Variant report

Variant	nsv523899
Chromosome Location	chr12:50354437-50366300
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	ATF3	chr12:50360656-50361096	A549	lung:	n/a	n/a
2	BACH1	chr12:50360698-50361605	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr12:50361370-50361539	K562	blood:	n/a	n/a
4	BCL3	chr12:50360675-50361617	A549	lung:	n/a	chr12:50360893-50360906
5	BHLHE40	chr12:50360554-50360555	HepG2	liver:	n/a	n/a
6	BHLHE40	chr12:50360337-50361780	K562	blood:	n/a	n/a
7	BHLHE40	chr12:50361245-50361724	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:50362269-50362497	K562	blood:	n/a	n/a
9	BHLHE40	chr12:50356805-50357004	HepG2	liver:	n/a	n/a
10	BHLHE40	chr12:50361251-50361775	HepG2	liver:	n/a	n/a
11	BHLHE40	chr12:50360839-50361028	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:50362156-50362493	HepG2	liver:	n/a	n/a
13	BHLHE40	chr12:50360987-50361630	A549	lung:	n/a	n/a
14	BHLHE40	chr12:50356808-50357069	A549	lung:	n/a	n/a
15	BRCA1	chr12:50360947-50361127	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr12:50361306-50361504	HepG2	liver:	n/a	n/a
17	BRCA1	chr12:50360862-50361041	HepG2	liver:	n/a	n/a
18	CBX3	chr12:50360748-50361605	K562	blood:	n/a	n/a
19	CCNT2	chr12:50360890-50361522	K562	blood:	n/a	n/a
20	CEBPB	chr12:50360906-50361147	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:50361405-50361419	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr12:50356748-50357096	Hela-S3	cervix:	n/a	n/a
23	CHD1	chr12:50361251-50361329	GM12878	blood:	n/a	n/a
24	CHD2	chr12:50360889-50361061	GM12878	blood:	n/a	n/a
25	CHD2	chr12:50360908-50360924	HepG2	liver:	n/a	n/a
26	CHD2	chr12:50360776-50361203	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr12:50360872-50361511	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr12:50361216-50361434	HepG2	liver:	n/a	n/a
29	CHD2	chr12:50360779-50361690	K562	blood:	n/a	n/a
30	CHD2	chr12:50356719-50357172	Hela-S3	cervix:	n/a	n/a
31	CREB1	chr12:50361159-50361599	A549	lung:	n/a	n/a
32	CREB1	chr12:50360779-50361104	A549	lung:	n/a	n/a
33	CREB1	chr12:50360844-50360989	A549	lung:	n/a	n/a
34	CTCF	chr12:50361262-50361517	MCF-7	breast:	n/a	chr12:50361387-50361405 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
35	CTCF	chr12:50360880-50361030	HCPEpiC	choroid plexus:	n/a	chr12:50360927-50360948 chr12:50360925-50360943 chr12:50360926-50360942
36	CTCF	chr12:50361320-50361470	HRE	kidney:	n/a	chr12:50361387-50361405 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
37	CTCF	chr12:50361234-50361532	Lung_OC	lung:	n/a	chr12:50361387-50361405 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
38	CTCF	chr12:50360348-50362075	SK-N-SH	brain:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
39	CTCF	chr12:50360762-50361533	K562	blood:	n/a	chr12:50361387-50361405 chr12:50360927-50360948 chr12:50360925-50360943 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50360926-50360942 chr12:50361389-50361410 chr12:50361388-50361404
40	CTCF	chr12:50361320-50361470	HCT-116	colon:	n/a	chr12:50361387-50361405 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
41	CTCF	chr12:50360860-50361010	SAEC	small airway:	n/a	chr12:50360927-50360948 chr12:50360925-50360943 chr12:50360926-50360942
42	CTCF	chr12:50360765-50361139	GM12878	blood:	n/a	chr12:50360927-50360948 chr12:50360925-50360943 chr12:50360926-50360942
43	CTCF	chr12:50361252-50361472	A549	lung:	n/a	chr12:50361387-50361405 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
44	CTCF	chr12:50361300-50361450	GM12878	blood:	n/a	chr12:50361387-50361405 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
45	CTCF	chr12:50361280-50361430	GM12878	blood:	n/a	chr12:50361387-50361405 chr12:50361307-50361315 chr12:50361390-50361399 chr12:50361389-50361410 chr12:50361388-50361404
46	CTCF	chr12:50361200-50361350	WI-38	lung:	n/a	chr12:50361307-50361315
47	CTCF	chr12:50366160-50366310	HBMEC	blood vessel:	n/a	chr12:50366160-50366169
48	CTCF	chr12:50364500-50364650	A549	lung:	n/a	n/a
49	CTCF	chr12:50360880-50361030	AG10803	skin:	n/a	chr12:50360927-50360948 chr12:50360925-50360943 chr12:50360926-50360942
50	CTCF	chr12:50360860-50361010	HMF	breast:	n/a	chr12:50360927-50360948 chr12:50360925-50360943 chr12:50360926-50360942

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50355821-50355871	SK-N-MC	brain:	n/a
