Variant report

Variant	rs2707991
Chromosome Location	chr3:142630254-142630255
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142624216..142625752-chr3:142627403..142630307,2	K562	blood:
2	chr3:142606508..142609757-chr3:142628436..142631445,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163710	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1036691	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1457684	0.97[EUR][1000 genomes]
rs1457685	0.83[EUR][1000 genomes]
rs1463559	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125125	0.85[EUR][1000 genomes]
rs2581619	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581626	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2581629	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581635	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2581636	0.94[EUR][1000 genomes]
rs2581637	0.95[EUR][1000 genomes]
rs2608070	0.95[EUR][1000 genomes]
rs2608075	0.83[EUR][1000 genomes]
rs2608078	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2608079	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619147	0.83[EUR][1000 genomes]
rs2707973	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2707975	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2707977	0.83[EUR][1000 genomes]
rs2707983	0.95[EUR][1000 genomes]
rs2707985	0.85[EUR][1000 genomes]
rs2707996	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2707997	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4683435	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778732	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7648216	0.95[EUR][1000 genomes]
rs893885	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9824548	0.83[EUR][1000 genomes]
rs984593	0.83[EUR][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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142624000-142631200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr3:142624200-142635000	Weak transcription	Osteobl	bone
3	chr3:142625400-142633200	Weak transcription	K562	blood
4	chr3:142628000-142632800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:142628200-142634000	Weak transcription	Placenta	Placenta
6	chr3:142628800-142631200	Enhancers	Right Atrium	heart
7	chr3:142629200-142631200	Enhancers	Ovary	ovary
8	chr3:142629600-142631800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:142629600-142635200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:142630200-142631200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:142630200-142631200	Enhancers	Left Ventricle	heart
12	chr3:142630200-142631600	Enhancers	Adipose Nuclei	Adipose

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