Variant report

Variant	rs712660
Chromosome Location	chr5:111269148-111269149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10045865	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10059738	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10063079	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10463623	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs10463624	0.90[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs11241145	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11241146	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs12187912	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12187919	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13160727	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13169766	0.86[ASN][1000 genomes]
rs13188104	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1493453	0.96[ASN][1000 genomes]
rs1493457	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1494585	0.97[ASN][1000 genomes]
rs1507846	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1603081	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1994871	0.88[EUR][1000 genomes]
rs2017552	0.85[EUR][1000 genomes]
rs2047070	0.95[CHB][hapmap];0.88[JPT][hapmap];0.94[ASN][1000 genomes]
rs2048155	0.90[CHB][hapmap];0.80[JPT][hapmap];0.95[ASN][1000 genomes]
rs255910	0.82[ASN][1000 genomes]
rs255928	0.87[ASN][1000 genomes]
rs255929	0.84[ASN][1000 genomes]
rs255930	0.82[ASN][1000 genomes]
rs25791	0.86[EUR][1000 genomes]
rs25795	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs26539	0.88[ASN][1000 genomes]
rs26540	0.87[ASN][1000 genomes]
rs26541	0.88[ASN][1000 genomes]
rs26542	0.88[ASN][1000 genomes]
rs26543	0.91[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs26545	0.95[ASN][1000 genomes]
rs26557	0.84[ASN][1000 genomes]
rs26558	0.84[ASN][1000 genomes]
rs26559	0.86[ASN][1000 genomes]
rs26560	0.86[ASN][1000 genomes]
rs26561	0.87[ASN][1000 genomes]
rs26562	0.87[ASN][1000 genomes]
rs26563	0.87[ASN][1000 genomes]
rs27535	0.88[ASN][1000 genomes]
rs34924	0.91[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs34928	0.95[ASN][1000 genomes]
rs34930	0.95[ASN][1000 genomes]
rs34931	0.95[ASN][1000 genomes]
rs34941	0.84[ASN][1000 genomes]
rs34942	0.91[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs34942854	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35303575	0.96[ASN][1000 genomes]
rs35658682	0.97[ASN][1000 genomes]
rs36061964	0.91[ASN][1000 genomes]
rs36069145	0.91[ASN][1000 genomes]
rs36133922	0.96[ASN][1000 genomes]
rs41142	0.87[ASN][1000 genomes]
rs42308	0.95[ASN][1000 genomes]
rs474807	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs490983	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491101	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4957626	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4957989	0.80[EUR][1000 genomes]
rs4957992	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4957993	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4957996	0.87[EUR][1000 genomes]
rs504582	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs508089	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586262	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs593236	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs624694	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6878696	0.87[EUR][1000 genomes]
rs6881837	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6882073	0.94[ASN][1000 genomes]
rs6882205	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6890246	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6898198	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7709592	0.84[EUR][1000 genomes]
rs7710690	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7712177	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7712346	0.84[EUR][1000 genomes]
rs7716521	0.96[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7730997	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7735316	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9326846	0.95[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs980888	0.96[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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111262400-111269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:111262400-111269400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:111262400-111269400	Enhancers	NHDF-Ad	bronchial
4	chr5:111262600-111269400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:111263000-111269200	Enhancers	HSMM	muscle
6	chr5:111265200-111270400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:111265600-111270000	Enhancers	Fetal Heart	heart
8	chr5:111265800-111269600	Weak transcription	Aorta	Aorta
9	chr5:111267200-111278600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:111268400-111269200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:111268400-111269200	Enhancers	Stomach Smooth Muscle	stomach
12	chr5:111268400-111269400	Enhancers	Rectal Smooth Muscle	rectum
13	chr5:111268600-111269800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:111268800-111269400	Enhancers	HSMMtube	muscle
15	chr5:111268800-111269600	Enhancers	Osteobl	bone
16	chr5:111268800-111271000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:111268800-111271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:111268800-111271600	Weak transcription	NHEK	skin
19	chr5:111269000-111270000	Weak transcription	Right Ventricle	heart
20	chr5:111269000-111271400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:111269000-111271600	Weak transcription	NHLF	lung
22	chr5:111269000-111272800	Weak transcription	NH-A	brain
23	chr5:111269000-111278000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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