Variant report

Variant	rs11592715
Chromosome Location	chr10:112792308-112792309
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112784890..112786956-chr10:112789080..112792697,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11195405	0.95[ASN][1000 genomes]
rs11195417	0.86[AFR][1000 genomes]
rs11599619	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12569835	0.86[ASN][1000 genomes]
rs12571756	0.92[ASN][1000 genomes]
rs12572049	0.81[ASN][1000 genomes]
rs17128130	0.81[ASN][1000 genomes]
rs17128212	0.90[ASN][1000 genomes]
rs1800545	0.86[AFR][1000 genomes]
rs4391757	0.84[ASN][1000 genomes]
rs4417202	0.91[EUR][1000 genomes]
rs4437961	0.93[EUR][1000 genomes]
rs55794717	0.87[ASN][1000 genomes]
rs56233990	0.81[ASN][1000 genomes]
rs56784382	0.87[ASN][1000 genomes]
rs56946887	0.86[ASN][1000 genomes]
rs7072811	0.81[ASN][1000 genomes]
rs7073594	0.89[ASN][1000 genomes]
rs7073880	0.89[ASN][1000 genomes]
rs73343848	0.84[ASN][1000 genomes]
rs73343859	0.84[ASN][1000 genomes]
rs73343879	0.87[ASN][1000 genomes]
rs73345956	0.95[ASN][1000 genomes]
rs7902347	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	nsv831985	chr10:112652089-112803103	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1042020	chr10:112686323-112795159	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1048444	chr10:112724159-112795159	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112765000-112794200	Weak transcription	NH-A	brain
2	chr10:112765000-112794400	Weak transcription	NHLF	lung
3	chr10:112765200-112794200	Weak transcription	NHEK	skin
4	chr10:112770800-112798800	Weak transcription	HMEC	breast
5	chr10:112773000-112793200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:112773000-112794000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr10:112781000-112794200	Weak transcription	HSMM	muscle
8	chr10:112783000-112792600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:112783000-112794200	Weak transcription	Osteobl	bone
10	chr10:112783000-112794400	Weak transcription	HSMMtube	muscle
11	chr10:112783400-112801400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:112783600-112794200	Weak transcription	NHDF-Ad	bronchial
13	chr10:112783800-112794200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:112790000-112792600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:112790000-112793200	Weak transcription	Pancreas	Pancrea
16	chr10:112790000-112793600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr10:112790200-112792600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:112791200-112792400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:112791200-112793400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:112791400-112792600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:112791400-112792800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:112791600-112792600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr10:112791600-112792800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:112791600-112792800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr10:112791600-112793000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr10:112791600-112793400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:112791800-112792800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood

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