Variant report

Variant	esv3403395
Chromosome Location	chr7:150674469-150676667
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	chr7:150674432-150674691	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr7:150675939-150675957	K562	blood:	n/a	n/a
3	BHLHE40	chr7:150675764-150675783	K562	blood:	n/a	n/a
4	BHLHE40	chr7:150675990-150676483	K562	blood:	n/a	chr7:150676280-150676296
5	BHLHE40	chr7:150673865-150674614	K562	blood:	n/a	n/a
6	CBX3	chr7:150675464-150676565	K562	blood:	n/a	n/a
7	CBX3	chr7:150673567-150674800	K562	blood:	n/a	n/a
8	CCNT2	chr7:150674965-150675820	K562	blood:	n/a	chr7:150675703-150675712
9	CCNT2	chr7:150674541-150674744	K562	blood:	n/a	chr7:150674715-150674724
10	CCNT2	chr7:150676073-150676541	K562	blood:	n/a	chr7:150676330-150676339
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	chr7:150676008-150676490	H1-hESC	embryonic stem cell:	n/a	chr7:150676330-150676340
14	CHD2	chr7:150675514-150675810	K562	blood:	n/a	n/a
15	CHD2	chr7:150675620-150675770	GM12878	blood:	n/a	n/a
16	CHD2	chr7:150676082-150676396	K562	blood:	n/a	chr7:150676330-150676340
17	CHD2	chr7:150676108-150676368	GM12878	blood:	n/a	chr7:150676330-150676340
18	CHD2	chr7:150673915-150674483	K562	blood:	n/a	n/a
19	CHD2	chr7:150675560-150675802	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTBP2	chr7:150676132-150676768	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:150676060-150676210	HRE	kidney:	n/a	n/a
22	CTCF	chr7:150676060-150676210	HEK293	kidney:	n/a	n/a
23	CTCF	chr7:150675520-150675670	Caco-2	colon:	n/a	n/a
24	CTCF	chr7:150675940-150676359	K562	blood:	n/a	n/a
25	CTCF	chr7:150675939-150676437	K562	blood:	n/a	n/a
26	CTCF	chr7:150676060-150676210	SK-N-SH_RA	brain:	n/a	n/a
27	CTCF	chr7:150676020-150676170	HPF	lung:	n/a	n/a
28	CTCF	chr7:150676040-150676190	BE2_C	brain:	n/a	n/a
29	CTCF	chr7:150676060-150676210	HepG2	liver:	n/a	n/a
30	CTCF	chr7:150676017-150676267	K562	blood:	n/a	n/a
31	CTCF	chr7:150676080-150676230	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr7:150676077-150676249	GM12878	blood:	n/a	n/a
33	CTCF	chr7:150676099-150676169	K562	blood:	n/a	n/a
34	E2F6	chr7:150676412-150676592	K562	blood:	n/a	chr7:150676550-150676559 chr7:150676422-150676431
35	E2F6	chr7:150675690-150675903	K562	blood:	n/a	n/a
36	E2F6	chr7:150675494-150676067	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr7:150676064-150676387	K562	blood:	n/a	chr7:150676279-150676289 chr7:150676236-150676246
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	chr7:150675052-150675634	K562	blood:	n/a	chr7:150675224-150675234 chr7:150675223-150675232
40	EBF1	chr7:150675613-150675627	GM12878	blood:	n/a	n/a
41	EBF1	chr7:150676039-150676204	GM12878	blood:	n/a	n/a
42	EGR1	chr7:150675197-150675499	K562	blood:	n/a	n/a
43	EGR1	chr7:150676451-150676638	GM12878	blood:	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
44	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
45	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
46	EGR1	chr7:150675537-150675832	K562	blood:	n/a	chr7:150675698-150675711
47	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
48	EGR1	chr7:150675224-150675875	K562	blood:	n/a	chr7:150675698-150675711
49	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
50	ELF1	chr7:150675931-150676249	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:150676529-150676579	AG09309	skin:	n/a
2	chr7:150676529-150676579	AG09309	skin:	n/a
3	chr7:150674980-150675030	NHDF-neo	bronchial:	n/a
4	chr7:150674980-150675030	AG09309	skin:	n/a
5	chr7:150675516-150675566	HepG2	liver:	n/a
6	chr7:150676283-150676333	BE2_C	brain:	n/a
7	chr7:150676529-150676579	AG09319	gingival:	n/a
8	chr7:150675516-150675566	GM12891	blood:	n/a
9	chr7:150676364-150676414	HRCEpiC	kidney:	n/a
10	chr7:150675859-150675909	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:150676283-150676333	T-47D	breast:	n/a
12	chr7:150674753-150674803	SK-N-MC	brain:	n/a
13	chr7:150676529-150676579	SK-N-SH_RA	brain:	n/a
14	chr7:150674596-150674646	BJ	skin:	n/a
15	chr7:150675516-150675566	BE2_C	brain:	n/a
16	chr7:150674753-150674803	A549	lung:	n/a
17	chr7:150676283-150676333	NH-A	brain:	n/a
18	chr7:150676364-150676414	Hepatocyte	liver:	n/a
19	chr7:150674753-150674803	GM12892	blood:	n/a
20	chr7:150676283-150676333	MCF-7	breast:	n/a
21	chr7:150674980-150675030	BE2_C	brain:	n/a
22	chr7:150676364-150676414	PANC-1	pancreas:	n/a
23	chr7:150674972-150675022	Jurkat	blood:	n/a
24	chr7:150675025-150675075	PrEC	prostate:	n/a
25	chr7:150674972-150675022	HL-60	blood:	n/a
26	chr7:150676529-150676579	RPTEC	kidney:	n/a
27	chr7:150674980-150675030	NB4	blood:	n/a
28	chr7:150674753-150674803	PANC-1	pancreas:	n/a
29	chr7:150674753-150674803	AG04450	lung:	fetal
30	chr7:150674753-150674803	NHBE	bronchial:	n/a
31	chr7:150675516-150675566	Jurkat	blood:	n/a
32	chr7:150674972-150675022	H1-hESC	embryonic stem cell:	embryo
33	chr7:150676364-150676414	HEEpiC	esophagus:	n/a
34	chr7:150674753-150674803	IMR90	lung:	fetal
35	chr7:150674753-150674803	GM12878	blood:	n/a
36	chr7:150676283-150676333	GM06990	blood:	n/a
37	chr7:150676283-150676333	ECC-1	luminal epithelium:	n/a
38	chr7:150674980-150675030	HAEpiC	amniotic membrane:	n/a
39	chr7:150675516-150675566	AG09309	skin:	n/a
40	chr7:150675025-150675075	HRPEpiC	eye:	n/a
41	chr7:150676529-150676579	GM06990	blood:	n/a
42	chr7:150676364-150676414	BJ	skin:	n/a
43	chr7:150674972-150675022	GM06990	blood:	n/a
44	chr7:150676529-150676579	GM12892	blood:	n/a
45	chr7:150674596-150674646	GM06990	blood:	n/a
46	chr7:150675516-150675566	T-47D	breast:	n/a
47	chr7:150674980-150675030	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:150675859-150675909	GM19239	blood:	n/a
49	chr7:150676364-150676414	H1-hESC	embryonic stem cell:	embryo
50	chr7:150675308-150675358	HEK293	kidney:	embryo

