Variant report

Variant	rs8136470
Chromosome Location	chr22:33119113-33119114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10854627	0.83[CHB][hapmap]
rs10854628	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs11089590	0.86[ASN][1000 genomes]
rs11913403	0.85[ASN][1000 genomes]
rs13058500	0.83[CHB][hapmap]
rs16991084	0.83[CHB][hapmap]
rs2899193	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs3827339	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs5754222	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs5754226	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs5754227	0.89[CHB][hapmap]
rs725338	0.81[ASN][1000 genomes]
rs7286819	0.82[CHB][hapmap]
rs7291090	0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs7291198	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs7291871	0.82[ASN][1000 genomes]
rs743741	0.83[CHB][hapmap]
rs743742	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs743745	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs9619301	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs9621545	0.88[JPT][hapmap]
rs997120	0.89[CHB][hapmap];0.82[ASN][1000 genomes]

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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv588897	chr22:33116314-33139230	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33112200-33121400	Enhancers	Fetal Thymus	thymus
2	chr22:33113000-33121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr22:33113400-33120400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr22:33114200-33119400	Weak transcription	Esophagus	oesophagus
5	chr22:33114400-33119400	Weak transcription	Left Ventricle	heart
6	chr22:33114400-33121400	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:33114600-33121800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:33115600-33119600	Enhancers	Thymus	Thymus
9	chr22:33115800-33119400	Enhancers	Dnd41	blood
10	chr22:33115800-33122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr22:33116000-33119400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr22:33116000-33119600	Enhancers	Primary T cells from cord blood	blood
13	chr22:33116200-33119400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:33116400-33119600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr22:33116400-33120400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr22:33116400-33120600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr22:33116600-33120400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:33116600-33120400	Enhancers	Osteobl	bone
19	chr22:33116600-33120800	Enhancers	Fetal Stomach	stomach
20	chr22:33116800-33120400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:33116800-33121600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:33116800-33121800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr22:33117000-33119200	Weak transcription	Fetal Kidney	kidney
24	chr22:33117000-33119400	Weak transcription	Colonic Mucosa	Colon
25	chr22:33117200-33120600	Enhancers	HMEC	breast
26	chr22:33117400-33119200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:33117400-33119400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr22:33117400-33119600	Weak transcription	Fetal Intestine Large	intestine
29	chr22:33117400-33121000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr22:33117400-33124200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:33118000-33119200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:33118000-33120400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:33118200-33120400	Enhancers	Spleen	Spleen
34	chr22:33118400-33120000	Enhancers	Fetal Muscle Trunk	muscle
35	chr22:33118400-33120400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr22:33118400-33120400	Enhancers	Fetal Muscle Leg	muscle
37	chr22:33118400-33120600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:33118400-33121200	Weak transcription	HepG2	liver
39	chr22:33118400-33121400	Enhancers	Primary hematopoietic stem cells	blood
40	chr22:33118600-33119600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr22:33118600-33120400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:33118600-33120400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr22:33118600-33120400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:33118600-33120400	Enhancers	HSMMtube	muscle
45	chr22:33118600-33120600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr22:33118600-33120600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr22:33118600-33121800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:33118800-33119200	Weak transcription	Right Atrium	heart
49	chr22:33118800-33119400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr22:33118800-33119400	Enhancers	NHEK	skin

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