Variant report

Variant	rs4131751
Chromosome Location	chr12:104548613-104548614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104545972..104549947-chr12:104555023..104560302,4	K562	blood:
2	chr12:104531173..104532708-chr12:104546943..104548666,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10861168	0.86[ASN][1000 genomes]
rs11111926	0.86[ASN][1000 genomes]
rs11111941	0.84[ASN][1000 genomes]
rs11111950	0.82[ASN][1000 genomes]
rs11111953	0.82[ASN][1000 genomes]
rs11614371	0.86[ASN][1000 genomes]
rs12814060	0.86[ASN][1000 genomes]
rs2253274	1.00[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.90[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2261693	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2264841	0.84[EUR][1000 genomes]
rs2700511	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2723854	0.96[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2723866	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35724875	0.86[ASN][1000 genomes]
rs4146833	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4290308	0.92[CHB][hapmap];0.93[CHD][hapmap];0.86[ASN][1000 genomes]
rs7135603	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7297584	0.81[ASN][1000 genomes]
rs7310193	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9668106	0.86[ASN][1000 genomes]

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	esv1823607	chr12:104506318-104549541	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	n/a
2	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
3	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
4	esv1836100	chr12:104531180-104558476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv1836581	chr12:104531180-104558476	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
6	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
7	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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104533000-104560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104547600-104549000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr12:104547600-104549000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr12:104547800-104548800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:104547800-104548800	Enhancers	K562	blood
6	chr12:104547800-104549000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:104548000-104548800	Enhancers	Primary B cells from cord blood	blood
8	chr12:104548000-104548800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:104548000-104548800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:104548000-104548800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:104548000-104549000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:104548000-104549400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:104548000-104550000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:104548400-104548800	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:104548400-104548800	Enhancers	Placenta	Placenta
16	chr12:104548400-104548800	Enhancers	Gastric	stomach
17	chr12:104548400-104548800	Enhancers	Left Ventricle	heart
18	chr12:104548600-104549000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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