Variant report

Variant	rs3181365
Chromosome Location	chr9:117666924-117666925
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1006025	0.81[EUR][1000 genomes]
rs1006026	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1006027	0.81[EUR][1000 genomes]
rs10081728	0.82[EUR][1000 genomes]
rs10817679	0.90[ASN][1000 genomes]
rs10817682	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10817683	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10982445	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10982449	0.82[EUR][1000 genomes]
rs10982450	0.83[EUR][1000 genomes]
rs10982451	0.82[EUR][1000 genomes]
rs10982453	0.82[EUR][1000 genomes]
rs10982454	0.82[EUR][1000 genomes]
rs10982455	0.82[EUR][1000 genomes]
rs10982456	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1126711	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12337739	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12338765	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12347977	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12352646	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1322054	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322056	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322058	0.82[EUR][1000 genomes]
rs1322060	0.81[EUR][1000 genomes]
rs1322067	0.97[EUR][1000 genomes]
rs1407309	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17292087	0.84[EUR][1000 genomes]
rs2075533	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2181036	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2208640	0.83[EUR][1000 genomes]
rs2295800	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2418324	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2418325	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2974	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3181195	0.84[EUR][1000 genomes]
rs3181197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181200	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3181201	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3181202	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3181348	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3181363	0.83[EUR][1000 genomes]
rs3181364	0.85[EUR][1000 genomes]
rs3181366	0.85[EUR][1000 genomes]
rs3181367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3181368	0.84[EUR][1000 genomes]
rs3181369	0.84[EUR][1000 genomes]
rs3181370	0.84[EUR][1000 genomes]
rs3181371	0.83[EUR][1000 genomes]
rs3181372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3181374	0.82[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3789879	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4978611	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4979470	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4979471	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4979472	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4979473	0.83[EUR][1000 genomes]
rs6478117	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7025577	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7028578	0.84[EUR][1000 genomes]
rs7030090	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7032773	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7036962	0.82[EUR][1000 genomes]
rs7037640	0.83[EUR][1000 genomes]
rs726657	0.83[EUR][1000 genomes]
rs7858603	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7872878	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs911603	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs927373	0.83[EUR][1000 genomes]
rs927374	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs927375	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[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	nsv831695	chr9:117567626-117726247	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv893767	chr9:117627569-117689838	Bivalent Enhancer Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117657800-117669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:117658400-117667400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:117658600-117669200	Weak transcription	Fetal Stomach	stomach
4	chr9:117661800-117669800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:117662200-117676200	Weak transcription	Gastric	stomach
6	chr9:117662800-117670600	Weak transcription	Esophagus	oesophagus
7	chr9:117663000-117668600	Weak transcription	Placenta	Placenta
8	chr9:117663000-117669200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:117663200-117669000	Strong transcription	Primary B cells from cord blood	blood
10	chr9:117663400-117672800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr9:117663600-117667400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:117663600-117668200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:117663600-117669000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr9:117663600-117672400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr9:117664000-117670200	Weak transcription	HSMMtube	muscle
16	chr9:117664400-117667800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr9:117664400-117668200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr9:117664400-117670200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:117664600-117668600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:117664800-117669200	Strong transcription	Thymus	Thymus
21	chr9:117665400-117667400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:117665400-117668600	Weak transcription	HUVEC	blood vessel
23	chr9:117665400-117670200	Weak transcription	Osteobl	bone
24	chr9:117665400-117670400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:117665600-117667200	Weak transcription	Fetal Intestine Small	intestine
26	chr9:117665600-117667400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:117665600-117667600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr9:117665600-117669200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:117665600-117669400	Weak transcription	HSMM	muscle
30	chr9:117665600-117671000	Weak transcription	NHLF	lung
31	chr9:117665800-117667000	Weak transcription	NHDF-Ad	bronchial
32	chr9:117665800-117667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:117665800-117667600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:117665800-117668800	Strong transcription	Primary T cells from cord blood	blood
35	chr9:117665800-117668800	Weak transcription	HMEC	breast
36	chr9:117665800-117669200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:117665800-117669200	Weak transcription	Duodenum Mucosa	Duodenum
38	chr9:117665800-117669200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr9:117665800-117669200	Weak transcription	Small Intestine	intestine
40	chr9:117665800-117669400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr9:117665800-117669400	Weak transcription	Hela-S3	cervix
42	chr9:117665800-117669400	Weak transcription	NHEK	skin
43	chr9:117665800-117669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:117665800-117670400	Genic enhancers	Primary T cells fromperipheralblood	blood
45	chr9:117665800-117670400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr9:117665800-117672800	Weak transcription	Spleen	Spleen
47	chr9:117666000-117667000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr9:117666000-117667200	Weak transcription	Fetal Intestine Large	intestine
49	chr9:117666000-117668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:117666000-117668600	Weak transcription	Placenta Amnion	Placenta Amnion

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