Variant report

Variant	rs34838432
Chromosome Location	chr1:192873559-192873560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1231726	0.88[EUR][1000 genomes]
rs1231727	0.80[EUR][1000 genomes]
rs1231728	0.88[EUR][1000 genomes]
rs1231729	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231730	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231731	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231732	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231733	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231734	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231735	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1231736	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1231737	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1231738	0.88[EUR][1000 genomes]
rs1231739	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1231740	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1231741	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1231742	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1231746	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231747	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231749	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231750	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1231751	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231754	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1231757	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1231758	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1231759	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1231760	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1231762	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1231763	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231764	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231765	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1231766	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1234722	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1234723	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12733094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12756049	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756435	0.84[AMR][1000 genomes]
rs12756953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12757265	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758285	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12758449	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1535034	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1620819	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623376	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16834948	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1737981	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17524307	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17524545	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17590238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473740	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2473744	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2473745	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487284	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2487286	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2487288	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2746068	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797395	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34120198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34424396	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34562719	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34732347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34867585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35040499	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35471066	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35845034	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35879519	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35997646	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36005848	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4098556	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332340	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4451535	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58739396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60382150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60756700	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6692203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710144	0.87[EUR][1000 genomes]
rs710145	0.86[EUR][1000 genomes]
rs710146	0.86[EUR][1000 genomes]
rs842922	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs842923	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs859890	0.80[EUR][1000 genomes]
rs863604	0.88[EUR][1000 genomes]
rs949982	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192870800-192873600	Enhancers	HSMMtube	muscle
2	chr1:192871000-192873600	Weak transcription	Aorta	Aorta
3	chr1:192871200-192873600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:192871200-192873600	Weak transcription	NHEK	skin
5	chr1:192871400-192873600	Enhancers	Rectal Smooth Muscle	rectum
6	chr1:192871800-192873600	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:192871800-192875000	Weak transcription	Pancreas	Pancrea
8	chr1:192872200-192873600	Enhancers	HSMM	muscle
9	chr1:192872200-192874400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:192872600-192873600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:192872600-192873600	Weak transcription	Ovary	ovary
12	chr1:192873400-192873600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:192873400-192873600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:192873400-192873600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:192873400-192873600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:192873400-192873600	Enhancers	NH-A	brain
17	chr1:192873400-192873800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:192873400-192873800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:192873400-192873800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:192873400-192873800	Flanking Active TSS	A549	lung
21	chr1:192873400-192874000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:192873400-192874000	Flanking Active TSS	Osteobl	bone
23	chr1:192873400-192874400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:192873400-192874400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:192873400-192874400	Enhancers	HMEC	breast
26	chr1:192873400-192874800	Enhancers	Hela-S3	cervix
27	chr1:192873400-192878400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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