Variant report

Variant	rs783176
Chromosome Location	chr6:161170835-161170836
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	chr6:161170784..161171753-chr6:161794646..161795782,4	MCF-7	breast:
2	chr6:161170261..161171981-chr6:161410808..161413803,2	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1084653	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1247559	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247560	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247564	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247565	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1247567	0.86[EUR][1000 genomes]
rs1271391	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1367216	0.88[EUR][1000 genomes]
rs1611873	0.81[ASN][1000 genomes]
rs1620969	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1652456	0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs1652481	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1652498	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1652501	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1740431	0.82[EUR][1000 genomes]
rs1740445	0.83[ASN][1000 genomes]
rs1740447	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1782627	0.83[ASN][1000 genomes]
rs1782628	0.82[ASN][1000 genomes]
rs1782629	0.82[ASN][1000 genomes]
rs2465835	0.95[CHB][hapmap];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2465836	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]
rs2859879	0.87[JPT][hapmap]
rs7450979	0.84[CHB][hapmap];0.88[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv522773	chr6:161152449-161170835	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv522424	chr6:161162406-161170835	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3408644	chr6:161168362-161172960	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3422389	chr6:161169062-161172160	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs783176	SLC22A2	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161140800-161175200	Strong transcription	Liver	Liver
2	chr6:161169600-161181400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:161170400-161171000	ZNF genes & repeats	Pancreas	Pancrea
4	chr6:161170800-161171800	Enhancers	GM12878-XiMat	blood
5	chr6:161170800-161174400	Weak transcription	Fetal Kidney	kidney

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