Variant report

Variant	rs3749800
Chromosome Location	chr5:167181066-167181067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1023629	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12187148	0.93[CHB][hapmap]
rs12519097	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17069080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17069140	0.94[AMR][1000 genomes]
rs17069150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2337015	0.82[JPT][hapmap]
rs56844394	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60893801	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6555767	0.82[JPT][hapmap]
rs6873862	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs719254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73801366	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167171000-167181200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr5:167171600-167181800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:167178200-167181800	Weak transcription	HSMMtube	muscle
4	chr5:167178200-167182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:167178600-167182000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:167178600-167186200	Weak transcription	Osteobl	bone
7	chr5:167178800-167181400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:167178800-167181400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:167179000-167182000	Weak transcription	HSMM	muscle
10	chr5:167179200-167181200	Weak transcription	Fetal Kidney	kidney
11	chr5:167179800-167181200	Enhancers	NHEK	skin
12	chr5:167180000-167181400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:167180000-167181800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:167180400-167181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:167180400-167185200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr5:167180800-167181800	Enhancers	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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