2	chr12:50360952-50361002	BJ	skin:	n/a
3	chr12:50355821-50355871	SK-N-MC	brain:	n/a
4	chr12:50360952-50361002	BJ	skin:	n/a
5	chr12:50356869-50356919	HRE	kidney:	n/a
6	chr12:50355307-50355357	AG10803	skin:	n/a
7	chr12:50361294-50361344	IMR90	lung:	fetal
8	chr12:50361401-50361451	PrEC	prostate:	n/a
9	chr12:50360945-50360995	Hela-S3	cervix:	n/a
10	chr12:50360952-50361002	BE2_C	brain:	n/a
11	chr12:50361401-50361451	SK-N-SH	brain:	n/a
12	chr12:50361467-50361517	HMEC	breast:	n/a
13	chr12:50361401-50361451	HCF	heart:	n/a
14	chr12:50356869-50356919	HEK293	kidney:	embryo
15	chr12:50365171-50365221	Caco-2	colon:	n/a
16	chr12:50355821-50355871	H1-hESC	embryonic stem cell:	embryo
17	chr12:50355307-50355357	NHDF-neo	bronchial:	n/a
18	chr12:50355821-50355871	HL-60	blood:	n/a
19	chr12:50365171-50365221	T-47D	breast:	n/a
20	chr12:50361401-50361451	NB4	blood:	n/a
21	chr12:50356869-50356919	AG09319	gingival:	n/a
22	chr12:50355821-50355871	ProgFib	skin:	n/a
23	chr12:50365827-50365877	HNPCEpiC	eye:	n/a
24	chr12:50361573-50361623	HIPEpiC	eye:	n/a
25	chr12:50361573-50361623	Hela-S3	cervix:	n/a
26	chr12:50355821-50355871	HEK293	kidney:	embryo
27	chr12:50361401-50361451	AoSMC	blood vessel:	n/a
28	chr12:50360952-50361002	A549	lung:	n/a
29	chr12:50366280-50366330	CMK	blood:	n/a
30	chr12:50360945-50360995	GM19239	blood:	n/a
31	chr12:50359051-50359101	T-47D	breast:	n/a
32	chr12:50355995-50356045	GM19239	blood:	n/a
33	chr12:50360945-50360995	PrEC	prostate:	n/a
34	chr12:50365171-50365221	HepG2	liver:	n/a
35	chr12:50357352-50357402	GM12892	blood:	n/a
36	chr12:50365827-50365877	BJ	skin:	n/a
37	chr12:50365171-50365221	MCF10A-Er-Src	breast:	n/a
38	chr12:50361573-50361623	LNCaP	prostate:	n/a
39	chr12:50354840-50354890	NH-A	brain:	n/a
40	chr12:50355995-50356045	HEEpiC	esophagus:	n/a
41	chr12:50360952-50361002	PrEC	prostate:	n/a
42	chr12:50361294-50361344	HEK293	kidney:	embryo
43	chr12:50355995-50356045	AG09309	skin:	n/a
44	chr12:50361573-50361623	PFSK-1	brain:	n/a
45	chr12:50365827-50365877	Jurkat	blood:	n/a
46	chr12:50354998-50355048	GM06990	blood:	n/a
47	chr12:50361679-50361729	HepG2	liver:	n/a
48	chr12:50361467-50361517	Caco-2	colon:	n/a
49	chr12:50355821-50355871	SK-N-SH_RA	brain:	n/a
50	chr12:50361294-50361344	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50352910..50356046-chr12:50357826..50360762,4	K562	blood:
2	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
3	chr12:50362033..50363685-chr12:50379610..50381169,2	K562	blood:
4	chr12:50358725..50360961-chr12:50462832..50465036,2	K562	blood:
5	chr12:50360734..50361410-chr12:50451208..50452167,2	MCF-7	breast:
6	chr12:50154851..50157744-chr12:50364443..50366192,2	K562	blood:
7	chr12:50358386..50360982-chr12:50417949..50420523,2	MCF-7	breast:
8	chr12:50362211..50363749-chr12:50366597..50368397,2	K562	blood:
9	chr12:50356903..50358406-chr12:50425731..50427880,2	MCF-7	breast:
10	chr12:50316423..50318171-chr12:50364926..50367311,2	K562	blood:
11	chr12:50358701..50362803-chr12:50449341..50451682,4	MCF-7	breast:
12	chr12:50361097..50363136-chr12:50368065..50369960,2	MCF-7	breast:
13	chr12:50348137..50350764-chr12:50360835..50363285,2	K562	blood:
14	chr12:50360531..50361497-chr12:50464033..50464946,8	MCF-7	breast:
15	chr12:50361163..50363530-chr12:50480860..50483276,2	MCF-7	breast:
16	chr12:50359856..50363195-chr12:50464299..50467277,4	MCF-7	breast:
17	chr12:50359827..50361683-chr12:50418817..50420770,2	MCF-7	breast:
18	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
19	chr12:50361365..50361915-chr12:50451095..50451753,2	MCF-7	breast:
20	chr12:50361277..50361786-chr12:50575239..50575897,2	MCF-7	breast:
21	chr12:50360423..50362281-chr12:50463512..50464987,20	MCF-7	breast:
22	chr12:50360085..50362096-chr12:50467242..50469135,2	K562	blood:
23	chr12:50359402..50360099-chr12:50450046..50450669,2	MCF-7	breast:
24	chr12:50356730..50360184-chr12:50363549..50366213,4	MCF-7	breast:
25	chr12:50364552..50366363-chr12:50449249..50451559,2	MCF-7	breast:
26	chr12:50361058..50363357-chr12:50474948..50477401,2	MCF-7	breast:
27	chr12:50360101..50361853-chr12:50463828..50465034,15	K562	blood:
28	chr12:50360045..50361666-chr12:50451717..50454140,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RACGAP1-1	chr12:50356450-50356566	ENSG00000257588.1
