Variant report

No.	Distal block	Cell Line	Cell type
1	chr20:23052466..23054155-chr20:23054517..23057205,2	K562	blood:
2	chr20:23040959..23043316-chr20:23054663..23056939,2	K562	blood:
3	chr20:23055205..23057616-chr20:23057985..23062141,3	K562	blood:

Variant related genes	Relation type
ENSG00000256492	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11907361	0.94[ASN][1000 genomes]
rs17829240	1.00[ASN][1000 genomes]
rs41372845	0.82[ASN][1000 genomes]
rs6036299	1.00[ASN][1000 genomes]
rs6036300	1.00[ASN][1000 genomes]
rs6036301	1.00[ASN][1000 genomes]
rs6048442	1.00[EUR][1000 genomes]
rs6048525	0.88[ASN][1000 genomes]
rs6048534	1.00[ASN][1000 genomes]
rs6048647	1.00[EUR][1000 genomes]
rs6048653	1.00[EUR][1000 genomes]
rs6137826	1.00[EUR][1000 genomes]
rs6137831	1.00[EUR][1000 genomes]
rs6137833	1.00[EUR][1000 genomes]
rs6137834	1.00[EUR][1000 genomes]
rs6515301	1.00[EUR][1000 genomes]
rs73315019	1.00[EUR][1000 genomes]
rs7348306	0.80[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs8118517	1.00[EUR][1000 genomes]
rs8118610	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:17 , 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	chr20:23047200-23057800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr20:23047800-23059000	Weak transcription	Right Atrium	heart
6	chr20:23050800-23061200	Weak transcription	Esophagus	oesophagus
7	chr20:23051800-23058400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr20:23052600-23055400	Enhancers	HUVEC	blood vessel
9	chr20:23053000-23057000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr20:23053400-23061200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr20:23054000-23063400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr20:23054200-23057600	Weak transcription	Fetal Stomach	stomach
13	chr20:23054200-23057800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:23054200-23057800	Weak transcription	Left Ventricle	heart
15	chr20:23054800-23055600	Enhancers	Lung	lung
16	chr20:23055000-23055600	Strong transcription	Primary T cells from cord blood	blood
17	chr20:23055200-23056000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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