Variant report

Variant	rs62002493
Chromosome Location	chr15:40147127-40147128
allele	C/T
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]
rs11070235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1166729	0.97[ASN][1000 genomes]
rs11854663	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11855441	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12438821	0.86[ASN][1000 genomes]
rs12442442	0.99[ASN][1000 genomes]
rs12901508	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1436274	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166703	0.91[ASN][1000 genomes]
rs169328	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1836850	0.85[ASN][1000 genomes]
rs1865754	0.86[ASN][1000 genomes]
rs275747	0.81[ASN][1000 genomes]
rs28565083	0.86[ASN][1000 genomes]
rs35194933	0.86[ASN][1000 genomes]
rs3784392	0.86[ASN][1000 genomes]
rs4923842	0.99[ASN][1000 genomes]
rs4923843	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4924393	0.97[ASN][1000 genomes]
rs4924394	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62002492	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164392	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7181712	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40123600-40162400	Weak transcription	Aorta	Aorta
2	chr15:40138400-40162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:40142000-40149000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:40142200-40148200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:40142400-40148800	Enhancers	NHDF-Ad	bronchial
6	chr15:40142600-40148400	Enhancers	NHLF	lung
7	chr15:40142800-40148000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:40143600-40148600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr15:40143600-40148800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr15:40143600-40149200	Enhancers	H9 Cell Line	embryonic stem cell
11	chr15:40144200-40152600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:40144400-40147400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr15:40144400-40147600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:40144600-40147400	Weak transcription	HSMMtube	muscle
15	chr15:40144800-40149400	Weak transcription	HUVEC	blood vessel
16	chr15:40145000-40147800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:40145400-40147600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:40145600-40148800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:40145800-40152000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:40146000-40148200	Enhancers	Osteobl	bone
21	chr15:40146200-40148200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr15:40146400-40147600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:40146400-40147600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:40146600-40147400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr15:40146600-40153800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:40146800-40147200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:40146800-40147400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:40146800-40147600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:40146800-40154200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:40147000-40147200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:40147000-40147600	Weak transcription	HSMM	muscle
32	chr15:40147000-40148000	Enhancers	Adipose Nuclei	Adipose
33	chr15:40147000-40149600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:40147000-40150400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:40147000-40150800	Weak transcription	HMEC	breast

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