Variant report

Variant	rs62489320
Chromosome Location	chr8:11567652-11567653
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	chr8:11559801..11562734-chr8:11565950..11568340,2	K562	blood:

Variant related genes	Relation type
ENSG00000136574	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56745056	1.00[EUR][1000 genomes]
rs62489315	1.00[EUR][1000 genomes]
rs62489316	1.00[EUR][1000 genomes]
rs62489318	1.00[EUR][1000 genomes]
rs62489321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62489323	1.00[EUR][1000 genomes]
rs62489324	1.00[EUR][1000 genomes]
rs62489340	1.00[EUR][1000 genomes]
rs62489341	1.00[EUR][1000 genomes]
rs62489342	1.00[EUR][1000 genomes]
rs62489346	1.00[EUR][1000 genomes]
rs62489347	1.00[EUR][1000 genomes]
rs62489350	1.00[EUR][1000 genomes]
rs62489351	1.00[EUR][1000 genomes]
rs7832153	1.00[EUR][1000 genomes]
rs7844208	1.00[EUR][1000 genomes]
rs7845076	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11560400-11568400	Active TSS	Right Atrium	heart
2	chr8:11563200-11568200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr8:11564200-11568000	Active TSS	Left Ventricle	heart
4	chr8:11564200-11568600	Active TSS	Pancreas	Pancrea
5	chr8:11565000-11568200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:11565400-11567800	Transcr. at gene 5' and 3'	Gastric	stomach
7	chr8:11565400-11568000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr8:11565400-11568200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:11565600-11568000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr8:11566400-11568000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:11566400-11568800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
12	chr8:11566600-11568000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:11566600-11568000	Active TSS	Right Ventricle	heart
14	chr8:11566800-11567800	Bivalent/Poised TSS	Fetal Stomach	stomach
15	chr8:11567200-11567800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr8:11567200-11567800	Flanking Active TSS	Fetal Heart	heart
17	chr8:11567200-11567800	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
18	chr8:11567200-11567800	Genic enhancers	HepG2	liver
19	chr8:11567200-11568200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr8:11567200-11574400	Enhancers	Liver	Liver
21	chr8:11567400-11567800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr8:11567400-11568000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr8:11567400-11568200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:11567400-11568600	Active TSS	Duodenum Mucosa	Duodenum
25	chr8:11567400-11568600	Active TSS	Ovary	ovary
26	chr8:11567600-11567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr8:11567600-11567800	Bivalent Enhancer	Colonic Mucosa	Colon
28	chr8:11567600-11567800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr8:11567600-11567800	Flanking Bivalent TSS/Enh	Placenta	Placenta
30	chr8:11567600-11568000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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