Variant report

Variant	rs62525931
Chromosome Location	chr8:131336775-131336776
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131325774..131327833-chr8:131336321..131339218,2	K562	blood:
2	chr8:131335598..131338253-chr8:131338429..131341406,2	MCF-7	breast:
3	chr8:131336690..131338851-chr8:131341065..131343497,2	K562	blood:
4	chr8:131328562..131331530-chr8:131335260..131337875,2	K562	blood:
5	chr8:131335044..131338190-chr8:131340619..131343497,3	K562	blood:
6	chr8:131318340..131321278-chr8:131336360..131338722,2	MCF-7	breast:
7	chr8:131196822..131199241-chr8:131335887..131338128,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1017281	0.82[EUR][1000 genomes]
rs10956514	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1123205	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11774947	0.87[EUR][1000 genomes]
rs11775292	0.80[EUR][1000 genomes]
rs13258946	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13265869	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1340021	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1538728	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17212137	0.84[EUR][1000 genomes]
rs17284725	0.81[EUR][1000 genomes]
rs17285138	0.82[ASN][1000 genomes]
rs1978550	0.85[EUR][1000 genomes]
rs2894508	0.80[EUR][1000 genomes]
rs34656350	0.87[EUR][1000 genomes]
rs4733571	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4733572	0.86[EUR][1000 genomes]
rs4733780	0.87[EUR][1000 genomes]
rs4733781	0.84[ASN][1000 genomes]
rs62525919	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6470812	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6470815	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7018225	0.92[EUR][1000 genomes]
rs7832651	0.82[EUR][1000 genomes]
rs7839155	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9643252	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[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	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131315600-131342000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:131315600-131353400	Weak transcription	Dnd41	blood
3	chr8:131322000-131338200	Weak transcription	Esophagus	oesophagus
4	chr8:131323400-131345600	Weak transcription	Fetal Intestine Small	intestine
5	chr8:131324800-131344600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:131326800-131347800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:131327000-131345600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:131327200-131337800	Weak transcription	Fetal Kidney	kidney
9	chr8:131329000-131337000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:131330200-131353400	Weak transcription	Aorta	Aorta
11	chr8:131330800-131338400	Weak transcription	Placenta	Placenta
12	chr8:131331000-131342400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:131331200-131340400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:131331800-131339600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:131331800-131340000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:131332000-131337000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr8:131332000-131338400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:131332000-131338600	Weak transcription	Primary B cells from cord blood	blood
19	chr8:131332000-131340800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:131332600-131341200	Weak transcription	Fetal Stomach	stomach
21	chr8:131332600-131341400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:131332600-131342600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:131332600-131344800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131332800-131337200	Enhancers	Adipose Nuclei	Adipose
25	chr8:131332800-131339200	Weak transcription	Lung	lung
26	chr8:131332800-131339400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:131332800-131339800	Weak transcription	GM12878-XiMat	blood
28	chr8:131333000-131339200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr8:131333200-131339600	Enhancers	Brain Anterior Caudate	brain
30	chr8:131333200-131344200	Enhancers	NHDF-Ad	bronchial
31	chr8:131333400-131343000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:131333600-131337000	Enhancers	Primary T cells from cord blood	blood
33	chr8:131333600-131337200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr8:131333600-131337400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:131333600-131338200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr8:131333600-131338400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:131333800-131336800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:131333800-131338400	Weak transcription	Ovary	ovary
39	chr8:131333800-131339200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:131334000-131337600	Weak transcription	HepG2	liver
41	chr8:131334000-131338400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:131334200-131336800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:131334200-131337400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:131334200-131337600	Enhancers	Brain Angular Gyrus	brain
45	chr8:131334200-131338400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:131334600-131339800	Enhancers	Fetal Thymus	thymus
47	chr8:131334800-131336800	Enhancers	Brain Substantia Nigra	brain
48	chr8:131334800-131337200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:131334800-131339400	Enhancers	Stomach Smooth Muscle	stomach
50	chr8:131334800-131346600	Weak transcription	Primary B cells from peripheral blood	blood

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