Variant report

Variant	rs72650430
Chromosome Location	chr8:61538836-61538837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61534044..61535710-chr8:61537564..61539138,2	K562	blood:
2	chr8:61534210..61537266-chr8:61537564..61540249,3	K562	blood:
3	chr8:61537605..61539859-chr8:61545071..61546845,2	K562	blood:
4	chr8:61535766..61537350-chr8:61537697..61540249,2	K562	blood:

Variant related genes	Relation type
ENSG00000228862	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56362746	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72648593	0.90[EUR][1000 genomes];0.87[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv831335	chr8:61497540-61688992	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv890945	chr8:61522008-61707725	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
2	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
3	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:61532600-61539200	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:61532600-61541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:61534000-61539600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:61534200-61540600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:61535000-61539200	Weak transcription	NHLF	lung
9	chr8:61535000-61542000	Weak transcription	A549	lung
10	chr8:61535400-61541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:61535400-61542200	Weak transcription	HSMMtube	muscle
12	chr8:61535600-61539200	Weak transcription	Fetal Intestine Large	intestine
13	chr8:61535600-61541600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:61536000-61539200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr8:61536000-61540600	Weak transcription	HUVEC	blood vessel
16	chr8:61536000-61541600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:61536200-61539000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:61536200-61539000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:61536200-61539200	Weak transcription	HSMM	muscle
20	chr8:61536200-61539400	Weak transcription	Liver	Liver
21	chr8:61536200-61539800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:61536200-61540000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:61536200-61540200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:61536200-61541200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:61536200-61541600	Weak transcription	HMEC	breast
26	chr8:61536400-61539200	Weak transcription	NHDF-Ad	bronchial
27	chr8:61538200-61544000	Weak transcription	Primary B cells from cord blood	blood

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