Variant report

Variant	rs60183508
Chromosome Location	chr1:172132708-172132709
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10489298	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16843944	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16843959	0.80[EUR][1000 genomes]
rs16843972	0.82[ASN][1000 genomes]
rs1746427	0.82[ASN][1000 genomes]
rs2209097	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs491767	0.82[ASN][1000 genomes]
rs499106	0.81[ASN][1000 genomes]
rs510473	0.82[ASN][1000 genomes]
rs515060	0.81[ASN][1000 genomes]
rs535441	0.81[ASN][1000 genomes]
rs552191	0.81[ASN][1000 genomes]
rs570742	0.82[ASN][1000 genomes]
rs608156	0.81[ASN][1000 genomes]
rs610082	0.82[ASN][1000 genomes]
rs610587	0.82[ASN][1000 genomes]
rs61633880	0.82[ASN][1000 genomes]
rs624538	0.82[ASN][1000 genomes]
rs629762	0.82[ASN][1000 genomes]
rs682215	0.82[ASN][1000 genomes]
rs9425503	0.82[ASN][1000 genomes]
rs9425504	0.82[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	nsv532342	chr1:171922237-172133785	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172114400-172137000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:172115000-172133800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:172123400-172149200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:172125200-172137800	Weak transcription	Fetal Kidney	kidney
5	chr1:172125600-172137400	Weak transcription	NHLF	lung
6	chr1:172128400-172149800	Weak transcription	Aorta	Aorta
7	chr1:172131000-172137800	Weak transcription	Fetal Stomach	stomach
8	chr1:172131800-172132800	Weak transcription	Fetal Lung	lung
9	chr1:172132000-172134400	Enhancers	Fetal Heart	heart
10	chr1:172132200-172134800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:172132400-172132800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:172132400-172132800	Enhancers	Fetal Muscle Trunk	muscle
13	chr1:172132400-172132800	Enhancers	Left Ventricle	heart
14	chr1:172132400-172134800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:172132600-172132800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:172132600-172132800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:172132600-172132800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:172132600-172132800	Enhancers	Pancreas	Pancrea
19	chr1:172132600-172133000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:172132600-172133000	Enhancers	HSMM	muscle
21	chr1:172132600-172133200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:172132600-172133200	Enhancers	A549	lung
23	chr1:172132600-172133400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:172132600-172133600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:172132600-172133800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:172132600-172134000	Enhancers	NH-A	brain
27	chr1:172132600-172134000	Enhancers	Osteobl	bone
28	chr1:172132600-172134200	Enhancers	NHDF-Ad	bronchial
29	chr1:172132600-172134800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:172132600-172137400	Weak transcription	Right Ventricle	heart

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