Variant report

Variant	rs367625394
Chromosome Location	chr12:104607709-104607710
allele	-/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	REST	chr12:104607545-104608145	A549	lung:	n/a	n/a
2	EP300	chr12:104607630-104608104	T-47D	breast:	n/a	n/a
3	REST	chr12:104607638-104608121	PFSK-1	brain:	n/a	n/a
4	GATA3	chr12:104607705-104608229	SK-N-SH	brain:	n/a	n/a
5	ESR1	chr12:104607662-104607972	T-47D	breast:	n/a	n/a
6	EP300	chr12:104607550-104608143	A549	lung:	n/a	n/a
7	FOXA2	chr12:104607486-104608174	A549	lung:	n/a	chr12:104607741-104607753 chr12:104607761-104607773
8	EP300	chr12:104607661-104607960	T-47D	breast:	n/a	n/a
9	PBX3	chr12:104607649-104608216	SK-N-SH	brain:	n/a	n/a
10	RCOR1	chr12:104607564-104608232	IMR90	lung:	n/a	n/a
11	PBX3	chr12:104607698-104608339	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr12:104607648-104608413	SK-N-SH	brain:	n/a	n/a
13	FOXA1	chr12:104607702-104608014	T-47D	breast:	n/a	chr12:104607741-104607753 chr12:104607761-104607773
14	TCF7L2	chr12:104607701-104608185	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr12:104607656-104608212	SK-N-SH	brain:	n/a	n/a
16	TCF12	chr12:104607409-104608582	A549	lung:	n/a	chr12:104608377-104608387
17	ESR1	chr12:104607703-104607988	T-47D	breast:	n/a	n/a
18	GATA3	chr12:104607552-104608198	A549	lung:	n/a	n/a
19	EP300	chr12:104607628-104608286	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr12:104607532-104608483	SK-N-SH	brain:	n/a	chr12:104608377-104608387
21	POLR2A	chr12:104607579-104608308	PFSK-1	brain:	n/a	n/a
22	REST	chr12:104607675-104608078	PFSK-1	brain:	n/a	n/a
23	FOSL2	chr12:104607558-104608362	A549	lung:	n/a	n/a
24	SP1	chr12:104607564-104608334	A549	lung:	n/a	n/a
25	SP1	chr12:104607540-104608232	A549	lung:	n/a	n/a
26	GATA3	chr12:104607642-104608130	T-47D	breast:	n/a	n/a
27	ESR1	chr12:104607614-104608002	T-47D	breast:	n/a	n/a
28	NFIC	chr12:104607662-104608326	SK-N-SH	brain:	n/a	n/a
29	FOXA1	chr12:104607546-104608017	T-47D	breast:	n/a	chr12:104607741-104607753 chr12:104607761-104607773
30	FOXA1	chr12:104607644-104607937	HepG2	liver:	n/a	chr12:104607741-104607753 chr12:104607761-104607773
31	ESR1	chr12:104607644-104608057	T-47D	breast:	n/a	n/a
32	POLR2A	chr12:104607603-104608153	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr12:104607561-104608156	PANC-1	pancreas:	n/a	n/a
34	JUND	chr12:104607663-104608119	A549	lung:	n/a	n/a
35	FOXA2	chr12:104607493-104608080	A549	lung:	n/a	chr12:104607741-104607753 chr12:104607761-104607773
36	TCF12	chr12:104607631-104608498	SK-N-SH	brain:	n/a	chr12:104608377-104608387
37	POLR2A	chr12:104607677-104608039	U87	brain:	n/a	n/a
38	EP300	chr12:104607549-104608283	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104605545..104609502-chr12:104611890..104614832,4	MCF-7	breast:
2	chr12:104606650..104611349-chr12:104679680..104683932,8	K562	blood:
3	chr12:104529918..104532327-chr12:104605294..104607957,2	MCF-7	breast:
4	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:
5	chr12:104606513..104608916-chr12:104687474..104689999,2	K562	blood:

Variant related genes	Relation type
TXNRD1	TF binding region
ENSG00000120837	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3408844	chr12:104607310-104607778	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104599200-104609200	Weak transcription	Ovary	ovary
2	chr12:104602000-104609200	Weak transcription	HSMM	muscle
3	chr12:104605200-104607800	Weak transcription	NHDF-Ad	bronchial
4	chr12:104606400-104607800	Enhancers	A549	lung
5	chr12:104606800-104607800	Weak transcription	Osteobl	bone
6	chr12:104607000-104609200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:104607400-104607800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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