Variant report

Variant	rs2997664
Chromosome Location	chr9:72676057-72676058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1007127	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[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]
rs1536956	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs1927106	0.82[EUR][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	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975890	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2975907	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2975908	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975910	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2975915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2975917	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2997652	0.87[ASN][1000 genomes]
rs2997676	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2997677	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2997678	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3015168	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015224	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3015232	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3015238	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015239	0.88[AFR][1000 genomes]
rs3015242	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744968	0.83[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72667600-72688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:72668800-72676600	Weak transcription	Gastric	stomach
3	chr9:72668800-72681400	Weak transcription	Esophagus	oesophagus
4	chr9:72669200-72682600	Weak transcription	Osteobl	bone
5	chr9:72670000-72688400	Weak transcription	NH-A	brain
6	chr9:72672400-72680200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr9:72672400-72681400	Weak transcription	Ovary	ovary
8	chr9:72672600-72676600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:72674000-72680600	Weak transcription	Adipose Nuclei	Adipose
10	chr9:72674000-72682800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:72674000-72684400	Weak transcription	Fetal Stomach	stomach
12	chr9:72674200-72676800	Weak transcription	Right Atrium	heart
13	chr9:72674200-72679400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:72674600-72677600	Genic enhancers	HSMMtube	muscle
15	chr9:72674800-72676600	Enhancers	H1 Cell Line	embryonic stem cell
16	chr9:72674800-72676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:72675000-72676400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr9:72675000-72676800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:72675000-72677600	Enhancers	NHDF-Ad	bronchial
20	chr9:72675000-72680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr9:72675200-72676400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:72675200-72676400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:72675400-72676200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr9:72675400-72676400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:72675400-72676800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:72675400-72677000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr9:72675600-72676400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:72675600-72676800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:72675600-72677000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr9:72675800-72676400	Genic enhancers	Stomach Smooth Muscle	stomach
31	chr9:72675800-72676800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:72675800-72677000	Genic enhancers	HSMM	muscle
33	chr9:72675800-72677400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr9:72675800-72678400	Genic enhancers	Colon Smooth Muscle	Colon
35	chr9:72676000-72676200	Enhancers	Spleen	Spleen
36	chr9:72676000-72676400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr9:72676000-72676600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:72676000-72676800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr9:72676000-72677000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:72676000-72678200	Weak transcription	HMEC	breast

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