2	lnc-RACGAP1-1	chr12:50356450-50356707	ENSG00000257588.1

Variant related genes	Relation type
ENSG00000257378	TF binding region
AQP5	TF binding region
AQP6	TF binding region
ENSG00000257588	TF binding region
ENSG00000257378	CpG island
AQP5	CpG island
AQP6	CpG island
ENSG00000257588	CpG island
ENSG00000161800	chromatin interactions
ENSG00000086159	chromatin interactions
ENSG00000257378	chromatin interactions
ENSG00000257771	chromatin interactions
ENSG00000257588	chromatin interactions
ENSG00000110881	chromatin interactions
ENSG00000161798	chromatin interactions
ENSG00000066117	chromatin interactions

Extended variants
information (count: 580 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3759129	chr12:50354437-50354438	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539104649	chr12:50354447-50354448	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs563351480	chr12:50354466-50354467	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs539123232	chr12:50354471-50354472	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138301402	chr12:50354496-50354497	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs188542913	chr12:50354529-50354530	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs149618662	chr12:50354532-50354533	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs146113304	chr12:50354567-50354568	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs552607811	chr12:50354569-50354570	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs575035541	chr12:50354598-50354599	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs570905890	chr12:50354633-50354634	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs539850926	chr12:50354754-50354755	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs116165803	chr12:50354757-50354758	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs535009774	chr12:50354785-50354786	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528995710	chr12:50354797-50354798	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs56062413	chr12:50354798-50354799	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549140047	chr12:50354800-50354801	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562217599	chr12:50354801-50354802	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs531424014	chr12:50354879-50354880	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs193110112	chr12:50354894-50354895	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs565866514	chr12:50354925-50354926	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367748231	chr12:50355051-50355052	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs546814282	chr12:50355065-50355066	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534093655	chr12:50355200-50355201	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547054919	chr12:50355274-50355275	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs145951089	chr12:50355316-50355317	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185659043	chr12:50355354-50355355	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559114758	chr12:50355432-50355433	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569298532	chr12:50355789-50355790	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538064477	chr12:50355791-50355792	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs555099046	chr12:50355812-50355813	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575071552	chr12:50355832-50355833	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs532533853	chr12:50355846-50355847	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs138665659	chr12:50355847-50355848	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540509756	chr12:50355854-50355855	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs568521335	chr12:50355864-50355865	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs142676062	chr12:50355871-50355872	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs139623970	chr12:50355888-50355889	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs143334982	chr12:50355899-50355900	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs146740002	chr12:50355906-50355907	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs398123054	