Variant report

Variant	rs55815182
Chromosome Location	chr8:131182323-131182324
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1030386	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11993716	0.93[ASN][1000 genomes]
rs12675936	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676014	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12676536	0.85[ASN][1000 genomes]
rs12676577	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12676977	0.85[ASN][1000 genomes]
rs12681590	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13253189	0.93[ASN][1000 genomes]
rs13256967	0.85[ASN][1000 genomes]
rs13269931	0.85[ASN][1000 genomes]
rs16904201	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904220	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904228	0.92[ASN][1000 genomes]
rs2114197	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34387098	0.85[ASN][1000 genomes]
rs34857454	0.85[ASN][1000 genomes]
rs36004599	0.85[ASN][1000 genomes]
rs56086422	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57047177	0.82[AMR][1000 genomes]
rs58012966	0.85[ASN][1000 genomes]
rs61558949	0.93[ASN][1000 genomes]
rs6986746	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7006658	0.93[ASN][1000 genomes]
rs7014715	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017795	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7018391	0.85[ASN][1000 genomes]
rs73405563	0.84[AMR][1000 genomes]
rs73425364	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7822764	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7836536	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897050	0.85[ASN][1000 genomes]
rs9942745	0.85[ASN][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	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	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
3	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
6	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:131149200-131184400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:131152800-131193600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
11	chr8:131156200-131194800	Weak transcription	Fetal Kidney	kidney
12	chr8:131156600-131194200	Weak transcription	GM12878-XiMat	blood
13	chr8:131159400-131194000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:131162600-131189600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:131163000-131198400	Weak transcription	Fetal Heart	heart
16	chr8:131164200-131186000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:131164400-131196600	Weak transcription	Brain Substantia Nigra	brain
18	chr8:131165400-131194200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:131166200-131193400	Strong transcription	Primary T cells from cord blood	blood
20	chr8:131166200-131194000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr8:131169600-131194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:131172000-131185400	Weak transcription	Gastric	stomach
24	chr8:131172200-131198800	Weak transcription	Small Intestine	intestine
25	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:131172600-131186800	Weak transcription	Colonic Mucosa	Colon
27	chr8:131172600-131199800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
29	chr8:131172800-131182600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:131173000-131198600	Weak transcription	Brain Angular Gyrus	brain
32	chr8:131173600-131206600	Weak transcription	Dnd41	blood
33	chr8:131174600-131192800	Weak transcription	HepG2	liver
34	chr8:131174600-131198800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:131176400-131184000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:131177000-131185600	Strong transcription	Placenta	Placenta
38	chr8:131177200-131182600	Strong transcription	HUVEC	blood vessel
39	chr8:131177200-131184400	Strong transcription	NHLF	lung
40	chr8:131177400-131182600	Strong transcription	NHEK	skin
41	chr8:131177600-131183600	Strong transcription	Left Ventricle	heart
42	chr8:131177600-131191600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr8:131177800-131185800	Strong transcription	NHDF-Ad	bronchial
44	chr8:131177800-131191200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:131177800-131192000	Strong transcription	Osteobl	bone
46	chr8:131178000-131183600	Strong transcription	A549	lung
47	chr8:131178000-131184000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:131178000-131185600	Strong transcription	HSMM	muscle
49	chr8:131179000-131194600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:131179000-131198800	Weak transcription	Fetal Lung	lung

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