Variant report

Variant	rs66490630
Chromosome Location	chr15:40099769-40099770
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40094870..40096704-chr15:40097944..40100228,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12594027	0.89[AFR][1000 genomes]
rs12594113	0.89[AFR][1000 genomes]
rs2082939	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66610915	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7165244	0.82[AFR][1000 genomes]
rs72729422	0.92[EUR][1000 genomes]
rs73397128	0.84[AFR][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	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
2	chr15:40081400-40100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:40091000-40102600	Weak transcription	Adipose Nuclei	Adipose
4	chr15:40094200-40100400	Weak transcription	Spleen	Spleen
5	chr15:40094400-40100000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:40094400-40100200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:40094400-40102400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:40094400-40109600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:40094400-40120400	Weak transcription	HSMMtube	muscle
10	chr15:40094600-40100000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:40095400-40102600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:40096200-40120400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:40096400-40100000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:40096600-40101000	Weak transcription	NH-A	brain
15	chr15:40096800-40111600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40097200-40102400	Weak transcription	HMEC	breast
17	chr15:40097200-40110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:40097600-40100400	Weak transcription	NHEK	skin
19	chr15:40098800-40112200	Weak transcription	NHDF-Ad	bronchial
20	chr15:40099000-40100000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:40099200-40100000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:40099400-40100000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:40099400-40100000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:40099400-40100200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:40099400-40100200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:40099400-40100400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:40099400-40100400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:40099400-40100400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:40099400-40101000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:40099400-40109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:40099400-40109800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:40099400-40110000	Weak transcription	Osteobl	bone
33	chr15:40099400-40110800	Weak transcription	Aorta	Aorta
34	chr15:40099400-40115000	Weak transcription	NHLF	lung
35	chr15:40099400-40116600	Weak transcription	HSMM	muscle

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