Variant report

Variant	rs16834948
Chromosome Location	chr1:192873010-192873011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs1152746	0.80[CHB][hapmap];0.87[GIH][hapmap];0.87[JPT][hapmap]
rs1231726	0.89[EUR][1000 genomes]
rs1231728	0.89[EUR][1000 genomes]
rs1231729	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1231730	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231731	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231732	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231733	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231734	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231735	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1231736	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231738	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1231746	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231747	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231749	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231750	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231754	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231757	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1231758	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1231759	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1231760	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1231762	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231763	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231764	0.93[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231765	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231766	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234722	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234723	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1237767	0.81[EUR][1000 genomes]
rs12733094	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12756049	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12756953	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12757265	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12758285	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12758449	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1535034	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1620819	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1623376	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1737981	0.85[EUR][1000 genomes]
rs17524307	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17524545	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17590238	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1890973	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2473740	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2473742	0.81[EUR][1000 genomes]
rs2473744	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2473745	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2487284	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2487286	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2487288	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2746068	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797395	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34120198	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34424396	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34562719	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34732347	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34838432	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34867585	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35040499	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35471066	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35845034	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35879519	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35997646	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36005848	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4098556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4332340	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4451535	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4658075	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58739396	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60382150	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60756700	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6686024	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6692203	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs710144	0.89[CEU][hapmap];0.80[CHB][hapmap];0.97[GIH][hapmap];0.87[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs710145	0.89[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs710146	0.89[CEU][hapmap];0.80[CHB][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs842924	0.81[EUR][1000 genomes]
rs844529	0.81[EUR][1000 genomes]
rs859888	0.81[EUR][1000 genomes]
rs863604	0.89[EUR][1000 genomes]
rs949982	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192870400-192873400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:192870800-192873400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:192870800-192873600	Enhancers	HSMMtube	muscle
4	chr1:192871000-192873400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:192871000-192873600	Weak transcription	Aorta	Aorta
6	chr1:192871200-192873600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:192871200-192873600	Weak transcription	NHEK	skin
8	chr1:192871400-192873600	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:192871600-192873400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:192871800-192873400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:192871800-192873400	Weak transcription	HMEC	breast
12	chr1:192871800-192873600	Weak transcription	Fetal Muscle Leg	muscle
13	chr1:192871800-192875000	Weak transcription	Pancreas	Pancrea
14	chr1:192872200-192873600	Enhancers	HSMM	muscle
15	chr1:192872200-192874400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr1:192872400-192873400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:192872600-192873600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:192872600-192873600	Weak transcription	Ovary	ovary
19	chr1:192873000-192873200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr1:192873000-192873400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:192873000-192873400	Weak transcription	Colon Smooth Muscle	Colon

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