Variant report

Variant	rs17146647
Chromosome Location	chr5:119791039-119791040
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10477601	0.83[ASN][1000 genomes]
rs10478465	0.83[ASN][1000 genomes]
rs12523269	1.00[CHB][hapmap]
rs13171079	0.83[ASN][1000 genomes]
rs13171094	0.83[ASN][1000 genomes]
rs1404300	1.00[CHB][hapmap]
rs17146640	1.00[ASN][1000 genomes]
rs17146651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146672	0.83[ASN][1000 genomes]
rs17146710	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17510029	0.91[ASN][1000 genomes]
rs1902147	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2601208	1.00[JPT][hapmap]
rs2601210	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2601211	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2604163	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2655067	1.00[JPT][hapmap]
rs2655069	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41357149	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4895261	1.00[JPT][hapmap]
rs6595236	1.00[CHB][hapmap]
rs6868829	0.86[AFR][1000 genomes]
rs6883068	1.00[JPT][hapmap]
rs7710928	1.00[CHB][hapmap]
rs7733602	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr5:119783000-119793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:119786200-119793600	Weak transcription	Right Ventricle	heart
3	chr5:119786200-119793800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:119787000-119798200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119787400-119793000	Weak transcription	Pancreas	Pancrea
6	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
7	chr5:119788800-119794000	Enhancers	Fetal Heart	heart
8	chr5:119789200-119791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:119789200-119791200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr5:119790400-119793600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:119790400-119793600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:119790400-119793600	Weak transcription	Aorta	Aorta
13	chr5:119790400-119793800	Weak transcription	Adipose Nuclei	Adipose
14	chr5:119790400-119793800	Weak transcription	Fetal Kidney	kidney
15	chr5:119790400-119799600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:119790600-119791200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:119790600-119791200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr5:119790600-119791200	Enhancers	NHDF-Ad	bronchial
19	chr5:119790600-119793400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:119790600-119793800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:119790600-119793800	Weak transcription	NHLF	lung
22	chr5:119790800-119791200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:119790800-119791200	Enhancers	HSMMtube	muscle
24	chr5:119790800-119791800	Weak transcription	Fetal Lung	lung
25	chr5:119790800-119793400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:119790800-119793800	Weak transcription	Osteobl	bone
27	chr5:119791000-119793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:119791000-119793600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:119791000-119793600	Weak transcription	Left Ventricle	heart
30	chr5:119791000-119793800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:119791000-119794000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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