Variant report

Variant	rs2385092
Chromosome Location	chr8:126346977-126346978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126345442..126348175-chr8:126352080..126354376,2	MCF-7	breast:
2	chr8:126344683..126349065-chr8:126441599..126445443,4	MCF-7	breast:
3	chr8:126338417..126342692-chr8:126345063..126348300,5	K562	blood:
4	chr8:126338417..126340973-chr8:126346730..126348300,2	K562	blood:
5	chr8:126329552..126332451-chr8:126346573..126348088,2	MCF-7	breast:
6	chr8:126342278..126347810-chr8:126440203..126444121,7	K562	blood:
7	chr8:126344931..126347810-chr8:126440770..126444279,4	K562	blood:
8	chr8:126345301..126349169-chr8:126355838..126358002,3	K562	blood:
9	chr8:126342754..126344650-chr8:126346334..126348343,3	K562	blood:
10	chr8:126243523..126245735-chr8:126346026..126348956,2	MCF-7	breast:
11	chr8:126341644..126344065-chr8:126344220..126347316,3	K562	blood:
12	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
13	chr8:126345301..126348257-chr8:126356475..126358002,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10100566	0.83[JPT][hapmap]
rs10505453	0.82[JPT][hapmap]
rs10956240	0.83[JPT][hapmap]
rs10956241	0.83[JPT][hapmap]
rs11777625	0.83[JPT][hapmap]
rs11780099	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549738	0.83[JPT][hapmap]
rs13255114	0.87[JPT][hapmap]
rs2293890	0.83[JPT][hapmap]
rs2385098	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2385100	0.83[JPT][hapmap]
rs2891677	0.83[JPT][hapmap]
rs2891678	0.83[JPT][hapmap]
rs34225920	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4466418	0.83[JPT][hapmap]
rs6470350	0.83[JPT][hapmap]
rs6986712	0.83[JPT][hapmap]
rs7004739	0.83[JPT][hapmap]
rs7815471	0.83[JPT][hapmap]
rs7822592	0.83[JPT][hapmap];0.85[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
7	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
8	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
10	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
11	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:126340800-126347400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr8:126341600-126354200	Weak transcription	Lung	lung
14	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:126344000-126347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:126344400-126352200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:126344600-126347000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
20	chr8:126344800-126353800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:126345200-126353400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr8:126345400-126347000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:126345400-126348600	Weak transcription	HMEC	breast
24	chr8:126345800-126347600	Enhancers	HSMMtube	muscle
25	chr8:126345800-126348000	Enhancers	Fetal Heart	heart
26	chr8:126346000-126347000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:126346000-126347000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:126346000-126347000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr8:126346000-126347000	Enhancers	Fetal Muscle Leg	muscle
30	chr8:126346000-126347000	Flanking Active TSS	K562	blood
31	chr8:126346000-126347400	Enhancers	HSMM	muscle
32	chr8:126346000-126348000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr8:126346000-126348800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:126346000-126348800	Enhancers	Fetal Intestine Large	intestine
35	chr8:126346200-126347000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:126346200-126347000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:126346200-126347000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:126346200-126347000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr8:126346200-126347000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:126346200-126347000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr8:126346200-126347000	Enhancers	A549	lung
42	chr8:126346200-126347400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:126346200-126347600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr8:126346200-126347800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:126346400-126347000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:126346400-126347000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr8:126346400-126347000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr8:126346400-126347000	Flanking Active TSS	HepG2	liver
49	chr8:126346400-126347400	Enhancers	Placenta	Placenta
50	chr8:126346400-126347600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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