Variant report

Variant	rs57144931
Chromosome Location	chr2:205538050-205538051
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1016338	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10180873	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1019356	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1019357	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205296	0.80[EUR][1000 genomes]
rs1030087	0.82[EUR][1000 genomes]
rs11677461	0.80[EUR][1000 genomes]
rs11688854	0.81[EUR][1000 genomes]
rs11691772	0.80[EUR][1000 genomes]
rs11693425	0.80[EUR][1000 genomes]
rs12694008	0.81[EUR][1000 genomes]
rs12694009	0.81[EUR][1000 genomes]
rs12694010	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1549012	0.84[EUR][1000 genomes]
rs1549013	0.84[EUR][1000 genomes]
rs1549014	0.83[EUR][1000 genomes]
rs16836537	0.87[EUR][1000 genomes]
rs1861763	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032691	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052348	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2080601	0.80[EUR][1000 genomes]
rs2098461	0.80[EUR][1000 genomes]
rs2111446	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160689	0.80[EUR][1000 genomes]
rs2160690	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2216321	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2335632	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335633	0.82[EUR][1000 genomes]
rs2335634	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3856507	0.82[EUR][1000 genomes]
rs4140727	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591325	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675472	0.82[EUR][1000 genomes]
rs6435250	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6722595	0.83[EUR][1000 genomes]
rs6742535	0.83[EUR][1000 genomes]
rs6751181	0.80[EUR][1000 genomes]
rs6758329	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73059069	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7573176	0.90[EUR][1000 genomes]
rs7577059	0.83[EUR][1000 genomes]
rs7593604	0.83[EUR][1000 genomes]
rs7594540	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7600049	0.84[AMR][1000 genomes];0.90[EUR][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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr2:205520800-205542800	Weak transcription	Psoas Muscle	Psoas
2	chr2:205521000-205546200	Weak transcription	Aorta	Aorta
3	chr2:205528000-205546200	Weak transcription	Pancreas	Pancrea
4	chr2:205531000-205538200	Weak transcription	Osteobl	bone
5	chr2:205531000-205538400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:205531200-205538400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:205531200-205545200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:205531600-205539000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:205531800-205538200	Weak transcription	NHDF-Ad	bronchial
10	chr2:205532200-205539800	Enhancers	HUVEC	blood vessel
11	chr2:205534800-205538200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:205534800-205538800	Weak transcription	NHLF	lung
13	chr2:205535200-205538200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:205535200-205545200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:205535400-205542200	Weak transcription	HSMMtube	muscle
16	chr2:205535400-205545600	Weak transcription	Fetal Lung	lung
17	chr2:205535800-205538200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:205535800-205538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:205536000-205538200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:205536000-205538400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:205537400-205539800	Genic enhancers	HSMM	muscle
22	chr2:205537800-205538400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:205537800-205539200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:205538000-205538800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:205538000-205538800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:205538000-205538800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:205538000-205539200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:205538000-205539200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:205538000-205539400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:205538000-205539400	Enhancers	NHEK	skin
31	chr2:205538000-205539600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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