Variant report

Variant	rs2812721
Chromosome Location	chr6:80421533-80421534
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80419693..80422143-chr6:80449094..80451969,2	K562	blood:
2	chr6:80313081..80315712-chr6:80421227..80423737,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2746320	0.80[EUR][1000 genomes]
rs2746321	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2812716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6933366	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9448771	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1021143	chr6:80400195-80598163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr6:80405000-80423800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:80408400-80424000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:80408800-80422000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:80409800-80423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:80418000-80423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:80418200-80421600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:80418200-80424000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr6:80418400-80423800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:80420200-80422400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:80420200-80424000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:80420200-80424600	Weak transcription	Esophagus	oesophagus
12	chr6:80420200-80424800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:80421000-80421600	Enhancers	Brain Hippocampus Middle	brain
14	chr6:80421000-80422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:80421000-80422600	Enhancers	Adipose Nuclei	Adipose
16	chr6:80421200-80421600	Enhancers	Brain Angular Gyrus	brain
17	chr6:80421200-80421600	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:80421200-80421600	Enhancers	Fetal Brain Female	brain
19	chr6:80421400-80421600	Enhancers	Left Ventricle	heart
20	chr6:80421400-80421600	Enhancers	Lung	lung
21	chr6:80421400-80421600	Enhancers	Pancreas	Pancrea
22	chr6:80421400-80421600	Enhancers	Small Intestine	intestine
23	chr6:80421400-80421800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr6:80421400-80421800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:80421400-80422000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:80421400-80422000	Enhancers	Stomach Mucosa	stomach
27	chr6:80421400-80422200	Enhancers	Fetal Lung	lung

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