Variant report

Variant	rs4650026
Chromosome Location	chr1:70538440-70538441
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70537552..70539411-chr1:70545771..70549953,3	K562	blood:
2	chr1:70531477..70533272-chr1:70537582..70540486,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs1009125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10493469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10493470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493472	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11799572	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11810684	0.93[EUR][1000 genomes]
rs11810719	0.93[EUR][1000 genomes]
rs11810721	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs1353467	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1472351	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1576117	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590724	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131148	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131150	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131151	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131155	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17131156	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131157	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131158	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131159	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17131161	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17131166	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131170	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131177	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131178	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131186	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131189	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131190	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131191	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131196	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131201	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131202	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131204	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17131207	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs17131208	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17131209	0.93[EUR][1000 genomes]
rs17131212	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs17131214	0.83[EUR][1000 genomes]
rs17131215	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17131217	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs17131218	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17131219	0.91[EUR][1000 genomes]
rs17131220	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs17131223	1.00[CEU][hapmap]
rs17357463	0.83[CEU][hapmap]
rs2031710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2101889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2220958	0.94[EUR][1000 genomes]
rs2220959	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421317	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2421318	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2421319	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2421320	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3738119	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs3767209	0.83[CEU][hapmap]
rs3767210	0.83[CEU][hapmap]
rs3767211	0.83[CEU][hapmap]
rs4649906	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4649907	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4650017	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650018	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650019	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650022	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650027	0.93[EUR][1000 genomes]
rs4650028	0.93[EUR][1000 genomes]
rs55903530	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55919205	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55925122	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55992448	0.93[EUR][1000 genomes]
rs56013720	0.87[EUR][1000 genomes]
rs56032859	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56090839	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56108385	0.93[EUR][1000 genomes]
rs56194840	0.93[EUR][1000 genomes]
rs56245237	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56397443	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56410601	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57502803	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57977150	0.93[EUR][1000 genomes]
rs58382572	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59199273	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60383564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782629	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61782630	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61782632	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61782633	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61782637	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61782643	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61782645	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61782646	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784278	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784279	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784282	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784283	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61784284	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784289	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61784290	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784291	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61784292	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61784293	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61784297	0.81[EUR][1000 genomes]
rs61784310	0.91[EUR][1000 genomes]
rs61784313	0.91[EUR][1000 genomes]
rs6679805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6690627	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6694380	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696040	0.83[CEU][hapmap]
rs724681	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72945241	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085938	0.93[EUR][1000 genomes]
rs74085939	0.93[EUR][1000 genomes]
rs7413084	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7511650	0.91[CEU][hapmap];0.90[CHB][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7518536	1.00[CEU][hapmap]
rs7521532	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7531630	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7538198	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv461795	chr1:70475794-70551339	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546453	chr1:70475794-70551339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv461806	chr1:70494216-70566981	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546454	chr1:70494216-70566981	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70505000-70549400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:70527600-70549200	Weak transcription	Fetal Brain Male	brain
3	chr1:70535000-70541800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:70536400-70538600	Enhancers	Brain Germinal Matrix	brain
5	chr1:70536600-70538600	Enhancers	Osteobl	bone
6	chr1:70536600-70538800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:70536600-70538800	Enhancers	NHLF	lung
8	chr1:70536600-70539000	Enhancers	HSMM	muscle
9	chr1:70536600-70539200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:70536600-70539400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:70536600-70541000	Enhancers	Fetal Lung	lung
12	chr1:70536800-70538800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:70536800-70539200	Enhancers	Fetal Stomach	stomach
14	chr1:70536800-70554000	Weak transcription	Fetal Brain Female	brain
15	chr1:70537000-70538600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:70537000-70538800	Enhancers	NHDF-Ad	bronchial
17	chr1:70537200-70555800	Weak transcription	Brain Anterior Caudate	brain
18	chr1:70537400-70538800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:70537600-70538800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:70537600-70538800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:70537600-70541400	Weak transcription	Fetal Heart	heart
22	chr1:70538000-70538800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:70538200-70538600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:70538200-70539600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:70538400-70550000	Weak transcription	Brain Angular Gyrus	brain

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