Variant report

Variant	nsv558838
Chromosome Location	chr12:50355329-50358054
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	BHLHE40	chr12:50356805-50357004	HepG2	liver:	n/a	n/a
2	BHLHE40	chr12:50356808-50357069	A549	lung:	n/a	n/a
3	CEBPB	chr12:50356748-50357096	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr12:50356719-50357172	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr12:50355870-50355957	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:50356420-50356570	Hela-S3	cervix:	n/a	n/a
7	E2F6	chr12:50355020-50355563	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr12:50355084-50355660	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr12:50355662-50356123	H1-hESC	embryonic stem cell:	n/a	chr12:50355673-50355688
10	ELK1	chr12:50356809-50357088	Hela-S3	cervix:	n/a	n/a
11	EP300	chr12:50356524-50357248	SK-N-SH	brain:	n/a	n/a
12	EP300	chr12:50356622-50357111	T-47D	breast:	n/a	n/a
13	EP300	chr12:50356548-50357280	ECC-1	luminal epithelium:	n/a	n/a
14	EP300	chr12:50356292-50357440	ECC-1	luminal epithelium:	n/a	n/a
15	EP300	chr12:50356559-50357126	T-47D	breast:	n/a	n/a
16	EP300	chr12:50356801-50357120	Hela-S3	cervix:	n/a	n/a
17	ESR1	chr12:50356344-50357074	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr12:50356400-50357069	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr12:50356330-50357135	ECC-1	luminal epithelium:	n/a	n/a
20	ESR1	chr12:50356364-50357175	ECC-1	luminal epithelium:	n/a	n/a
21	FOS	chr12:50356727-50357063	HUVEC	blood vessel:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
22	FOS	chr12:50356741-50357027	MCF10A-Er-Src	breast:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
23	FOS	chr12:50356689-50357049	MCF10A-Er-Src	breast:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
24	FOS	chr12:50356650-50357022	MCF10A-Er-Src	breast:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
25	FOS	chr12:50356774-50357002	MCF10A-Er-Src	breast:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
26	FOSL2	chr12:50356710-50356958	A549	lung:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
27	FOSL2	chr12:50356520-50357223	SK-N-SH	brain:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
28	FOSL2	chr12:50356526-50357230	A549	lung:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
29	FOSL2	chr12:50356659-50357154	MCF-7	breast:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
30	FOSL2	chr12:50356588-50357192	MCF-7	breast:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
31	FOXA1	chr12:50356713-50357088	T-47D	breast:	n/a	n/a
32	FOXA1	chr12:50356718-50357033	T-47D	breast:	n/a	n/a
33	FOXA2	chr12:50356530-50357165	A549	lung:	n/a	n/a
34	FOXA2	chr12:50356696-50357109	A549	lung:	n/a	n/a
35	GABPA	chr12:50355136-50355444	H1-hESC	embryonic stem cell:	n/a	n/a
36	GABPA	chr12:50355702-50355945	H1-hESC	embryonic stem cell:	n/a	n/a
37	GATA3	chr12:50356509-50357264	SK-N-SH	brain:	n/a	chr12:50356857-50356866 chr12:50356947-50356955
38	GATA3	chr12:50356460-50357311	SK-N-SH	brain:	n/a	chr12:50356857-50356866 chr12:50356947-50356955 chr12:50357259-50357268
39	GATA3	chr12:50356625-50357045	T-47D	breast:	n/a	chr12:50356857-50356866 chr12:50356947-50356955
40	GTF2F1	chr12:50356790-50357119	Hela-S3	cervix:	n/a	n/a
41	GTF2F1	chr12:50355350-50355360	H1-hESC	embryonic stem cell:	n/a	n/a
42	HDAC2	chr12:50356925-50357232	HepG2	liver:	n/a	n/a
43	JUND	chr12:50356705-50357117	A549	lung:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
44	JUND	chr12:50356520-50357162	SK-N-SH	brain:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
45	JUND	chr12:50356706-50357071	A549	lung:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
46	JUND	chr12:50356525-50357280	SK-N-SH	brain:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
47	JUND	chr12:50356470-50357252	MCF-7	breast:	n/a	chr12:50356859-50356867 chr12:50356857-50356869 chr12:50356858-50356868
48	MAFK	chr12:50356791-50357078	Hela-S3	cervix:	n/a	n/a
49	MAX	chr12:50356662-50357183	SK-N-SH	brain:	n/a	n/a
50	MAX	chr12:50356294-50357396	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50357352-50357402	HCM	heart:	n/a
2	chr12:50357352-50357402	SK-N-MC	brain:	n/a
3	chr12:50355307-50355357	GM12878	blood:	n/a
4	chr12:50355307-50355357	ECC-1	luminal epithelium:	n/a
