Variant report

Variant	rs12602007
Chromosome Location	chr17:67184909-67184910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10491178	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11656320	0.85[EUR][1000 genomes]
rs12103556	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12601012	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12602766	0.85[EUR][1000 genomes]
rs12602816	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602962	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12604047	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12938420	0.84[EUR][1000 genomes]
rs12945932	0.85[EUR][1000 genomes]
rs12948410	0.85[EUR][1000 genomes]
rs1468514	0.85[EUR][1000 genomes]
rs16973656	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16973672	0.89[ASN][1000 genomes]
rs16973722	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973774	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860120	0.85[EUR][1000 genomes]
rs1968099	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2233767	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2233768	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286419	0.84[EUR][1000 genomes]
rs2302289	0.84[EUR][1000 genomes]
rs2886048	0.85[EUR][1000 genomes]
rs35991088	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36145749	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3891333	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41496448	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968786	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968787	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968837	0.83[EUR][1000 genomes]
rs4968844	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4968853	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4968996	0.84[EUR][1000 genomes]
rs55821831	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57736258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58452744	0.83[EUR][1000 genomes]
rs58761646	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502002	0.84[EUR][1000 genomes]
rs6502005	0.82[EUR][1000 genomes]
rs7209351	0.85[EUR][1000 genomes]
rs7212506	0.82[EUR][1000 genomes]
rs7212963	0.85[EUR][1000 genomes]
rs73356149	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs736528	0.85[EUR][1000 genomes]
rs7501583	0.85[EUR][1000 genomes]
rs7501929	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs764178	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8065842	0.88[EUR][1000 genomes]
rs8067965	0.88[EUR][1000 genomes]
rs8068468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8080508	0.88[EUR][1000 genomes]
rs8081118	0.88[EUR][1000 genomes]
rs8082114	0.84[EUR][1000 genomes]
rs9282553	0.85[EUR][1000 genomes]
rs9282554	0.83[EUR][1000 genomes]
rs9282555	0.83[EUR][1000 genomes]
rs9889289	0.85[EUR][1000 genomes]
rs9896308	0.85[EUR][1000 genomes]
rs9904389	0.83[EUR][1000 genomes]
rs9905622	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv575930	chr17:67120025-67212031	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457888	chr17:67149973-67226643	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv575931	chr17:67149973-67226643	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv575933	chr17:67153386-67215712	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
2	chr17:67148800-67190200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr17:67150800-67192400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr17:67150800-67193200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr17:67160600-67220000	Weak transcription	Fetal Lung	lung
6	chr17:67172400-67191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:67173200-67193000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:67173400-67230000	Weak transcription	Pancreas	Pancrea
9	chr17:67176000-67190600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr17:67176600-67193400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:67177800-67192000	Weak transcription	Fetal Intestine Large	intestine
12	chr17:67178400-67186200	Weak transcription	Liver	Liver
13	chr17:67179800-67188600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:67180600-67209000	Weak transcription	Ovary	ovary
15	chr17:67182600-67186600	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:67184400-67187400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:67184600-67185000	Enhancers	Fetal Brain Female	brain
18	chr17:67184600-67189800	Strong transcription	Adipose Nuclei	Adipose
19	chr17:67184600-67192200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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