Variant report

Variant	rs2391472
Chromosome Location	chr1:94737583-94737584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1054626	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11165103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165114	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12022859	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12024941	0.91[EUR][1000 genomes]
rs12027548	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12031606	0.91[EUR][1000 genomes]
rs12036085	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12038745	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039546	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042509	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12046536	1.00[YRI][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12093742	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562103	0.95[EUR][1000 genomes]
rs12563826	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1360365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576592	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1611832	0.90[EUR][1000 genomes]
rs1622451	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1623248	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1623314	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1629275	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1687947	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1687950	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17111408	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17111419	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17111426	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17111436	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1765636	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1765640	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1929131	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1999270	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1999271	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2130899	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35275815	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789690	0.88[EUR][1000 genomes]
rs4543802	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4847201	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847296	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55961421	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56037795	0.91[EUR][1000 genomes]
rs57666908	0.88[EUR][1000 genomes]
rs6541343	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6541345	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662877	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6673491	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6675959	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6681827	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66918029	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66961454	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67180557	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67554381	0.89[EUR][1000 genomes]
rs67612304	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67681803	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67807923	0.94[EUR][1000 genomes]
rs68193246	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7413345	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7415246	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7515965	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7520754	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7525320	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7533977	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7554714	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94725800-94742600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:94730800-94743600	Weak transcription	Lung	lung
3	chr1:94731600-94740200	Weak transcription	Adipose Nuclei	Adipose
4	chr1:94734200-94748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:94735200-94738400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:94735200-94738400	Enhancers	HMEC	breast
7	chr1:94735600-94737600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:94735600-94738800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:94735600-94739200	Enhancers	NH-A	brain
10	chr1:94735600-94739200	Enhancers	NHDF-Ad	bronchial
11	chr1:94735800-94738400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:94735800-94738400	Enhancers	NHLF	lung
13	chr1:94735800-94738600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:94735800-94739000	Enhancers	HSMM	muscle
15	chr1:94736400-94742400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:94736600-94737800	Weak transcription	A549	lung
17	chr1:94736800-94737800	Enhancers	NHEK	skin
18	chr1:94736800-94738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:94736800-94738200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:94736800-94738600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:94736800-94739600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:94736800-94740600	Enhancers	Osteobl	bone
23	chr1:94736800-94742400	Weak transcription	HSMMtube	muscle
24	chr1:94736800-94744800	Weak transcription	HUVEC	blood vessel
25	chr1:94737200-94738400	Enhancers	Spleen	Spleen
26	chr1:94737200-94742000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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