chr12:50355913-50355914	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs398123055	chr12:50355934-50355935	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs199524477	chr12:50355937-50355938	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs139174720	chr12:50355954-50355955	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147337355	chr12:50355993-50355994	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs144062328	chr12:50356009-50356010	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs371801820	chr12:50356025-50356026	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs375720885	chr12:50356056-50356057	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs372058000	chr12:50356057-50356058	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs373259927	chr12:50356095-50356096	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50352600-50354600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:50352600-50354600	Enhancers	HUVEC	blood vessel
3	chr12:50352800-50354800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50352800-50354800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:50352800-50355400	Enhancers	Lung	lung
6	chr12:50353000-50354600	Enhancers	HSMM	muscle
7	chr12:50353000-50354800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr12:50353000-50354800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:50353000-50354800	Enhancers	HSMMtube	muscle
10	chr12:50353000-50357400	Enhancers	HMEC	breast
11	chr12:50353200-50354600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
12	chr12:50353200-50354800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr12:50353200-50354800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:50353200-50354800	Enhancers	A549	lung
15	chr12:50353200-50355000	Flanking Active TSS	Hela-S3	cervix
16	chr12:50353200-50355200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:50353200-50355200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr12:50353200-50355200	Enhancers	Gastric	stomach
19	chr12:50353400-50354600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:50353400-50354800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:50353400-50354800	Enhancers	Dnd41	blood
22	chr12:50353400-50355000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:50353400-50355000	Bivalent Enhancer	Adipose Nuclei	Adipose
24	chr12:50353400-50355000	Enhancers	Left Ventricle	heart
25	chr12:50353400-50355000	Enhancers	Pancreas	Pancrea
26	chr12:50353400-50355200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr12:50353400-50355200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr12:50353400-50355200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr12:50353400-50355200	Bivalent Enhancer	NH-A	brain
30	chr12:50353400-50355400	Bivalent Enhancer	Fetal Lung	lung
31	chr12:50353400-50357400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:50353600-50354600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
33	chr12:50353600-50354800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:50353600-50354800	Bivalent Enhancer	Fetal Heart	heart
35	chr12:50353600-50354800	Enhancers	Right Atrium	heart
36	chr12:50353600-50354800	Bivalent Enhancer	HepG2	liver
37	chr12:50353600-50357200	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr12:50353600-50358400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr12:50353800-50355000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:50354000-50354800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:50354000-50354800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:50354000-50354800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr12:50354000-50354800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:50354000-50355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:50354000-50356200	Bivalent Enhancer	Spleen	Spleen
46	chr12:50354200-50354600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr12:50354200-50354600	Weak transcription	Right Ventricle	heart
48	chr12:50354200-50354800	Bivalent Enhancer	Fetal Kidney	kidney
49	chr12:50354200-50355200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr12:50354400-50354600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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