Variant report

Variant	rs17112980
Chromosome Location	chr1:56326165-56326166
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	chr1:56323265..56326203-chr1:56327574..56329306,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10888945	0.82[ASN][1000 genomes]
rs11576242	0.80[EUR][1000 genomes]
rs11578335	0.80[EUR][1000 genomes]
rs11578498	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11579038	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11581648	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583537	0.80[EUR][1000 genomes]
rs11586123	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587235	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11589166	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11590983	0.80[EUR][1000 genomes]
rs11800773	0.80[EUR][1000 genomes]
rs12062107	0.85[ASN][1000 genomes]
rs12081543	0.80[EUR][1000 genomes]
rs17112873	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17113009	0.95[EUR][1000 genomes]
rs17113019	0.95[EUR][1000 genomes]
rs34631693	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41285920	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4450055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4565759	0.80[EUR][1000 genomes]
rs4595404	0.95[EUR][1000 genomes]
rs56663249	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56794337	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57046577	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57145918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58221753	0.95[EUR][1000 genomes]
rs59699301	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61064012	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61497682	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6588578	0.80[EUR][1000 genomes]
rs6678002	0.84[EUR][1000 genomes]
rs74072586	0.80[EUR][1000 genomes]
rs74072587	0.80[EUR][1000 genomes]
rs7538057	0.85[AMR][1000 genomes];0.80[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	nsv829926	chr1:56188492-56360745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56322400-56333400	Weak transcription	Psoas Muscle	Psoas
2	chr1:56323200-56326200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:56324600-56327200	Enhancers	Fetal Intestine Large	intestine
4	chr1:56324600-56327600	Enhancers	Fetal Intestine Small	intestine
5	chr1:56325200-56326600	Enhancers	Fetal Stomach	stomach
6	chr1:56325400-56326600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:56325400-56326600	Enhancers	Adipose Nuclei	Adipose
8	chr1:56325400-56326600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:56325400-56327000	Enhancers	Fetal Muscle Leg	muscle
10	chr1:56325400-56327400	Enhancers	Fetal Heart	heart
11	chr1:56325400-56328400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:56325600-56326400	Weak transcription	Left Ventricle	heart
13	chr1:56325600-56326800	Enhancers	Fetal Lung	lung
14	chr1:56325600-56326800	Enhancers	NHDF-Ad	bronchial
15	chr1:56325800-56326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:56326000-56331800	Weak transcription	Placenta	Placenta
17	chr1:56326000-56342000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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