Variant report

Variant	rs42308
Chromosome Location	chr5:111308706-111308707
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10050950	0.82[EUR][1000 genomes]
rs10059738	0.93[ASN][1000 genomes]
rs10063079	0.92[ASN][1000 genomes]
rs10463623	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10463624	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11241146	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13169766	0.86[ASN][1000 genomes]
rs1493453	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1494585	0.98[ASN][1000 genomes]
rs2047070	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2048155	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255910	0.82[ASN][1000 genomes]
rs255928	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs255929	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs255930	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs25790	0.81[JPT][hapmap]
rs26539	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26540	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26541	0.88[ASN][1000 genomes]
rs26542	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs26543	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs26545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26546	0.82[ASN][1000 genomes]
rs26557	0.89[ASN][1000 genomes]
rs26558	0.89[ASN][1000 genomes]
rs26559	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26560	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26561	0.90[ASN][1000 genomes]
rs26562	0.90[ASN][1000 genomes]
rs26563	0.90[ASN][1000 genomes]
rs27535	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34924	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34928	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34931	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34941	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34942	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35303575	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35658682	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36061964	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36069145	0.96[ASN][1000 genomes]
rs36133922	0.91[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs41142	0.90[ASN][1000 genomes]
rs466033	0.81[JPT][hapmap]
rs474807	0.92[ASN][1000 genomes]
rs490983	0.95[ASN][1000 genomes]
rs4957627	0.82[JPT][hapmap]
rs504582	0.93[ASN][1000 genomes]
rs505575	0.80[EUR][1000 genomes]
rs508089	0.95[ASN][1000 genomes]
rs593236	0.94[ASN][1000 genomes]
rs624694	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs6881837	0.94[ASN][1000 genomes]
rs6882073	0.92[ASN][1000 genomes]
rs6882205	0.94[ASN][1000 genomes]
rs712660	0.95[ASN][1000 genomes]
rs7710690	0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7730997	0.96[ASN][1000 genomes]
rs7735316	0.95[ASN][1000 genomes]
rs9326846	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980888	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[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	chr5:111304600-111309000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr5:111304600-111309400	Weak transcription	NHLF	lung
3	chr5:111304600-111309800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:111304600-111310600	Weak transcription	Right Atrium	heart
5	chr5:111304600-111312000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:111304800-111310600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:111305000-111308800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:111305000-111309400	Weak transcription	Osteobl	bone
9	chr5:111305200-111310400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:111305200-111310600	Weak transcription	NHDF-Ad	bronchial
11	chr5:111305800-111313400	Weak transcription	Primary B cells from cord blood	blood
12	chr5:111306200-111309200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:111306400-111310600	Weak transcription	Left Ventricle	heart
14	chr5:111308200-111308800	Enhancers	Fetal Muscle Trunk	muscle
15	chr5:111308200-111309600	Weak transcription	HSMM	muscle
16	chr5:111308200-111311000	Enhancers	Fetal Muscle Leg	muscle
17	chr5:111308400-111309400	Enhancers	Fetal Intestine Large	intestine
18	chr5:111308400-111311200	Enhancers	Fetal Stomach	stomach
19	chr5:111308400-111311400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:111308400-111311400	Enhancers	Fetal Lung	lung
21	chr5:111308400-111311400	Enhancers	Rectal Smooth Muscle	rectum
22	chr5:111308600-111309000	Weak transcription	Fetal Heart	heart
23	chr5:111308600-111310000	Weak transcription	Stomach Smooth Muscle	stomach

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