Variant report

Variant	rs2764112
Chromosome Location	chr6:5049582-5049583
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:5047614..5050454-chr6:5055384..5057231,2	K562	blood:
2	chr6:5023225..5025440-chr6:5048113..5049732,2	MCF-7	breast:
3	chr6:5041855..5045145-chr6:5046527..5050551,4	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11759046	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1417656	0.82[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749154	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749161	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749165	0.85[EUR][1000 genomes]
rs1771865	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771866	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771867	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1771871	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886567	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326574	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764102	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764103	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764104	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764105	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764106	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764107	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764108	0.83[EUR][1000 genomes]
rs2764109	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764114	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764115	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764116	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764120	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764121	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764123	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764124	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764125	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764126	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764127	1.00[ASN][1000 genomes]
rs2764129	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764130	1.00[ASN][1000 genomes]
rs2764132	0.85[EUR][1000 genomes]
rs2764134	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764135	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764137	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764138	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764139	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764141	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764142	1.00[ASN][1000 genomes]
rs2764143	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764145	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764148	0.86[EUR][1000 genomes]
rs2764149	1.00[CEU][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764151	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764152	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764166	1.00[ASN][1000 genomes]
rs2764169	1.00[ASN][1000 genomes]
rs2764185	1.00[ASN][1000 genomes]
rs2764186	0.85[EUR][1000 genomes]
rs2764191	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764192	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793240	0.85[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793241	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793242	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793245	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793247	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793249	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793250	1.00[ASN][1000 genomes]
rs2793251	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2985675	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2994694	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34471690	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4960056	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385141	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6905084	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912320	1.00[ASN][1000 genomes]
rs795809	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs795810	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808734	0.85[MEX][hapmap]
rs912709	0.82[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912710	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912711	0.85[CEU][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs947153	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9502260	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1017380	chr6:5007870-5152551	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2764112	CAGE1	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5037000-5050800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:5048600-5049600	ZNF genes & repeats	Aorta	Aorta
3	chr6:5049400-5049800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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