Variant report

Variant	rs17146644
Chromosome Location	chr5:119790205-119790206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12109029	0.89[ASN][1000 genomes]
rs13359009	1.00[ASN][1000 genomes]
rs1432461	1.00[ASN][1000 genomes]
rs1432462	0.85[EUR][1000 genomes]
rs1503929	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17146632	0.85[EUR][1000 genomes]
rs17146635	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17424128	0.85[EUR][1000 genomes]
rs17489517	0.85[EUR][1000 genomes]
rs17489671	0.85[EUR][1000 genomes]
rs17489720	0.85[EUR][1000 genomes]
rs4895253	0.83[ASN][1000 genomes]
rs56398366	0.85[EUR][1000 genomes]
rs57401201	0.85[EUR][1000 genomes]
rs58699148	0.85[EUR][1000 genomes]
rs58831848	0.85[EUR][1000 genomes]
rs60249515	0.85[EUR][1000 genomes]
rs61113370	0.83[EUR][1000 genomes]
rs66523245	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72786224	0.85[EUR][1000 genomes]
rs72786229	0.85[EUR][1000 genomes]
rs7734475	0.84[EUR][1000 genomes]
rs9327142	0.83[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:39 , 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	chr5:119787400-119790800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:119787400-119793000	Weak transcription	Pancreas	Pancrea
7	chr5:119787400-119799600	Weak transcription	Psoas Muscle	Psoas
8	chr5:119787600-119791000	Enhancers	HSMM	muscle
9	chr5:119788800-119790600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:119788800-119794000	Enhancers	Fetal Heart	heart
11	chr5:119789200-119791000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:119789200-119791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:119789200-119791200	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr5:119789400-119790800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:119789600-119791000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:119789800-119790400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:119789800-119790400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:119789800-119790600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:119789800-119790800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:119789800-119790800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:119789800-119790800	Enhancers	Fetal Lung	lung
22	chr5:119790000-119790400	Enhancers	Adipose Nuclei	Adipose
23	chr5:119790000-119790400	Enhancers	Fetal Kidney	kidney
24	chr5:119790000-119790400	Enhancers	HMEC	breast
25	chr5:119790000-119790600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr5:119790000-119790600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:119790000-119790600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:119790000-119790600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr5:119790000-119790600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr5:119790000-119790600	Enhancers	NH-A	brain
31	chr5:119790000-119790600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr5:119790000-119790600	Enhancers	NHLF	lung
33	chr5:119790000-119790600	Flanking Active TSS	Osteobl	bone
34	chr5:119790000-119790800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:119790000-119790800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:119790200-119790400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr5:119790200-119790600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr5:119790200-119790600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:119790200-119790800	Active TSS	HSMMtube	muscle

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