Variant report

Variant	rs4073200
Chromosome Location	chr10:50348805-50348806
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: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11100995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11592975	0.96[ASN][1000 genomes]
rs11594275	0.96[ASN][1000 genomes]
rs11594452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597983	1.00[ASN][1000 genomes]
rs11598768	0.96[ASN][1000 genomes]
rs12240840	0.93[EUR][1000 genomes]
rs12243520	0.96[ASN][1000 genomes]
rs17782866	0.96[ASN][1000 genomes]
rs1806681	0.83[ASN][1000 genomes]
rs2246796	0.86[ASN][1000 genomes]
rs2377981	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377983	0.96[ASN][1000 genomes]
rs2377984	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3750744	0.96[ASN][1000 genomes]
rs4073201	0.96[ASN][1000 genomes]
rs4073202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41306832	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272720	0.86[ASN][1000 genomes]
rs4284329	1.00[ASN][1000 genomes]
rs4345884	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4603218	1.00[EUR][1000 genomes]
rs4838449	0.99[EUR][1000 genomes]
rs4838453	0.83[EUR][1000 genomes]
rs4838455	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838456	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4838458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838460	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4838464	0.83[ASN][1000 genomes]
rs55687538	0.96[ASN][1000 genomes]
rs55783415	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55890352	0.96[ASN][1000 genomes]
rs56235933	0.97[EUR][1000 genomes]
rs56364323	0.96[ASN][1000 genomes]
rs56737365	0.93[ASN][1000 genomes]
rs57286767	0.96[ASN][1000 genomes]
rs59728475	0.96[ASN][1000 genomes]
rs61060205	0.96[ASN][1000 genomes]
rs61848451	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7081097	0.96[ASN][1000 genomes]
rs7088006	1.00[ASN][1000 genomes]
rs7094501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097375	0.96[ASN][1000 genomes]
rs73302715	0.93[ASN][1000 genomes]
rs73302716	0.93[ASN][1000 genomes]
rs73302780	1.00[ASN][1000 genomes]
rs73302786	0.96[ASN][1000 genomes]
rs7895212	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7924204	0.96[ASN][1000 genomes]
rs9665275	0.91[EUR][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

No data

Chromatin state (count:36 , 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	chr10:50346600-50349600	Enhancers	HSMMtube	muscle
12	chr10:50346600-50350600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr10:50346800-50349000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr10:50346800-50349000	Enhancers	Left Ventricle	heart
15	chr10:50346800-50349000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:50346800-50349200	Enhancers	Placenta	Placenta
17	chr10:50346800-50351800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr10:50347000-50349000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:50347000-50349000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:50347000-50349800	Enhancers	K562	blood
21	chr10:50347600-50349000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:50347600-50349000	Enhancers	Right Ventricle	heart
23	chr10:50347800-50349000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr10:50347800-50349400	Enhancers	Osteobl	bone
25	chr10:50347800-50349800	Enhancers	NH-A	brain
26	chr10:50347800-50351200	Enhancers	NHDF-Ad	bronchial
27	chr10:50348000-50349600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr10:50348000-50349800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:50348000-50351200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr10:50348000-50352200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr10:50348400-50349000	Enhancers	Spleen	Spleen
32	chr10:50348600-50349000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr10:50348600-50349000	Enhancers	Stomach Smooth Muscle	stomach
34	chr10:50348600-50349400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr10:50348800-50349600	Enhancers	HSMM	muscle
36	chr10:50348800-50352200	Weak transcription	Right Atrium	heart

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