Variant report

Variant	rs4141137
Chromosome Location	chr12:68376203-68376204
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	EP300	chr12:68375870-68376301	SK-N-SH_RA	brain:	n/a	chr12:68376183-68376197
2	RXRA	chr12:68374892-68376398	SK-N-SH	brain:	n/a	n/a
3	TEAD4	chr12:68374783-68376454	SK-N-SH	brain:	n/a	n/a
4	EP300	chr12:68374942-68376349	SK-N-SH_RA	brain:	n/a	chr12:68376183-68376197
5	NFIC	chr12:68375637-68376392	SK-N-SH	brain:	n/a	n/a
6	JUND	chr12:68374781-68376391	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:68374899-68376364	SK-N-SH	brain:	n/a	n/a
8	NFIC	chr12:68374747-68376444	SK-N-SH	brain:	n/a	n/a
9	FOXM1	chr12:68374877-68376403	SK-N-SH	brain:	n/a	n/a
10	MAX	chr12:68375923-68376383	SK-N-SH	brain:	n/a	n/a
11	GATA3	chr12:68374816-68376495	SK-N-SH	brain:	n/a	chr12:68374904-68374920 chr12:68374908-68374917 chr12:68375660-68375668 chr12:68375936-68375943
12	YY1	chr12:68375916-68376311	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr12:68374726-68376409	SK-N-SH	brain:	n/a	chr12:68376183-68376197
14	PBX3	chr12:68374756-68376445	SK-N-SH	brain:	n/a	n/a
15	MAX	chr12:68375943-68376434	SK-N-SH	brain:	n/a	n/a
16	E2F4	chr12:68376141-68376271	MCF10A-Er-Src	breast:	n/a	chr12:68376235-68376244
17	GATA3	chr12:68374665-68376549	SK-N-SH	brain:	n/a	chr12:68374904-68374920 chr12:68374908-68374917 chr12:68375660-68375668 chr12:68375936-68375943
18	JUND	chr12:68374839-68376425	SK-N-SH	brain:	n/a	n/a
19	RAD21	chr12:68375967-68376316	SK-N-SH_RA	brain:	n/a	n/a
20	TAF1	chr12:68375997-68376269	PFSK-1	brain:	n/a	n/a
21	EP300	chr12:68374766-68376504	SK-N-SH	brain:	n/a	chr12:68376183-68376197
22	TEAD4	chr12:68374786-68376449	SK-N-SH	brain:	n/a	n/a
23	FOXM1	chr12:68374707-68376563	SK-N-SH	brain:	n/a	n/a
24	PBX3	chr12:68374817-68376361	SK-N-SH	brain:	n/a	n/a
25	FOSL2	chr12:68374813-68376431	SK-N-SH	brain:	n/a	n/a
26	GATA2	chr12:68375620-68376300	SH-SY5Y	brain:	n/a	chr12:68375660-68375668 chr12:68375936-68375943
27	TCF12	chr12:68374718-68376577	SK-N-SH	brain:	n/a	chr12:68374979-68374986
28	TCF12	chr12:68373952-68376612	SK-N-SH	brain:	n/a	chr12:68374979-68374986

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68371732..68373949-chr12:68374658..68377015,2	K562	blood:

Variant related genes	Relation type
ENSG00000256835	TF binding region
ENSG00000256835	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10784663	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10878716	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11176974	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11176982	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11176984	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11176988	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176990	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1157716	1.00[ASN][1000 genomes]
rs2079582	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4432092	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4913267	0.88[ASN][1000 genomes]
rs4913383	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4913384	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4913385	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4913387	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297625	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7299287	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68374800-68376400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:68374800-68376400	Enhancers	Osteobl	bone
3	chr12:68375000-68376400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:68375000-68376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr12:68375000-68376400	Enhancers	HMEC	breast
6	chr12:68375000-68376400	Enhancers	NHLF	lung
7	chr12:68375800-68376400	Enhancers	NH-A	brain
8	chr12:68376200-68376600	Enhancers	NHDF-Ad	bronchial
9	chr12:68376200-68377000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:68376200-68377000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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