Variant report

Variant	rs12210764
Chromosome Location	chr6:80418181-80418182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80408678..80410939-chr6:80416985..80419147,2	K562	blood:
2	chr6:80417426..80420440-chr6:80422199..80426548,5	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12212008	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2207369	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4706101	0.95[ASN][1000 genomes]
rs55671169	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6900699	0.95[ASN][1000 genomes]
rs6942089	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs761605	0.85[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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80396800-80419800	Weak transcription	Right Ventricle	heart
2	chr6:80396800-80420000	Weak transcription	Lung	lung
3	chr6:80397800-80421400	Weak transcription	Pancreas	Pancrea
4	chr6:80398000-80421400	Weak transcription	Stomach Mucosa	stomach
5	chr6:80398200-80421400	Weak transcription	Fetal Lung	lung
6	chr6:80404000-80419800	Weak transcription	Gastric	stomach
7	chr6:80405000-80423800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:80405400-80421000	Weak transcription	Brain Anterior Caudate	brain
9	chr6:80405400-80421400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:80406200-80421000	Weak transcription	Adipose Nuclei	Adipose
11	chr6:80408400-80424000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:80408800-80422000	Weak transcription	Fetal Intestine Small	intestine
13	chr6:80409000-80418200	Weak transcription	Fetal Stomach	stomach
14	chr6:80409600-80421400	Weak transcription	Left Ventricle	heart
15	chr6:80409800-80421200	Weak transcription	Fetal Brain Female	brain
16	chr6:80409800-80423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:80410000-80421400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:80412800-80419800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:80416000-80421000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:80417400-80418400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:80417600-80418200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:80417800-80418200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:80418000-80418200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:80418000-80423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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