Variant report

Variant	rs56397443
Chromosome Location	chr1:70510049-70510050
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	chr1:70504669..70508313-chr1:70509431..70511799,3	K562	blood:

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1009125	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10493469	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10493470	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10493471	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10493472	0.93[EUR][1000 genomes]
rs11799572	0.93[EUR][1000 genomes]
rs11810684	0.93[EUR][1000 genomes]
rs11810719	0.93[EUR][1000 genomes]
rs11810721	0.93[EUR][1000 genomes]
rs1353467	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1472351	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1576117	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1590724	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131150	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131151	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131159	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17131161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131166	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17131170	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131177	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131178	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131182	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17131183	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131186	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131189	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131190	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17131191	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131193	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131196	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17131201	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17131202	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17131204	0.94[EUR][1000 genomes]
rs17131207	0.83[EUR][1000 genomes]
rs17131208	0.93[EUR][1000 genomes]
rs17131209	0.93[EUR][1000 genomes]
rs17131212	0.83[EUR][1000 genomes]
rs17131214	0.83[EUR][1000 genomes]
rs17131215	0.93[EUR][1000 genomes]
rs17131217	0.83[EUR][1000 genomes]
rs17131218	0.93[EUR][1000 genomes]
rs17131219	0.91[EUR][1000 genomes]
rs17131220	0.91[EUR][1000 genomes]
rs2031710	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2101889	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2220958	0.94[EUR][1000 genomes]
rs2220959	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2421317	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421318	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421319	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2421320	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3738119	0.83[EUR][1000 genomes]
rs4649906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4649907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650017	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650018	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650019	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650020	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650022	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4650026	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4650027	0.93[EUR][1000 genomes]
rs4650028	0.93[EUR][1000 genomes]
rs55903530	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55919205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55925122	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55992448	0.93[EUR][1000 genomes]
rs56013720	0.87[EUR][1000 genomes]
rs56032859	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56090839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108385	0.93[EUR][1000 genomes]
rs56194840	0.93[EUR][1000 genomes]
rs56245237	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56410601	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57502803	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57977150	0.93[EUR][1000 genomes]
rs58382572	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59199273	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60383564	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61782629	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61782630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61782632	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61782633	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61782637	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61782643	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61782645	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61782646	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61784278	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61784279	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784281	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784282	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61784283	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61784284	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784289	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61784290	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784291	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61784292	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61784293	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61784297	0.81[EUR][1000 genomes]
rs61784310	0.91[EUR][1000 genomes]
rs61784313	0.91[EUR][1000 genomes]
rs6690627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724681	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72945241	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74085938	0.93[EUR][1000 genomes]
rs74085939	0.93[EUR][1000 genomes]
rs7413084	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7511650	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7521532	0.93[EUR][1000 genomes]
rs7531630	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7538198	0.96[EUR][1000 genomes];0.93[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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70479400-70515600	Weak transcription	Fetal Brain Male	brain
2	chr1:70505000-70549400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:70505400-70512800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:70505400-70536200	Weak transcription	Fetal Brain Female	brain
5	chr1:70506000-70536400	Weak transcription	Brain Germinal Matrix	brain
6	chr1:70507000-70510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:70508200-70511400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:70508400-70510200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:70508400-70526600	Weak transcription	Brain Anterior Caudate	brain
10	chr1:70508800-70510400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:70508800-70511200	Enhancers	HSMM	muscle
12	chr1:70509200-70510200	Enhancers	HUVEC	blood vessel
13	chr1:70509200-70510800	Flanking Active TSS	Fetal Heart	heart
14	chr1:70509200-70511200	Enhancers	HMEC	breast
15	chr1:70509200-70511400	Enhancers	NHLF	lung
16	chr1:70509400-70510400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:70509400-70511200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:70509400-70511200	Enhancers	NHEK	skin
19	chr1:70509400-70511200	Enhancers	Osteobl	bone
20	chr1:70509400-70511600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:70509600-70510800	Enhancers	NH-A	brain
22	chr1:70509600-70511200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:70509600-70511200	Enhancers	Hela-S3	cervix
24	chr1:70509800-70511200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:70509800-70511200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:70510000-70510200	Weak transcription	K562	blood
27	chr1:70510000-70510400	Enhancers	NHDF-Ad	bronchial
28	chr1:70510000-70511000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:70510000-70511000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:70510000-70511000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:70510000-70511400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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