Variant report

Variant	rs6799694
Chromosome Location	chr3:196264713-196264714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:196264342..196264877-chr3:196411530..196412169,2	K562	blood:
2	chr3:196264391..196267220-chr3:196685496..196688040,2	K562	blood:
3	chr20:55561159..55561809-chr3:196264225..196264877,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11185544	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[TSI][hapmap];0.95[ASN][1000 genomes]
rs11185545	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1124996	0.84[AMR][1000 genomes]
rs11706197	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11711594	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11711952	0.95[ASN][1000 genomes]
rs11714694	0.95[ASN][1000 genomes]
rs11920455	0.92[ASN][1000 genomes]
rs12489885	0.89[ASN][1000 genomes]
rs12494859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355533	0.93[CHD][hapmap];0.89[GIH][hapmap]
rs2054748	0.88[AMR][1000 genomes]
rs2054749	0.83[AMR][1000 genomes]
rs2086891	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs2137193	0.86[AMR][1000 genomes]
rs2341334	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341399	0.88[CEU][hapmap];0.93[CHD][hapmap];0.82[TSI][hapmap]
rs28479172	0.89[AMR][1000 genomes]
rs2880030	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs3964310	0.95[ASN][1000 genomes]
rs4488870	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56144237	0.92[ASN][1000 genomes]
rs57365032	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60668021	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62410583	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583317	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583318	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66588136	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765975	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6775794	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6775806	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6778889	0.93[CHD][hapmap]
rs6780633	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6780856	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6799697	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6803397	0.87[ASN][1000 genomes]
rs6803596	0.82[ASN][1000 genomes]
rs6807081	0.84[ASN][1000 genomes]
rs6807097	0.87[ASN][1000 genomes]
rs6810083	0.84[ASN][1000 genomes]
rs73219653	0.95[ASN][1000 genomes]
rs73219654	0.95[ASN][1000 genomes]
rs73219660	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7614249	0.81[ASN][1000 genomes]
rs7615547	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7619117	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7621684	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7623111	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7623224	0.89[ASN][1000 genomes]
rs7626039	0.80[AMR][1000 genomes]
rs7629990	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs7638562	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7651365	0.81[ASN][1000 genomes]
rs9311	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[AMR][1000 genomes]
rs9647413	0.89[AMR][1000 genomes]
rs9811428	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9813420	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9814342	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9817377	0.88[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9818507	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9828786	0.84[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes]
rs9839347	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9839388	1.00[CEU][hapmap]
rs9840938	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9848622	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9849530	0.95[ASN][1000 genomes]
rs9854347	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9858251	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9868492	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9870613	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880563	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv2752687	chr3:196147690-196286690	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
8	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	esv2763750	chr3:196242261-196278366	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196264000-196264800	Enhancers	Placenta	Placenta
2	chr3:196264200-196265200	Enhancers	NHEK	skin
3	chr3:196264400-196264800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:196264400-196264800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:196264400-196264800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:196264400-196264800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:196264600-196264800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:196264600-196264800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
9	chr3:196264600-196264800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:196264600-196264800	Enhancers	Hela-S3	cervix
11	chr3:196264600-196264800	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr3:196264600-196264800	Flanking Active TSS	K562	blood
13	chr3:196264600-196265200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:196264600-196265400	Enhancers	Esophagus	oesophagus

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