Variant report

Variant	rs2640001
Chromosome Location	chr3:141376039-141376040
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	chr3:141367784..141370047-chr3:141375243..141376889,2	K562	blood:
2	chr3:141364533..141367449-chr3:141374437..141376349,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12632759	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13088397	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1400685	0.94[ASN][1000 genomes]
rs1532247	0.94[ASN][1000 genomes]
rs1994845	0.95[ASN][1000 genomes]
rs2030186	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2030187	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2640015	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2640019	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs295294	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs295296	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs295314	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295315	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295317	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34319548	0.83[AMR][1000 genomes]
rs34867571	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4467426	0.95[ASN][1000 genomes]
rs4634089	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683407	0.95[ASN][1000 genomes]
rs4683615	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4683616	0.95[ASN][1000 genomes]
rs59312699	0.92[ASN][1000 genomes]
rs6440024	0.95[ASN][1000 genomes]
rs6440025	0.95[ASN][1000 genomes]
rs6774986	0.95[ASN][1000 genomes]
rs6784270	0.87[ASN][1000 genomes]
rs6784413	0.95[ASN][1000 genomes]
rs6784623	0.95[ASN][1000 genomes]
rs6791890	0.96[ASN][1000 genomes]
rs6805124	0.95[ASN][1000 genomes]
rs7618625	0.95[ASN][1000 genomes]
rs7627285	0.95[ASN][1000 genomes]
rs7639695	0.94[ASN][1000 genomes]
rs7642620	0.95[ASN][1000 genomes]
rs7650428	0.91[ASN][1000 genomes]
rs7653258	0.93[ASN][1000 genomes]
rs868767	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs868768	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9289635	0.95[ASN][1000 genomes]
rs9289636	0.95[ASN][1000 genomes]
rs9289637	0.95[ASN][1000 genomes]
rs9812758	0.89[ASN][1000 genomes]
rs9841650	0.96[ASN][1000 genomes]
rs9841805	0.95[ASN][1000 genomes]
rs9861838	0.96[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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv524429	chr3:141372391-141377330	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141364400-141377600	Weak transcription	Aorta	Aorta
2	chr3:141374200-141376200	Enhancers	K562	blood
3	chr3:141374400-141376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:141374400-141376400	Enhancers	NHDF-Ad	bronchial
5	chr3:141375000-141376200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:141375000-141376200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:141375000-141376400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:141375000-141376400	Enhancers	Colon Smooth Muscle	Colon
9	chr3:141375200-141376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:141375200-141376800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:141375400-141376200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:141375800-141376800	ZNF genes & repeats	Liver	Liver
13	chr3:141376000-141376200	Enhancers	HMEC	breast
14	chr3:141376000-141376200	Bivalent Enhancer	NHEK	skin
15	chr3:141376000-141376400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr3:141376000-141376400	Enhancers	Placenta	Placenta
17	chr3:141376000-141377200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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