Variant report

Variant	rs72709197
Chromosome Location	chr9:72668868-72668869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10511979	0.87[ASN][1000 genomes]
rs1112232	0.91[ASN][1000 genomes]
rs12002407	0.91[ASN][1000 genomes]
rs12003971	0.90[ASN][1000 genomes]
rs12685632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685937	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12685939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686383	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12686668	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17087686	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17523363	1.00[ASN][1000 genomes]
rs1927105	0.89[ASN][1000 genomes]
rs1927110	0.89[ASN][1000 genomes]
rs1986412	0.91[ASN][1000 genomes]
rs2001235	0.93[ASN][1000 genomes]
rs2296772	0.84[ASN][1000 genomes]
rs2296773	0.84[ASN][1000 genomes]
rs2309584	0.91[ASN][1000 genomes]
rs2975866	0.90[ASN][1000 genomes]
rs2975867	0.90[ASN][1000 genomes]
rs2975868	0.90[ASN][1000 genomes]
rs2975880	0.89[ASN][1000 genomes]
rs2975884	0.89[ASN][1000 genomes]
rs2975911	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2997668	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2997679	0.91[ASN][1000 genomes]
rs2997681	0.86[ASN][1000 genomes]
rs2997714	0.89[ASN][1000 genomes]
rs3015165	0.96[ASN][1000 genomes]
rs3015169	0.92[ASN][1000 genomes]
rs3015170	0.92[ASN][1000 genomes]
rs3015171	0.90[ASN][1000 genomes]
rs3015173	0.92[ASN][1000 genomes]
rs3015174	0.92[ASN][1000 genomes]
rs3015175	0.93[ASN][1000 genomes]
rs3015177	0.91[ASN][1000 genomes]
rs3015180	0.91[ASN][1000 genomes]
rs3015181	0.91[ASN][1000 genomes]
rs3015182	0.91[ASN][1000 genomes]
rs3015184	0.90[ASN][1000 genomes]
rs3015185	0.90[ASN][1000 genomes]
rs3015186	0.90[ASN][1000 genomes]
rs3015189	0.90[ASN][1000 genomes]
rs3015198	0.89[ASN][1000 genomes]
rs3015204	0.89[ASN][1000 genomes]
rs3015207	0.89[ASN][1000 genomes]
rs3015213	0.89[ASN][1000 genomes]
rs3015223	0.86[ASN][1000 genomes]
rs3829096	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4289878	0.90[ASN][1000 genomes]
rs4460447	0.89[ASN][1000 genomes]
rs4495496	0.84[ASN][1000 genomes]
rs58085049	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58660710	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61416419	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72709200	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72710469	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72710483	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs745852	0.89[ASN][1000 genomes]
rs867595	0.93[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:56 , 50 per page) page: 1 2

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	chr9:72665400-72669600	Weak transcription	Fetal Lung	lung
11	chr9:72665400-72673200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr9:72666800-72670600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr9:72667000-72669200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr9:72667000-72669400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr9:72667000-72669400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr9:72667000-72670200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:72667000-72670600	Enhancers	HMEC	breast
18	chr9:72667200-72669800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:72667200-72670000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:72667200-72670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:72667400-72669200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:72667400-72670600	Genic enhancers	HSMM	muscle
23	chr9:72667600-72669000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:72667600-72670600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:72667600-72688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:72667800-72669000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr9:72667800-72669200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr9:72667800-72670000	Enhancers	HSMMtube	muscle
29	chr9:72667800-72670400	Enhancers	NHEK	skin
30	chr9:72667800-72670600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr9:72668000-72669600	Enhancers	Colon Smooth Muscle	Colon
32	chr9:72668200-72670400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr9:72668400-72669200	Enhancers	NHDF-Ad	bronchial
34	chr9:72668400-72669400	Enhancers	Hela-S3	cervix
35	chr9:72668400-72670000	Enhancers	HUVEC	blood vessel
36	chr9:72668400-72670600	Enhancers	Fetal Muscle Leg	muscle
37	chr9:72668600-72669000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:72668600-72669000	Enhancers	Stomach Smooth Muscle	stomach
39	chr9:72668600-72669000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr9:72668600-72669200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr9:72668600-72669400	Enhancers	Brain Germinal Matrix	brain
42	chr9:72668600-72669600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:72668600-72670000	Enhancers	NH-A	brain
44	chr9:72668600-72670200	Weak transcription	Psoas Muscle	Psoas
45	chr9:72668800-72669000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:72668800-72669200	Enhancers	Osteobl	bone
47	chr9:72668800-72670000	Weak transcription	Aorta	Aorta
48	chr9:72668800-72670200	Weak transcription	Adipose Nuclei	Adipose
49	chr9:72668800-72670200	Weak transcription	Ovary	ovary
50	chr9:72668800-72670200	Weak transcription	Right Atrium	heart

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