676283-150676333	HL-60	blood:	n/a
40	chr7:150674753-150674803	ProgFib	skin:	n/a
41	chr7:150675025-150675075	IMR90	lung:	fetal
42	chr7:150675859-150675909	GM12878	blood:	n/a
43	chr7:150675859-150675909	MCF-7	breast:	n/a
44	chr7:150676283-150676333	GM12892	blood:	n/a
45	chr7:150674753-150674803	HCT-116	colon:	n/a
46	chr7:150674375-150674425	HEK293	kidney:	embryo
47	chr7:150676364-150676414	GM06990	blood:	n/a
48	chr7:150674753-150674803	HIPEpiC	eye:	n/a
49	chr7:150676283-150676333	AG09319	gingival:	n/a
50	chr7:150675516-150675566	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:150661579..150663428-chr7:150675690..150677350,2	MCF-7	breast:
2	chr7:150654740..150658307-chr7:150674264..150676481,3	MCF-7	breast:
3	chr7:150671828..150674694-chr7:150692153..150695076,2	MCF-7	breast:
4	chr7:150671778..150674151-chr7:150678272..150681379,4	MCF-7	breast:
5	chr7:150646673..150650094-chr7:150670937..150674779,4	MCF-7	breast:
6	chr7:150019591..150022356-chr7:150674947..150677441,2	K562	blood:
7	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:
8	chr7:150675423..150678179-chr7:150678935..150681223,3	MCF-7	breast:
9	chr7:150064708..150066870-chr7:150673905..150675576,2	MCF-7	breast:
10	chr7:150675659..150676250-chr7:150705407..150706353,2	K562	blood:
11	chr7:150671887..150673971-chr7:150915991..150917932,2	K562	blood:
12	chr16:85044766..85045536-chr7:150674758..150675258,2	HCT-116	colon:
13	chr7:150673570..150675827-chr7:150725848..150727398,2	MCF-7	breast:

Variant related genes	Relation type
KCNH2	TF binding region
KCNH2	CpG island
ENSG00000164867	chromatin interactions
ENSG00000214022	chromatin interactions
ENSG00000153786	chromatin interactions
ENSG00000127399	chromatin interactions
ENSG00000106526	chromatin interactions
ENSG00000196456	chromatin interactions
ENSG00000055118	chromatin interactions
ENSG00000243433	chromatin interactions

Extended variants
information (count: 93 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559975944	chr7:150673915-150673916	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs11978792	chr7:150673972-150673973	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs185664242	chr7:150673994-150673995	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs545384600	chr7:150674018-150674019	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs565287596	chr7:150674039-150674040	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs530977202	chr7:150674040-150674041	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs150530646	chr7:150674071-150674072	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs41312532	chr7:150674091-150674092	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs139542311	chr7:150674097-150674098	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567693437	chr7:150674172-150674173	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs72552128	chr7:150674210-150674211	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs397897362	chr7:150674212-150674213	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs371642022	chr7:150674213-150674214	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs529883363	chr7:150674256-150674257	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs3800777	chr7:150674263-150674264	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs546505668	chr7:150674279-150674280	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs41312535	chr7:150674300-150674301	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs192037974	chr7:150674348-150674349	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs116423636	chr7:150674362-150674363	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs551710672	chr7:150674375-150674376	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs568510531	chr7:150674381-150674382	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs537490731	chr7:150674384-150674385	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs371222822	chr7:150674410-150674411	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs1036145	chr7:150674430-150674431	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs77536147	chr7:150674454-150674455	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs577769502	chr7:150674478-150674479	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs368343916	chr7:150674502-150674503	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs542563329	chr7:150674519-150674520	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs554559769	chr7:150674565-150674566	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs536829589	chr7:150674600-150674601	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs372978399	chr7:150674674-150674675	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs149980534	chr7:150674717-150674718	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs35277497	chr7:150674765-150674766	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543255982	chr7:150674814-150674815	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs370289156	chr7:150674844-150674845	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs184225069	chr7:150674884-150674885	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs199472826	chr7:150674937-150674938	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs199473486	chr7:150674944-150674945	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs144338227	chr7:150674951-150674952	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs199472825	chr7:150674955-150674956	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs372029645	chr7:150674966-150674967	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs199473036	chr7:150675001-150675002	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs200559482	chr7:150675005-150675006	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs41312538	chr7:150675034-150675035	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs545717695	chr7:150675078-150675079	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs41312541	chr7:150675098-150675099	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs141944706	chr7:150675107-150675108	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs41313044	chr7:150675113-150675114	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs575698405	chr7:150675175-150675176	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs41309014	chr7:150675299-150675300	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150664600-150674000	Enhancers	Fetal Brain Male	brain
2	chr7:150670800-150674200	Bivalent Enhancer	Placenta	Placenta
3	chr7:150672200-150674000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr7:150672200-150674000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
5	chr7:150672200-150674200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:150672200-150674400	Weak transcription	Gastric	stomach
7	chr7:150672400-150674200	Weak transcription	Ovary	ovary
8	chr7:150672400-150674600	Flanking Active TSS	Fetal Brain Female	brain
9	chr7:150672400-150674800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr7:150672400-150674800	Enhancers	Pancreas	Pancrea
11	chr7:150672400-150674800	Flanking Active TSS	K562	blood
12	chr7:150672600-150674000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:150672600-150674000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr7:150672600-150674000	Bivalent Enhancer	Fetal Intestine Small	intestine
15	chr7:150672600-150674000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr7:150672600-150674000	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr7:150672600-150674200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:150672600-150674200	Active TSS	Right Ventricle	heart
19	chr7:150672600-150674400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr7:150672600-150674400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:150672600-150674400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:150672600-150674400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:150672600-150674400	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:150672600-150674800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr7:150672600-150674800	Bivalent Enhancer	Fetal Thymus	thymus
26	chr7:150672800-150674000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr7:150672800-150674000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
28	chr7:150672800-150674000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:150672800-150674000	Enhancers	Duodenum Mucosa	Duodenum
30	chr7:150672800-150674600	Bivalent Enhancer	HepG2	liver
31	chr7:150672800-150674800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr7:150672800-150675600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr7:150673000-150674000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:150673000-150674000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
35	chr7:150673000-150674000	Enhancers	Brain Anterior Caudate	brain
36	chr7:150673000-150674000	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:150673000-150674000	Enhancers	Brain Hippocampus Middle	brain
38	chr7:150673000-150674000	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr7:150673000-150674000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr7:150673000-150674200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr7:150673000-150674400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:150673000-150674600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
43	chr7:150673000-150674600	Bivalent Enhancer	Thymus	Thymus
44	chr7:150673000-150674800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
45	chr7:150673200-150674000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr7:150673200-150674800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
47	chr7:150673400-150674000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
48	chr7:150673400-150674000	Weak transcription	Lung	lung
49	chr7:150673400-150674000	Enhancers	Right Atrium	heart
50	chr7:150673400-150674000	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links