Variant report

Variant	rs61915713
Chromosome Location	chr12:26281230-26281231
allele	C/T
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	TCF12	chr12:26280886-26281701	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr12:26280969-26281484	MCF-7	breast:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281245-26281253 chr12:26281239-26281260
3	EP300	chr12:26281084-26281425	Hela-S3	cervix:	n/a	chr12:26281293-26281302
4	FOS	chr12:26281159-26281359	MCF10A-Er-Src	breast:	n/a	chr12:26281293-26281302 chr12:26281293-26281303 chr12:26281293-26281303 chr12:26281295-26281302
5	JUND	chr12:26281058-26281479	Hela-S3	cervix:	n/a	chr12:26281293-26281302 chr12:26281293-26281303 chr12:26281293-26281303 chr12:26281295-26281302
6	GATA3	chr12:26281046-26281356	T-47D	breast:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281245-26281253 chr12:26281239-26281260
7	EP300	chr12:26281101-26281476	SK-N-SH_RA	brain:	n/a	chr12:26281293-26281302
8	FOSL2	chr12:26280961-26281602	SK-N-SH	brain:	n/a	chr12:26281293-26281302 chr12:26281293-26281303 chr12:26281293-26281303 chr12:26281295-26281302
9	FOS	chr12:26281119-26281425	MCF10A-Er-Src	breast:	n/a	chr12:26281293-26281302 chr12:26281293-26281303 chr12:26281293-26281303 chr12:26281295-26281302
10	RCOR1	chr12:26281113-26281373	Hela-S3	cervix:	n/a	n/a
11	GATA3	chr12:26280875-26281667	SK-N-SH	brain:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281245-26281253 chr12:26281239-26281260
12	NFIC	chr12:26280992-26281526	SK-N-SH	brain:	n/a	n/a
13	JUN	chr12:26281114-26281597	Hela-S3	cervix:	n/a	chr12:26281293-26281302 chr12:26281293-26281303 chr12:26281293-26281303 chr12:26281295-26281302
14	TCF12	chr12:26280904-26281792	SK-N-SH	brain:	n/a	n/a
15	GATA3	chr12:26280803-26281742	SK-N-SH	brain:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281245-26281253 chr12:26281239-26281260
16	PBX3	chr12:26281045-26281530	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr12:26280941-26281352	MCF-7	breast:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281245-26281253 chr12:26281239-26281260
18	JUND	chr12:26281006-26281677	SK-N-SH	brain:	n/a	chr12:26281293-26281302 chr12:26281293-26281303 chr12:26281293-26281303 chr12:26281295-26281302
19	GATA2	chr12:26281086-26281389	SH-SY5Y	brain:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281243-26281257 chr12:26281246-26281253 chr12:26281239-26281260
20	CEBPB	chr12:26280679-26281435	Hela-S3	cervix:	n/a	chr12:26281190-26281201
21	GATA2	chr12:26280962-26281396	HUVEC	blood vessel:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281243-26281257 chr12:26281246-26281253 chr12:26281239-26281260
22	EP300	chr12:26280932-26281678	SK-N-SH	brain:	n/a	chr12:26281293-26281302
23	PBX3	chr12:26281109-26281531	SK-N-SH	brain:	n/a	n/a
24	GATA3	chr12:26281039-26281480	SH-SY5Y	brain:	n/a	chr12:26281244-26281254 chr12:26281295-26281304 chr12:26281241-26281257 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281246-26281253 chr12:26281245-26281253 chr12:26281239-26281260
25	NFIC	chr12:26281034-26281632	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr12:26281073-26281532	SK-N-SH	brain:	n/a	n/a
27	RFX5	chr12:26281081-26281425	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:26279728..26281468-chr12:26283213..26285101,2	MCF-7	breast:

Variant related genes	Relation type
BHLHE41	TF binding region
ENSG00000256894	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10431216	0.81[ASN][1000 genomes]
rs1466467	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3809139	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55678992	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61915714	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61915715	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61915716	1.00[ASN][1000 genomes]
rs61915717	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898932	chr12:26262137-26283482	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv898933	chr12:26262137-26285006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26279800-26281600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:26280000-26281400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:26280000-26281400	Enhancers	NHEK	skin
4	chr12:26280000-26281600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:26280000-26281600	Enhancers	HMEC	breast
6	chr12:26280000-26281800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:26280000-26282800	Enhancers	NHDF-Ad	bronchial
8	chr12:26280000-26287800	Weak transcription	Aorta	Aorta
9	chr12:26280400-26286800	Weak transcription	Brain Substantia Nigra	brain
10	chr12:26280600-26287800	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:26280600-26290200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:26281000-26281400	Enhancers	HSMMtube	muscle
13	chr12:26281200-26281400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:26281200-26282800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr12:26281200-26286600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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