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

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

Extended variants
information (count: 87 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	rs111475441	chr7:150675424-150675425	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs544650745	chr7:150675448-150675449	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs543771018	chr7:150675490-150675491	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs371306620	chr7:150675491-150675492	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs564230054	chr7:150675496-150675497	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs530158155	chr7:150675497-150675498	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs189034123	chr7:150675499-150675500	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs560092402	chr7:150675558-150675559	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs35633617	chr7:150675562-150675563	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374854924	chr7:150675615-150675616	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs552045329	chr7:150675618-150675619	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs41309017	chr7:150675627-150675628	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs41313047	chr7:150675666-150675667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs140655282	chr7:150675733-150675734	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs41309020	chr7:150675750-150675751	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs184163951	chr7:150675754-150675755	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs61196699	chr7:150675815-150675816	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs114073978	chr7:150675841-150675842	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs11771808	chr7:150675868-150675869	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs11771844	chr7:150675910-150675911	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573470547	chr7:150675929-150675930	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs79108012	chr7:150675942-150675943	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs369383911	chr7:150675953-150675954	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs61703193	chr7:150676015-150676016	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs11765684	chr7:150676017-150676018	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	5 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:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150672400-150674600	Flanking Active TSS	Fetal Brain Female	brain
2	chr7:150672400-150674800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr7:150672400-150674800	Enhancers	Pancreas	Pancrea
4	chr7:150672400-150674800	Flanking Active TSS	K562	blood
5	chr7:150672600-150674800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
6	chr7:150672600-150674800	Bivalent Enhancer	Fetal Thymus	thymus
7	chr7:150672800-150674600	Bivalent Enhancer	HepG2	liver
8	chr7:150672800-150674800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr7:150672800-150675600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr7:150673000-150674600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr7:150673000-150674600	Bivalent Enhancer	Thymus	Thymus
12	chr7:150673000-150674800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
13	chr7:150673200-150674800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:150673400-150674800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:150673600-150674600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:150673600-150674800	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr7:150673600-150676600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:150673800-150674800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr7:150673800-150674800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
20	chr7:150673800-150675600	Weak transcription	A549	lung
21	chr7:150674000-150674600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:150674000-150674600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
24	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
25	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr7:150674000-150674600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
29	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
31	chr7:150674000-150674600	ZNF genes & repeats	Lung	lung
32	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
33	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
34	chr7:150674000-150674600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr7:150674000-150674800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:150674000-150674800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
37	chr7:150674000-150674800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:150674000-150674800	Flanking Active TSS	Fetal Brain Male	brain
39	chr7:150674000-150674800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr7:150674000-150674800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr7:150674000-150674800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr7:150674000-150675600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr7:150674200-150674600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:150674200-150674600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr7:150674200-150674600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:150674200-150674600	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
47	chr7:150674200-150674600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
48	chr7:150674200-150674600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:150674200-150674600	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr7:150674200-150674600	Flanking Active TSS	Right Ventricle	heart

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