Variant report

Variant	rs6593002
Chromosome Location	chr7:50620923-50620924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10268819	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499696	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575298	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575300	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575301	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575342	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11575404	1.00[ASN][1000 genomes]
rs11575429	1.00[ASN][1000 genomes]
rs11765109	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771818	0.80[EUR][1000 genomes]
rs12718611	0.82[EUR][1000 genomes]
rs1466163	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17553791	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167368	1.00[ASN][1000 genomes]
rs6952381	1.00[ASN][1000 genomes]
rs6975015	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975747	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342846	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785984	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809234	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1015758	chr7:50565404-50768153	Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1023228	chr7:50573214-50777634	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv429750	chr7:50603534-50622712	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv429751	chr7:50607353-50622712	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1032882	chr7:50611138-50775257	Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv538834	chr7:50611138-50775257	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr7:50601600-50631400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:50611000-50631800	Weak transcription	Colonic Mucosa	Colon
3	chr7:50611600-50623800	Weak transcription	Liver	Liver
4	chr7:50613000-50621600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:50619400-50624400	Genic enhancers	Fetal Intestine Small	intestine
6	chr7:50619400-50628200	Enhancers	HepG2	liver
7	chr7:50619600-50621000	Enhancers	Gastric	stomach
8	chr7:50619600-50627800	Enhancers	Fetal Intestine Large	intestine
9	chr7:50620000-50621000	Enhancers	Pancreas	Pancrea
10	chr7:50620400-50624600	Weak transcription	Fetal Lung	lung
11	chr7:50620600-50624200	Weak transcription	Stomach Mucosa	stomach
12	chr7:50620600-50625000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr7:50620800-50622400	Weak transcription	Esophagus	oesophagus
14	chr7:50620800-50635600	Weak transcription	Lung	lung

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