Variant report

Variant	rs2465836
Chromosome Location	chr6:161187044-161187045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161185948..161188243-chr6:161411812..161413951,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10455783	0.87[ASN][1000 genomes]
rs10455784	0.87[ASN][1000 genomes]
rs1084653	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11758404	0.80[ASN][1000 genomes]
rs12194271	0.89[ASN][1000 genomes]
rs12214254	0.89[ASN][1000 genomes]
rs1247559	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247560	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247564	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247565	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1247567	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247572	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12526591	0.89[ASN][1000 genomes]
rs1271391	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13203571	0.86[ASN][1000 genomes]
rs13216458	0.89[ASN][1000 genomes]
rs1344729	0.87[ASN][1000 genomes]
rs1344730	0.88[ASN][1000 genomes]
rs1344731	0.89[ASN][1000 genomes]
rs1367216	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1549741	0.89[ASN][1000 genomes]
rs1611873	0.93[ASN][1000 genomes]
rs1620969	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1652456	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1652481	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1652498	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1652501	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1740430	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1740431	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1740445	0.96[ASN][1000 genomes]
rs1740447	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1740466	0.86[EUR][1000 genomes]
rs1782627	0.96[ASN][1000 genomes]
rs1782628	0.95[ASN][1000 genomes]
rs1782629	0.95[ASN][1000 genomes]
rs1965092	0.89[ASN][1000 genomes]
rs1991598	0.89[ASN][1000 genomes]
rs1991599	0.85[ASN][1000 genomes]
rs2115869	0.88[ASN][1000 genomes]
rs2115870	0.87[ASN][1000 genomes]
rs2115871	0.87[ASN][1000 genomes]
rs2144727	0.87[ASN][1000 genomes]
rs2465835	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34797199	0.89[ASN][1000 genomes]
rs4440440	0.89[ASN][1000 genomes]
rs4708878	0.89[ASN][1000 genomes]
rs4708881	0.89[ASN][1000 genomes]
rs4708882	0.89[ASN][1000 genomes]
rs4708884	0.86[ASN][1000 genomes]
rs4708886	0.85[ASN][1000 genomes]
rs4708887	0.87[ASN][1000 genomes]
rs4708888	0.89[ASN][1000 genomes]
rs4708889	0.86[ASN][1000 genomes]
rs4708891	0.86[ASN][1000 genomes]
rs4708892	0.86[ASN][1000 genomes]
rs4708893	0.86[ASN][1000 genomes]
rs4709466	0.89[ASN][1000 genomes]
rs4709467	0.89[ASN][1000 genomes]
rs4709469	0.89[ASN][1000 genomes]
rs66496533	0.80[ASN][1000 genomes]
rs7450979	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs783176	1.00[ASW][hapmap];0.83[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9456586	0.89[ASN][1000 genomes]
rs9458023	0.92[ASN][1000 genomes]
rs9458025	0.89[ASN][1000 genomes]
rs9458026	0.89[ASN][1000 genomes]
rs9458030	0.82[ASN][1000 genomes]
rs9458031	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1019113	chr6:161127584-161197558	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv3421398	chr6:161183862-161188260	Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2465836	SLC22A2	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161171400-161187800	Weak transcription	Pancreas	Pancrea
2	chr6:161181400-161187800	Weak transcription	Gastric	stomach
3	chr6:161181600-161187800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:161185200-161187600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:161185600-161187800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:161186200-161187600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:161186400-161187600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:161187000-161188800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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