Variant report

Variant	rs1856471
Chromosome Location	chr20:23077576-23077577
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23073935..23077646-chr20:23127330..23130238,3	K562	blood:
2	chr20:23073015..23074708-chr20:23076169..23077685,2	K562	blood:
3	chr20:23077030..23079208-chr20:23089965..23091827,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs6048544	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048545	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048546	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6048548	0.85[EUR][1000 genomes]
rs6048549	0.85[EUR][1000 genomes]
rs6076024	0.84[EUR][1000 genomes]
rs62202612	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs844814	0.81[EUR][1000 genomes]
rs844815	0.82[EUR][1000 genomes]
rs844816	0.94[CEU][hapmap];0.84[EUR][1000 genomes]
rs844817	0.84[EUR][1000 genomes]
rs844819	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs844821	0.84[EUR][1000 genomes]
rs844822	0.84[EUR][1000 genomes]
rs844823	0.85[EUR][1000 genomes]
rs844825	0.84[EUR][1000 genomes]
rs844827	0.84[EUR][1000 genomes]
rs844830	0.84[EUR][1000 genomes]
rs844831	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23069000-23080400	Weak transcription	Fetal Thymus	thymus
2	chr20:23072400-23077600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:23073000-23087000	Weak transcription	Gastric	stomach
5	chr20:23073800-23079400	Enhancers	Esophagus	oesophagus
6	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
7	chr20:23074600-23080400	Weak transcription	Spleen	Spleen
8	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
10	chr20:23075000-23079000	Enhancers	HMEC	breast
11	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung
13	chr20:23075200-23078800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr20:23076200-23077600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:23076200-23079200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr20:23076600-23077600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:23076600-23082400	Weak transcription	HUVEC	blood vessel
18	chr20:23076800-23079200	Enhancers	Lung	lung
19	chr20:23077200-23078200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr20:23077400-23077800	Flanking Active TSS	NHEK	skin
21	chr20:23077400-23078800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:23077400-23079200	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr20:23077400-23084800	Enhancers	Placenta	Placenta

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