Variant report

Variant	rs17146628
Chromosome Location	chr5:119783440-119783441
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10036322	0.83[ASN][1000 genomes]
rs12523485	1.00[CHD][hapmap]
rs1432462	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1432463	0.86[ASN][1000 genomes]
rs1503928	0.86[ASN][1000 genomes]
rs1503929	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1524558	1.00[CHD][hapmap]
rs17146632	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17146635	0.82[AMR][1000 genomes]
rs17424128	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17489517	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489671	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17489720	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17490270	1.00[JPT][hapmap]
rs2077726	1.00[CHD][hapmap]
rs56398366	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57401201	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58699148	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58831848	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60249515	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61113370	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66523245	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72786224	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786225	1.00[ASN][1000 genomes]
rs72786226	0.86[ASN][1000 genomes]
rs72786229	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72786237	0.86[ASN][1000 genomes]
rs7730105	0.86[ASN][1000 genomes]
rs7734475	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][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	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119777400-119784000	Enhancers	Fetal Heart	heart
2	chr5:119777800-119785200	Weak transcription	Psoas Muscle	Psoas
3	chr5:119779600-119783600	Weak transcription	Aorta	Aorta
4	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:119780800-119784200	Enhancers	HUVEC	blood vessel
6	chr5:119780800-119786200	Enhancers	HSMM	muscle
7	chr5:119781000-119783800	Enhancers	NHLF	lung
8	chr5:119781000-119784000	Enhancers	NH-A	brain
9	chr5:119781000-119784000	Enhancers	Osteobl	bone
10	chr5:119781000-119784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:119781000-119786200	Enhancers	HSMMtube	muscle
12	chr5:119781400-119783600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:119781400-119785000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:119781800-119783600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:119781800-119783800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:119782000-119785800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:119782200-119785200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:119782400-119783800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:119782600-119786200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:119782800-119784000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:119782800-119784400	Enhancers	NHDF-Ad	bronchial
22	chr5:119782800-119790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:119783000-119793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:119783200-119783600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:119783200-119785200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr5:119783400-119783800	Enhancers	HMEC	breast
27	chr5:119783400-119784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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