Variant report

Variant	rs2975917
Chromosome Location	chr9:72669680-72669681
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1007127	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10481740	0.92[ASN][1000 genomes]
rs10481741	0.92[ASN][1000 genomes]
rs10735583	0.92[ASN][1000 genomes]
rs10780811	0.92[ASN][1000 genomes]
rs1927106	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1927115	0.86[ASN][1000 genomes]
rs2148861	0.86[ASN][1000 genomes]
rs2209779	0.91[ASN][1000 genomes]
rs2281935	0.82[ASN][1000 genomes]
rs2975862	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975890	0.92[ASN][1000 genomes]
rs2975907	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2975908	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2975915	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2997652	0.87[ASN][1000 genomes]
rs2997664	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2997676	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2997677	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2997678	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3015168	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015224	0.89[ASN][1000 genomes]
rs3015232	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3015238	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015239	0.86[AFR][1000 genomes]
rs3015242	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744968	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4744977	0.92[ASN][1000 genomes]
rs4744978	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893438	chr9:72363992-72720438	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1049457	chr9:72539144-72765913	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831613	chr9:72586058-72740061	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72661600-72671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:72661600-72672000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:72661800-72671600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72664800-72670400	Weak transcription	Left Ventricle	heart
5	chr9:72664800-72670400	Weak transcription	Right Ventricle	heart
6	chr9:72665000-72669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:72665000-72670200	Weak transcription	Lung	lung
8	chr9:72665200-72670200	Weak transcription	Fetal Stomach	stomach
9	chr9:72665200-72673600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:72665400-72673200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:72666800-72670600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr9:72667000-72670200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:72667000-72670600	Enhancers	HMEC	breast
14	chr9:72667200-72669800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:72667200-72670000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:72667200-72670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:72667400-72670600	Genic enhancers	HSMM	muscle
18	chr9:72667600-72670600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:72667600-72688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:72667800-72670000	Enhancers	HSMMtube	muscle
21	chr9:72667800-72670400	Enhancers	NHEK	skin
22	chr9:72667800-72670600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr9:72668200-72670400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr9:72668400-72670000	Enhancers	HUVEC	blood vessel
25	chr9:72668400-72670600	Enhancers	Fetal Muscle Leg	muscle
26	chr9:72668600-72670000	Enhancers	NH-A	brain
27	chr9:72668600-72670200	Weak transcription	Psoas Muscle	Psoas
28	chr9:72668800-72670000	Weak transcription	Aorta	Aorta
29	chr9:72668800-72670200	Weak transcription	Adipose Nuclei	Adipose
30	chr9:72668800-72670200	Weak transcription	Ovary	ovary
31	chr9:72668800-72670200	Weak transcription	Right Atrium	heart
32	chr9:72668800-72671400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:72668800-72671600	Weak transcription	Pancreas	Pancrea
34	chr9:72668800-72671600	Weak transcription	Spleen	Spleen
35	chr9:72668800-72675800	Enhancers	Rectal Smooth Muscle	rectum
36	chr9:72668800-72676600	Weak transcription	Gastric	stomach
37	chr9:72668800-72681400	Weak transcription	Esophagus	oesophagus
38	chr9:72669000-72670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr9:72669200-72669800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:72669200-72670200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:72669200-72670200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:72669200-72675000	Weak transcription	NHDF-Ad	bronchial
43	chr9:72669200-72682600	Weak transcription	Osteobl	bone
44	chr9:72669400-72670400	Weak transcription	Hela-S3	cervix
45	chr9:72669400-72670400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr9:72669600-72669800	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr9:72669600-72670000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr9:72669600-72671000	Enhancers	Fetal Lung	lung
49	chr9:72669600-72671200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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