Variant report

Variant	rs56323540
Chromosome Location	chr20:10909243-10909244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17799974	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55999852	1.00[AMR][1000 genomes]
rs6074194	1.00[ASN][1000 genomes]
rs6074221	1.00[ASN][1000 genomes]
rs6074228	1.00[ASN][1000 genomes]
rs6077955	1.00[ASN][1000 genomes]
rs6078017	1.00[ASN][1000 genomes]
rs6078035	1.00[ASN][1000 genomes]
rs62185670	1.00[ASN][1000 genomes]
rs7262797	1.00[ASN][1000 genomes]
rs73086911	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv912663	chr20:10891798-10963675	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2758513	chr20:10892138-11116725	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv2758781	chr20:10892138-11116725	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv912664	chr20:10907037-10963675	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:10901000-10920200	Weak transcription	Aorta	Aorta
2	chr20:10904000-10909400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr20:10904200-10909400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr20:10905000-10909800	Weak transcription	Psoas Muscle	Psoas
5	chr20:10906800-10914800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr20:10907800-10910200	Enhancers	Fetal Lung	lung
7	chr20:10907800-10910200	Enhancers	Ovary	ovary
8	chr20:10908000-10909400	Enhancers	Osteobl	bone
9	chr20:10908000-10910200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr20:10908000-10910200	Enhancers	HUVEC	blood vessel
11	chr20:10908200-10909400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr20:10908200-10909400	Enhancers	HSMM	muscle
13	chr20:10908200-10909600	Enhancers	NHDF-Ad	bronchial
14	chr20:10908400-10909400	Enhancers	NH-A	brain
15	chr20:10908600-10909600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr20:10908600-10910200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr20:10908600-10910200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:10909000-10909400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr20:10909000-10909400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr20:10909000-10909400	Enhancers	Fetal Stomach	stomach
21	chr20:10909000-10909400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr20:10909000-10909600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr20:10909000-10910000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:10909000-10910200	Enhancers	Adipose Nuclei	Adipose
25	chr20:10909000-10910200	Enhancers	NHLF	lung
26	chr20:10909200-10909400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr20:10909200-10909400	Enhancers	Left Ventricle	heart
28	chr20:10909200-10909400	Enhancers	Pancreas	Pancrea
29	chr20:10909200-10909400	Enhancers	Right Atrium	heart
30	chr20:10909200-10910000	Enhancers	HSMMtube	muscle
31	chr20:10909200-10910200	Enhancers	Fetal Muscle Leg	muscle
32	chr20:10909200-10916200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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