Variant report

Variant	rs1358459
Chromosome Location	chr1:103636607-103636608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 168 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10159431	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10399857	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10437029	0.85[ASN][1000 genomes]
rs10493992	0.83[ASN][1000 genomes]
rs10782923	0.83[ASN][1000 genomes]
rs10782924	0.83[ASN][1000 genomes]
rs10782925	0.83[ASN][1000 genomes]
rs10874681	0.90[ASN][1000 genomes]
rs10874682	0.90[ASN][1000 genomes]
rs10874683	0.90[ASN][1000 genomes]
rs10874684	0.90[ASN][1000 genomes]
rs10874685	0.90[ASN][1000 genomes]
rs10874686	0.85[ASN][1000 genomes]
rs10874687	0.90[ASN][1000 genomes]
rs10874688	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874694	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874695	0.88[ASN][1000 genomes]
rs10874697	0.83[ASN][1000 genomes]
rs11164673	1.00[JPT][hapmap]
rs11164676	0.90[ASN][1000 genomes]
rs11164679	0.90[ASN][1000 genomes]
rs11164683	0.90[ASN][1000 genomes]
rs11164684	0.90[ASN][1000 genomes]
rs11164690	0.90[ASN][1000 genomes]
rs11164694	0.92[ASN][1000 genomes]
rs11164706	0.95[ASN][1000 genomes]
rs11164711	0.95[ASN][1000 genomes]
rs11164715	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164716	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164717	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11164720	0.87[ASN][1000 genomes]
rs11164721	0.87[ASN][1000 genomes]
rs11164722	0.83[ASN][1000 genomes]
rs11164732	0.83[ASN][1000 genomes]
rs11802357	0.90[ASN][1000 genomes]
rs11809958	0.85[ASN][1000 genomes]
rs11810850	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12075533	1.00[ASN][1000 genomes]
rs12075811	0.87[ASN][1000 genomes]
rs12077815	0.90[ASN][1000 genomes]
rs12078066	0.85[ASN][1000 genomes]
rs12081866	0.81[ASN][1000 genomes]
rs12090752	0.86[ASN][1000 genomes]
rs12094089	0.95[ASN][1000 genomes]
rs12095253	0.83[ASN][1000 genomes]
rs12119790	0.90[ASN][1000 genomes]
rs12125839	0.90[ASN][1000 genomes]
rs12126095	0.85[ASN][1000 genomes]
rs12126147	0.90[ASN][1000 genomes]
rs12131628	0.87[ASN][1000 genomes]
rs12134283	0.90[ASN][1000 genomes]
rs12134285	0.90[ASN][1000 genomes]
rs12139369	0.90[ASN][1000 genomes]
rs12139417	0.90[ASN][1000 genomes]
rs12140409	0.95[ASN][1000 genomes]
rs12142507	0.87[ASN][1000 genomes]
rs12142969	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12143615	0.90[ASN][1000 genomes]
rs12144257	0.84[EUR][1000 genomes]
rs1337171	0.90[ASN][1000 genomes]
rs1337172	0.90[ASN][1000 genomes]
rs1337173	0.90[ASN][1000 genomes]
rs1337198	0.92[ASN][1000 genomes]
rs1337199	0.92[ASN][1000 genomes]
rs13375484	0.90[ASN][1000 genomes]
rs1406126	0.83[ASN][1000 genomes]
rs1406127	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406129	1.00[ASN][1000 genomes]
rs1528200	0.83[ASN][1000 genomes]
rs1528201	0.83[ASN][1000 genomes]
rs1528203	0.83[ASN][1000 genomes]
rs1528204	0.87[ASN][1000 genomes]
rs1538039	0.90[ASN][1000 genomes]
rs1572516	0.90[ASN][1000 genomes]
rs1572517	0.90[ASN][1000 genomes]
rs1572519	0.90[ASN][1000 genomes]
rs1572520	0.90[ASN][1000 genomes]
rs1577806	0.92[ASN][1000 genomes]
rs17127531	0.88[ASN][1000 genomes]
rs1852655	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881273	0.83[ASN][1000 genomes]
rs1918884	0.83[ASN][1000 genomes]
rs1918885	0.83[ASN][1000 genomes]
rs1918886	0.83[ASN][1000 genomes]
rs1918889	0.83[ASN][1000 genomes]
rs2178162	0.90[ASN][1000 genomes]
rs2376353	0.83[ASN][1000 genomes]
rs2889340	0.90[ASN][1000 genomes]
