Variant report

Variant	rs275716
Chromosome Location	chr15:40112790-40112791
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs172104	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs275717	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs275718	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs275719	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs275720	0.87[AFR][1000 genomes]
rs388571	0.86[EUR][1000 genomes]
rs624191	0.89[AMR][1000 genomes]
rs676455	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40094400-40120400	Weak transcription	HSMMtube	muscle
2	chr15:40096200-40120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40099400-40115000	Weak transcription	NHLF	lung
4	chr15:40099400-40116600	Weak transcription	HSMM	muscle
5	chr15:40103000-40121400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:40104000-40116600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:40109200-40115200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr15:40109600-40113600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:40109800-40114600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:40110000-40115600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:40110200-40112800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr15:40110400-40129800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:40111400-40113200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:40111400-40114200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr15:40111600-40112800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40111600-40123400	Weak transcription	Aorta	Aorta
17	chr15:40111800-40112800	Enhancers	Osteobl	bone
18	chr15:40112200-40112800	Enhancers	Brain Germinal Matrix	brain
19	chr15:40112200-40113000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr15:40112200-40113200	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:40112200-40113200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:40112200-40113200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:40112200-40113200	Enhancers	NHDF-Ad	bronchial
24	chr15:40112400-40112800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:40112400-40112800	Enhancers	HUVEC	blood vessel
26	chr15:40112400-40113200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr15:40112400-40113400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr15:40112400-40115000	Weak transcription	Pancreas	Pancrea
29	chr15:40112600-40112800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:40112600-40114600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:40112600-40116200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:40112600-40120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:40112600-40121400	Weak transcription	Right Atrium	heart

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