Variant report

Variant	rs62488690
Chromosome Location	chr8:9920489-9920490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9919631..9921337-chr8:9921540..9924138,2	K562	blood:
2	chr8:9918343..9921337-chr8:9921540..9924718,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12544315	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17151026	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2661754	0.87[ASN][1000 genomes]
rs62488687	0.86[ASN][1000 genomes]
rs62488688	0.89[ASN][1000 genomes]
rs62488689	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62488691	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62488692	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62488695	0.88[AMR][1000 genomes];0.89[EUR][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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv890343	chr8:9888729-9932797	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1018236	chr8:9915428-9940481	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9913000-9933400	Weak transcription	Gastric	stomach
2	chr8:9913200-9921000	Weak transcription	Fetal Stomach	stomach
3	chr8:9913200-9922000	Weak transcription	Esophagus	oesophagus
4	chr8:9913200-9926600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:9913200-9927600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:9913200-9929200	Weak transcription	Aorta	Aorta
7	chr8:9913200-9933600	Weak transcription	Pancreas	Pancrea
8	chr8:9913200-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:9913400-9921200	Weak transcription	Adipose Nuclei	Adipose
10	chr8:9913400-9928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:9913400-9930600	Weak transcription	Fetal Intestine Small	intestine
12	chr8:9913400-9935800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:9913600-9938600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:9913800-9922600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:9914000-9929600	Weak transcription	Primary B cells from cord blood	blood
16	chr8:9914800-9947200	Weak transcription	Left Ventricle	heart
17	chr8:9915400-9922400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:9915400-9922400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:9917800-9921600	Weak transcription	Liver	Liver
20	chr8:9919600-9921400	Strong transcription	Primary T cells from cord blood	blood
21	chr8:9919600-9921600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr8:9919800-9923600	Weak transcription	Lung	lung
23	chr8:9919800-9925200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:9920200-9921200	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:9920200-9938400	Weak transcription	Spleen	Spleen
26	chr8:9920400-9921400	Strong transcription	Primary hematopoietic stem cells	blood

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