5	chr12:50355307-50355357	U87	brain:	n/a
6	chr12:50355821-50355871	PFSK-1	brain:	n/a
7	chr12:50357352-50357402	ProgFib	skin:	n/a
8	chr12:50357352-50357402	PrEC	prostate:	n/a
9	chr12:50355307-50355357	HIPEpiC	eye:	n/a
10	chr12:50355307-50355357	CMK	blood:	n/a
11	chr12:50355307-50355357	HCF	heart:	n/a
12	chr12:50355821-50355871	LNCaP	prostate:	n/a
13	chr12:50356869-50356919	K562	blood:	n/a
14	chr12:50357352-50357402	AG09319	gingival:	n/a
15	chr12:50355821-50355871	AG09319	gingival:	n/a
16	chr12:50355821-50355871	NH-A	brain:	n/a
17	chr12:50355821-50355871	HPAEpiC	pulmonary alveolar:	n/a
18	chr12:50355307-50355357	SAEC	small airway:	n/a
19	chr12:50355307-50355357	ProgFib	skin:	n/a
20	chr12:50356869-50356919	CMK	blood:	n/a
21	chr12:50355307-50355357	GM12891	blood:	n/a
22	chr12:50355995-50356045	GM12891	blood:	n/a
23	chr12:50355821-50355871	NHDF-neo	bronchial:	n/a
24	chr12:50357352-50357402	HCT-116	colon:	n/a
25	chr12:50355307-50355357	HRE	kidney:	n/a
26	chr12:50357352-50357402	HIPEpiC	eye:	n/a
27	chr12:50356869-50356919	SK-N-SH_RA	brain:	n/a
28	chr12:50355821-50355871	AG04450	lung:	fetal
29	chr12:50355995-50356045	AG10803	skin:	n/a
30	chr12:50356869-50356919	Caco-2	colon:	n/a
31	chr12:50357352-50357402	A549	lung:	n/a
32	chr12:50356869-50356919	AG09309	skin:	n/a
33	chr12:50355995-50356045	Caco-2	colon:	n/a
34	chr12:50355995-50356045	GM12892	blood:	n/a
35	chr12:50355821-50355871	PANC-1	pancreas:	n/a
36	chr12:50355307-50355357	PFSK-1	brain:	n/a
37	chr12:50355995-50356045	NHDF-neo	bronchial:	n/a
38	chr12:50355995-50356045	GM06990	blood:	n/a
39	chr12:50355307-50355357	NT2-D1	testis:	n/a
40	chr12:50355821-50355871	IMR90	lung:	fetal
41	chr12:50355995-50356045	HIPEpiC	eye:	n/a
42	chr12:50357352-50357402	AG10803	skin:	n/a
43	chr12:50355821-50355871	AoSMC	blood vessel:	n/a
44	chr12:50355307-50355357	Jurkat	blood:	n/a
45	chr12:50355995-50356045	PANC-1	pancreas:	n/a
46	chr12:50356869-50356919	AG04449	skin:	fetal
47	chr12:50356869-50356919	PrEC	prostate:	n/a
48	chr12:50356869-50356919	AoSMC	blood vessel:	n/a
49	chr12:50355307-50355357	HMEC	breast:	n/a
50	chr12:50355995-50356045	HCM	heart:	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	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
4	chr12:50356903..50358406-chr12:50425731..50427880,2	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
ENSG00000257588	TF binding region
AQP5	TF binding region
AQP6	TF binding region
ENSG00000257588	CpG island
AQP5	CpG island
AQP6	CpG island
ENSG00000257588	chromatin interactions
ENSG00000161798	chromatin interactions
ENSG00000161800	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	rs200416343	chr12:50356118-50356119	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368250216	chr12:50356133-50356134	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs113790287	chr12:50356142-50356143	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs199766582	chr12:50356154-50356155	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs372046995	chr12:50356169-50356170	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs139560378	chr12:50356175-50356176	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs11169227	chr12:50356177-50356178	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs3832811	chr12:50356182-50356183	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs371760028	chr12:50356183-50356184	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs397843053	chr12:50356184-50356185	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs139810179	chr12:50356195-50356196	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs527621663	chr12:50356211-50356212	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs74091166	chr12:50356220-50356221	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs377231977	chr12:50356221-50356222	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs5798119	chr12:50356237-50356238	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs397813897	chr12:50356242-50356243	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs76157036	chr12:50356244-50356245	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs370019607	chr12:50356260-50356261	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs532564389	chr12:50356269-50356270	