Variant report

Variant	rs73313513
Chromosome Location	chr20:23059223-23059224
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1331065	1.00[EUR][1000 genomes]
rs1331069	1.00[EUR][1000 genomes]
rs16984778	1.00[EUR][1000 genomes]
rs16984879	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16984883	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16984886	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16984891	1.00[AFR][1000 genomes]
rs16984898	1.00[AFR][1000 genomes]
rs16984902	1.00[AFR][1000 genomes]
rs16984958	1.00[EUR][1000 genomes]
rs4289261	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57380874	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58224951	1.00[EUR][1000 genomes]
rs59750797	1.00[EUR][1000 genomes]
rs6048583	1.00[EUR][1000 genomes]
rs61044656	1.00[EUR][1000 genomes]
rs61060770	1.00[EUR][1000 genomes]
rs61201127	1.00[EUR][1000 genomes]
rs7271422	1.00[EUR][1000 genomes]
rs7273871	1.00[EUR][1000 genomes]
rs73297706	1.00[EUR][1000 genomes]
rs73305567	1.00[EUR][1000 genomes]
rs73309806	1.00[EUR][1000 genomes]
rs73309886	1.00[AFR][1000 genomes]
rs73309887	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73309897	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73309899	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73311903	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73311905	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73311914	1.00[AFR][1000 genomes]
rs73311916	1.00[AFR][1000 genomes]
rs73311920	1.00[AFR][1000 genomes]
rs73311922	1.00[AFR][1000 genomes]
rs73311937	1.00[AFR][1000 genomes]
rs73311941	1.00[AFR][1000 genomes]
rs73312001	1.00[AFR][1000 genomes]
rs73313506	1.00[EUR][1000 genomes]
rs73313534	1.00[EUR][1000 genomes]
rs73313539	1.00[EUR][1000 genomes]
rs844810	1.00[EUR][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	nsv912816	chr20:22757960-23062927	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 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	chr20:23043400-23063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23043600-23062200	Weak transcription	Placenta	Placenta
3	chr20:23043600-23066600	Weak transcription	Aorta	Aorta
4	chr20:23050800-23061200	Weak transcription	Esophagus	oesophagus
5	chr20:23053400-23061200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr20:23054000-23063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr20:23055600-23061200	Weak transcription	Primary T cells from cord blood	blood
8	chr20:23055600-23061200	Weak transcription	Spleen	Spleen
9	chr20:23057800-23062000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:23058000-23059600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr20:23058000-23061200	Weak transcription	Right Ventricle	heart
12	chr20:23058400-23061200	Genic enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:23058400-23062400	Genic enhancers	Primary monocytes fromperipheralblood	blood
14	chr20:23058600-23060200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr20:23058600-23061600	Enhancers	Brain Germinal Matrix	brain
16	chr20:23058800-23059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:23058800-23060400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr20:23058800-23061800	Genic enhancers	HUVEC	blood vessel
19	chr20:23059000-23059600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr20:23059000-23059600	Bivalent Enhancer	NHDF-Ad	bronchial
21	chr20:23059000-23059800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:23059000-23059800	Enhancers	Fetal Stomach	stomach
23	chr20:23059000-23059800	Enhancers	HSMM	muscle
24	chr20:23059000-23060000	Enhancers	Left Ventricle	heart
25	chr20:23059000-23060000	Enhancers	Lung	lung
26	chr20:23059000-23060000	Enhancers	Right Atrium	heart
27	chr20:23059000-23060400	Enhancers	HSMMtube	muscle
28	chr20:23059200-23060200	Enhancers	K562	blood
29	chr20:23059200-23060400	Enhancers	Fetal Lung	lung
30	chr20:23059200-23061200	Weak transcription	Fetal Muscle Leg	muscle
31	chr20:23059200-23061200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr20:23059200-23062400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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