Variant report

Variant	rs6441198
Chromosome Location	chr3:158161499-158161500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10936129	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10936146	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11714821	0.83[ASN][1000 genomes]
rs11714869	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11717725	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11719188	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12107103	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12107104	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12494098	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12496767	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12629125	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12629587	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12631196	0.89[ASN][1000 genomes]
rs12632998	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12633594	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12638169	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1369562	0.82[ASN][1000 genomes]
rs1595030	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1978779	0.80[ASN][1000 genomes]
rs2176893	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2222326	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2362965	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2362968	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2362969	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2362970	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2362972	0.98[ASN][1000 genomes]
rs28578723	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28813180	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28820925	0.93[ASN][1000 genomes]
rs3845981	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4289388	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4309677	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4431160	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4510417	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4561872	0.87[ASN][1000 genomes]
rs4679828	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4680426	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4680431	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4680433	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4680434	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4680436	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4680437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56387731	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57519456	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60336101	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6414388	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6414390	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6441188	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6441195	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6441197	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6441200	0.95[ASN][1000 genomes]
rs6441201	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6441203	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6441204	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs67385174	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6767008	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6772237	0.80[EUR][1000 genomes]
rs6772340	0.94[EUR][1000 genomes]
rs6773939	0.81[EUR][1000 genomes]
rs67761009	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6778202	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6780896	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6783284	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6785063	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6787172	0.82[ASN][1000 genomes]
rs6788703	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6797629	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6800887	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6806702	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73170315	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73170348	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7426603	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7430565	0.93[ASN][1000 genomes]
rs7610691	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7610713	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7614259	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7632059	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7639867	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7641954	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648196	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7649463	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs939117	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9809952	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9810345	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9812624	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs9823076	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9827781	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9835244	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9843089	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9847045	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9847316	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9847460	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9850856	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9867152	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9867617	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9870802	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9872089	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9872889	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9877909	0.94[ASN][1000 genomes]
rs9879545	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9881630	0.87[AMR][1000 genomes];0.94[EUR][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	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014381	chr3:158070451-158350118	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv967206	chr3:158149860-158176292	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6441198	RSRC1	Cis_1M	lymphoblastoid	RTeQTL
rs6441198	RSRC1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158145600-158164600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:158156400-158176200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:158159600-158163200	Weak transcription	Left Ventricle	heart
4	chr3:158161000-158161800	Enhancers	GM12878-XiMat	blood
5	chr3:158161400-158161800	Enhancers	Colonic Mucosa	Colon

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