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs200271352	chr12:50356314-50356315	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs145585963	chr12:50356315-50356316	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs368792126	chr12:50356319-50356320	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs552563216	chr12:50356362-50356363	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs538333945	chr12:50356518-50356519	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs188478315	chr12:50356533-50356534	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs568616769	chr12:50356544-50356545	Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50352800-50355400	Enhancers	Lung	lung
2	chr12:50353000-50357400	Enhancers	HMEC	breast
3	chr12:50353400-50355400	Bivalent Enhancer	Fetal Lung	lung
4	chr12:50353400-50357400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:50353600-50357200	Bivalent Enhancer	Fetal Intestine Small	intestine
6	chr12:50353600-50358400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:50354000-50356200	Bivalent Enhancer	Spleen	Spleen
8	chr12:50354400-50355800	Bivalent Enhancer	Small Intestine	intestine
9	chr12:50354600-50355400	Bivalent Enhancer	Primary B cells from cord blood	blood
10	chr12:50354600-50355400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr12:50354600-50355400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
12	chr12:50354600-50355400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:50354600-50355400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:50354600-50355400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:50354600-50355800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr12:50354600-50356000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr12:50354600-50356400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:50354800-50355400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr12:50354800-50355400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr12:50354800-50355400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:50354800-50355400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:50354800-50355400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:50354800-50355400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
24	chr12:50354800-50355400	Bivalent Enhancer	Fetal Brain Male	brain
25	chr12:50354800-50355400	Enhancers	Fetal Heart	heart
26	chr12:50354800-50355400	Flanking Active TSS	Right Ventricle	heart
27	chr12:50354800-50355600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr12:50354800-50355600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:50354800-50356000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:50354800-50356000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr12:50354800-50356000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:50354800-50356200	Weak transcription	A549	lung
33	chr12:50354800-50356200	Weak transcription	HSMMtube	muscle
34	chr12:50354800-50356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:50354800-50356400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
36	chr12:50354800-50357000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr12:50355000-50355400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:50355000-50355400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:50355000-50355400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:50355000-50355400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:50355000-50355400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:50355000-50355400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:50355000-50355400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr12:50355000-50355400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
45	chr12:50355000-50355400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:50355000-50355400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:50355000-50355400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:50355000-50355400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
49	chr12:50355000-50355400	Active TSS	Brain Anterior Caudate	brain
50	chr12:50355000-50355400	Active TSS	Brain Hippocampus Middle	brain

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