Variant report

Variant	rs781234
Chromosome Location	chr2:189677920-189677921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10172458	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497682	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs11674580	1.00[ASN][1000 genomes]
rs11676244	1.00[ASN][1000 genomes]
rs11678718	1.00[ASN][1000 genomes]
rs11681365	1.00[ASN][1000 genomes]
rs11682895	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11687872	0.83[ASN][1000 genomes]
rs11693891	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695250	1.00[ASN][1000 genomes]
rs11901190	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1524377	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16830657	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs16830658	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2675399	0.81[AFR][1000 genomes]
rs2690759	0.86[AMR][1000 genomes]
rs2690762	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2708196	0.90[AMR][1000 genomes]
rs2708198	0.86[AMR][1000 genomes]
rs2708200	0.90[AMR][1000 genomes]
rs57351486	1.00[ASN][1000 genomes]
rs57832802	1.00[ASN][1000 genomes]
rs58108785	1.00[ASN][1000 genomes]
rs58210062	1.00[ASN][1000 genomes]
rs60162413	1.00[ASN][1000 genomes]
rs60307701	1.00[ASN][1000 genomes]
rs60514585	1.00[ASN][1000 genomes]
rs60602630	1.00[ASN][1000 genomes]
rs60608780	1.00[ASN][1000 genomes]
rs60916684	1.00[ASN][1000 genomes]
rs61011178	1.00[ASN][1000 genomes]
rs6726558	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745069	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs6745091	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs698573	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904665	0.84[ASN][1000 genomes]
rs72904686	0.92[ASN][1000 genomes]
rs72904689	1.00[ASN][1000 genomes]
rs72904690	1.00[ASN][1000 genomes]
rs72904691	1.00[ASN][1000 genomes]
rs72904695	1.00[ASN][1000 genomes]
rs72904696	1.00[ASN][1000 genomes]
rs72904698	1.00[ASN][1000 genomes]
rs72904701	1.00[ASN][1000 genomes]
rs72904702	1.00[ASN][1000 genomes]
rs72906605	1.00[ASN][1000 genomes]
rs72906607	1.00[ASN][1000 genomes]
rs72906616	1.00[ASN][1000 genomes]
rs72906620	1.00[ASN][1000 genomes]
rs72906631	1.00[ASN][1000 genomes]
rs72906633	1.00[ASN][1000 genomes]
rs72906638	1.00[ASN][1000 genomes]
rs72906640	1.00[ASN][1000 genomes]
rs72906664	1.00[ASN][1000 genomes]
rs72906691	1.00[ASN][1000 genomes]
rs72906692	1.00[ASN][1000 genomes]
rs72906695	1.00[ASN][1000 genomes]
rs72906698	1.00[ASN][1000 genomes]
rs7565039	1.00[ASN][1000 genomes]
rs7607418	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609094	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781236	0.90[AMR][1000 genomes]
rs781237	0.90[AMR][1000 genomes]
rs781261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs781275	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781277	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781283	1.00[YRI][hapmap]
rs781285	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs940461	0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189672800-189678400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:189673000-189678400	Enhancers	Osteobl	bone
3	chr2:189674600-189678600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:189675400-189678600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:189675600-189679200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:189675800-189678600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:189677200-189679000	Enhancers	NHDF-Ad	bronchial
8	chr2:189677400-189678400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:189677400-189679200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:189677400-189679200	Enhancers	HSMM	muscle
11	chr2:189677400-189680000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:189677600-189678800	Enhancers	NH-A	brain
13	chr2:189677600-189679000	Enhancers	NHLF	lung
14	chr2:189677800-189678200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:189677800-189679200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:189677800-189683400	Weak transcription	Placenta Amnion	Placenta Amnion

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