Variant report

Variant	rs7629990
Chromosome Location	chr3:196232298-196232299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:196230868..196233512-chr3:196236802..196239351,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11185525	1.00[JPT][hapmap]
rs11185544	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11711594	0.87[ASN][1000 genomes]
rs11711952	0.92[ASN][1000 genomes]
rs11714694	0.92[ASN][1000 genomes]
rs11920455	0.89[ASN][1000 genomes]
rs12489885	0.87[ASN][1000 genomes]
rs12490276	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12494859	0.87[ASN][1000 genomes]
rs12495687	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs1355533	0.85[CHB][hapmap]
rs2086891	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2341334	0.89[ASN][1000 genomes]
rs2880030	0.82[CHB][hapmap]
rs3796129	0.82[YRI][hapmap]
rs3964310	0.92[ASN][1000 genomes]
rs4488870	0.92[ASN][1000 genomes]
rs56144237	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57365032	0.87[ASN][1000 genomes]
rs62410583	0.87[ASN][1000 genomes]
rs6583317	0.87[ASN][1000 genomes]
rs6583318	0.87[ASN][1000 genomes]
rs66588136	0.87[ASN][1000 genomes]
rs6765975	0.92[ASN][1000 genomes]
rs6775794	0.87[ASN][1000 genomes]
rs6775806	0.92[ASN][1000 genomes]
rs6778889	0.81[ASN][1000 genomes]
rs6780633	0.92[ASN][1000 genomes]
rs6780856	0.92[ASN][1000 genomes]
rs6799694	0.87[ASN][1000 genomes]
rs6803397	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803596	0.95[ASN][1000 genomes]
rs6807081	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6807097	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6810083	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73219653	0.92[ASN][1000 genomes]
rs73219654	0.92[ASN][1000 genomes]
rs73219660	0.92[ASN][1000 genomes]
rs7615547	0.92[ASN][1000 genomes]
rs7623111	0.92[ASN][1000 genomes]
rs7623224	0.86[ASN][1000 genomes]
rs9311	0.82[CHB][hapmap]
rs9681119	0.81[ASN][1000 genomes]
rs9811428	0.81[ASN][1000 genomes]
rs9813420	0.82[CHB][hapmap]
rs9814342	0.82[CHB][hapmap]
rs9818507	0.92[ASN][1000 genomes]
rs9828786	0.82[CHB][hapmap]
rs9839347	0.92[ASN][1000 genomes]
rs9840938	0.92[ASN][1000 genomes]
rs9849530	0.92[ASN][1000 genomes]
rs9854347	0.82[ASN][1000 genomes]
rs9858251	0.87[ASN][1000 genomes]
rs9870613	0.87[ASN][1000 genomes]
rs9880563	0.87[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	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	nsv469831	chr3:196071603-196235225	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv482542	chr3:196071603-196235225	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:196231000-196232800	Weak transcription	Fetal Lung	lung
2	chr3:196231000-196233600	Weak transcription	Aorta	Aorta
3	chr3:196231000-196233600	Weak transcription	Spleen	Spleen
4	chr3:196231200-196232800	Weak transcription	Primary B cells from cord blood	blood
5	chr3:196231200-196232800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:196231200-196233200	Weak transcription	Fetal Intestine Small	intestine
7	chr3:196231200-196233200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:196231200-196233800	Weak transcription	Fetal Intestine Large	intestine
9	chr3:196231200-196241800	Weak transcription	Psoas Muscle	Psoas
10	chr3:196231400-196233000	Weak transcription	Liver	Liver
11	chr3:196231400-196233200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:196231600-196232800	Weak transcription	K562	blood
13	chr3:196231600-196233800	Weak transcription	Right Ventricle	heart
14	chr3:196231800-196232800	Enhancers	HepG2	liver
15	chr3:196232200-196233400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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