Variant report

Variant	rs12634319
Chromosome Location	chr3:161129711-161129712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12631095	0.86[JPT][hapmap]
rs12632537	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12632686	1.00[JPT][hapmap]
rs12634006	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12634781	0.86[JPT][hapmap]
rs16832203	0.96[EUR][1000 genomes]
rs462514	0.88[JPT][hapmap]
rs57175632	0.82[ASN][1000 genomes]
rs57278490	0.87[EUR][1000 genomes]
rs57496534	0.87[EUR][1000 genomes]
rs57803909	0.87[EUR][1000 genomes]
rs58350275	0.87[EUR][1000 genomes]
rs58550445	0.82[AFR][1000 genomes]
rs58557417	0.80[EUR][1000 genomes]
rs58562874	0.87[EUR][1000 genomes]
rs59541314	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59761692	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59964190	0.87[EUR][1000 genomes]
rs60172527	0.82[ASN][1000 genomes]
rs60400555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60612225	0.87[EUR][1000 genomes]
rs60684226	0.87[EUR][1000 genomes]
rs61048679	1.00[AMR][1000 genomes]
rs61217744	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6788738	1.00[CEU][hapmap]
rs73021435	0.82[ASN][1000 genomes]
rs73878307	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73878308	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73878311	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73878313	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73878321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73878322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73878324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73878325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73878328	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625217	0.87[EUR][1000 genomes]
rs873183	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs896080	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	98 gene(s)	inside rSNPs	diseases
2	nsv533237	chr3:161019834-161804660	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	91 gene(s)	inside rSNPs	diseases
3	nsv829772	chr3:161047817-161202554	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv877710	chr3:161087857-161245414	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 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	chr3:161123200-161132000	Enhancers	Stomach Mucosa	stomach
2	chr3:161124000-161133400	Weak transcription	Fetal Lung	lung
3	chr3:161124800-161131000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:161124800-161131000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:161125600-161137000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:161126200-161131000	Weak transcription	Gastric	stomach
7	chr3:161127600-161131000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:161128000-161131600	Weak transcription	HUVEC	blood vessel
9	chr3:161128000-161133200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:161128000-161133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:161128200-161133200	Weak transcription	NHEK	skin
12	chr3:161128200-161133600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:161128200-161134000	Weak transcription	Esophagus	oesophagus
14	chr3:161129200-161130800	Enhancers	HepG2	liver
15	chr3:161129200-161131800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:161129200-161131800	Enhancers	Hela-S3	cervix
17	chr3:161129600-161131800	Enhancers	HMEC	breast
18	chr3:161129600-161133200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:161129600-161134600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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