Variant report

Variant	rs4073201
Chromosome Location	chr10:50348719-50348720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50345704..50347282-chr10:50347596..50350389,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10218854	0.82[CHB][hapmap]
rs11100995	0.96[ASN][1000 genomes]
rs11101001	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs11592541	0.83[CEU][hapmap];0.95[EUR][1000 genomes]
rs11592975	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594275	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594452	0.96[ASN][1000 genomes]
rs11597087	0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs11597983	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11598768	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243520	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782866	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1806681	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2246796	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2377981	0.96[ASN][1000 genomes]
rs2377982	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2377983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377984	0.96[ASN][1000 genomes]
rs3750744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073200	0.96[ASN][1000 genomes]
rs4073202	0.96[ASN][1000 genomes]
rs41306832	0.96[ASN][1000 genomes]
rs4272720	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4284329	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4417190	0.95[YRI][hapmap]
rs4838364	0.82[CHB][hapmap]
rs4838445	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs4838455	0.96[ASN][1000 genomes]
rs4838458	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4838464	0.86[ASN][1000 genomes]
rs55687538	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55783415	0.93[ASN][1000 genomes]
rs55890352	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364323	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737365	0.96[ASN][1000 genomes]
rs57286767	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59728475	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060205	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537495	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs7080670	0.82[CHB][hapmap]
rs7081097	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088006	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7094220	0.82[CHB][hapmap]
rs7094501	0.96[ASN][1000 genomes]
rs7096516	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs7097375	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73302715	0.96[ASN][1000 genomes]
rs73302716	0.96[ASN][1000 genomes]
rs73302780	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73302786	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304754	0.92[EUR][1000 genomes]
rs7895212	0.93[ASN][1000 genomes]
rs7924204	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.96[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4073201	EBNA1BP2	trans	parietal	SCAN
rs4073201	MSMB	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
2	chr10:50343000-50357800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:50344200-50352200	Weak transcription	Fetal Thymus	thymus
4	chr10:50345600-50349600	Enhancers	Fetal Muscle Leg	muscle
5	chr10:50345800-50349000	Enhancers	Fetal Stomach	stomach
6	chr10:50345800-50349200	Enhancers	Fetal Muscle Trunk	muscle
7	chr10:50346200-50349000	Enhancers	Adipose Nuclei	Adipose
8	chr10:50346200-50349800	Enhancers	NHLF	lung
9	chr10:50346200-50354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:50346400-50349600	Enhancers	Ovary	ovary
11	chr10:50346600-50348800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:50346600-50349600	Enhancers	HSMMtube	muscle
13	chr10:50346600-50350600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr10:50346800-50348800	Enhancers	Right Atrium	heart
15	chr10:50346800-50349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr10:50346800-50349000	Enhancers	Left Ventricle	heart
17	chr10:50346800-50349000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr10:50346800-50349200	Enhancers	Placenta	Placenta
19	chr10:50346800-50351800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr10:50347000-50348800	Enhancers	Colonic Mucosa	Colon
21	chr10:50347000-50349000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:50347000-50349000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr10:50347000-50349800	Enhancers	K562	blood
24	chr10:50347600-50349000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr10:50347600-50349000	Enhancers	Right Ventricle	heart
26	chr10:50347800-50349000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr10:50347800-50349400	Enhancers	Osteobl	bone
28	chr10:50347800-50349800	Enhancers	NH-A	brain
29	chr10:50347800-50351200	Enhancers	NHDF-Ad	bronchial
30	chr10:50348000-50348800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:50348000-50349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:50348000-50349800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr10:50348000-50351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:50348000-50352200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr10:50348400-50349000	Enhancers	Spleen	Spleen
36	chr10:50348600-50348800	Flanking Active TSS	HSMM	muscle
37	chr10:50348600-50349000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:50348600-50349000	Enhancers	Stomach Smooth Muscle	stomach
39	chr10:50348600-50349400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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