rs2889352	0.83[ASN][1000 genomes]
rs3850460	0.92[ASN][1000 genomes]
rs3850461	0.92[ASN][1000 genomes]
rs3850462	0.92[ASN][1000 genomes]
rs3861744	0.92[ASN][1000 genomes]
rs4098281	0.90[ASN][1000 genomes]
rs4332376	0.90[ASN][1000 genomes]
rs4338381	0.81[CHD][hapmap]
rs4360545	0.81[ASN][1000 genomes]
rs4372278	0.83[ASN][1000 genomes]
rs4372279	0.83[ASN][1000 genomes]
rs55926955	0.90[ASN][1000 genomes]
rs56335123	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56350510	0.90[ASN][1000 genomes]
rs57003205	0.90[ASN][1000 genomes]
rs59026756	0.90[ASN][1000 genomes]
rs61814977	0.90[ASN][1000 genomes]
rs61814982	0.90[ASN][1000 genomes]
rs61814997	0.87[ASN][1000 genomes]
rs61814998	0.90[ASN][1000 genomes]
rs61814999	0.90[ASN][1000 genomes]
rs61815034	0.95[ASN][1000 genomes]
rs61815035	0.95[ASN][1000 genomes]
rs61815037	0.95[ASN][1000 genomes]
rs61815038	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61815057	0.83[ASN][1000 genomes]
rs6577358	0.90[ASN][1000 genomes]
rs6577361	0.92[ASN][1000 genomes]
rs6577362	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6577363	0.92[ASN][1000 genomes]
rs6577365	0.83[ASN][1000 genomes]
rs6656514	0.83[ASN][1000 genomes]
rs6657840	1.00[ASN][1000 genomes]
rs6658609	0.90[ASN][1000 genomes]
rs6658707	0.90[ASN][1000 genomes]
rs6660886	0.95[ASN][1000 genomes]
rs6665601	1.00[ASN][1000 genomes]
rs6667190	0.83[ASN][1000 genomes]
rs6667824	0.83[ASN][1000 genomes]
rs6670423	0.83[ASN][1000 genomes]
rs6670472	0.95[ASN][1000 genomes]
rs6670951	0.95[ASN][1000 genomes]
rs6673525	0.90[ASN][1000 genomes]
rs6674625	0.95[ASN][1000 genomes]
rs6675440	0.92[ASN][1000 genomes]
rs6678780	0.90[ASN][1000 genomes]
rs6681533	0.90[ASN][1000 genomes]
rs6699034	0.90[ASN][1000 genomes]
rs6701783	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703986	0.95[ASN][1000 genomes]
rs6704272	0.90[ASN][1000 genomes]
rs7411801	0.90[ASN][1000 genomes]
rs7418839	0.83[ASN][1000 genomes]
rs7515978	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7517870	0.82[ASN][1000 genomes]
rs7518542	0.92[ASN][1000 genomes]
rs7519151	0.92[ASN][1000 genomes]
rs7520070	0.82[ASN][1000 genomes]
rs7523058	0.87[ASN][1000 genomes]
rs7524445	0.95[ASN][1000 genomes]
rs7526605	0.95[ASN][1000 genomes]
rs7534313	0.90[ASN][1000 genomes]
rs7534696	0.82[ASN][1000 genomes]
rs7544745	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7550030	0.88[ASN][1000 genomes]
rs7555795	0.95[ASN][1000 genomes]
rs872317	0.92[ASN][1000 genomes]
rs954565	0.83[ASN][1000 genomes]
rs954566	0.83[ASN][1000 genomes]
rs9651143	0.90[ASN][1000 genomes]
rs9651144	0.90[ASN][1000 genomes]
rs9651151	0.90[ASN][1000 genomes]
rs9662902	0.90[ASN][1000 genomes]
rs9663072	0.90[ASN][1000 genomes]
rs9943066	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2830089	chr1:103615938-103670474	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv526337	chr1:103636607-103704266	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1358459	HIAT1	cis	cerebellum	SCAN
rs1358459	DBT	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103636400-103636800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:103636400-103637000	Enhancers	HSMM	muscle
3	chr1:103636400-103637000	Enhancers	HSMMtube	muscle
4	chr1:103636400-103637200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:103636400-103637200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:103636400-103637600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:103636400-103637600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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