Variant report

Variant	rs2997668
Chromosome Location	chr9:72679678-72679679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10511979	0.89[ASN][1000 genomes]
rs1073540	1.00[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs1112232	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1180101	0.92[CHB][hapmap]
rs1180102	0.92[CHB][hapmap]
rs12002407	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12003971	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12683986	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12685632	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12685937	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685939	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12686383	0.92[ASN][1000 genomes]
rs12686668	0.94[ASN][1000 genomes]
rs17087686	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17523363	0.98[ASN][1000 genomes]
rs1927105	0.91[ASN][1000 genomes]
rs1927110	0.91[ASN][1000 genomes]
rs1927148	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs1927150	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs1986412	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2001235	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2296772	0.86[ASN][1000 genomes]
rs2296773	0.86[ASN][1000 genomes]
rs2309584	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2975866	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2975867	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2975868	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2975880	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2975884	0.91[ASN][1000 genomes]
rs2975911	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2997667	0.93[AFR][1000 genomes]
rs2997679	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2997681	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2997714	0.91[ASN][1000 genomes]
rs3015165	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3015169	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3015170	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3015171	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3015173	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015174	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3015175	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3015177	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3015180	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3015181	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3015182	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3015184	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3015185	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3015186	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3015189	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3015198	0.91[ASN][1000 genomes]
rs3015204	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3015207	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3015213	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3015223	0.88[ASN][1000 genomes]
rs3829096	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4289878	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4460447	0.91[ASN][1000 genomes]
rs4495496	0.86[ASN][1000 genomes]
rs4744994	0.92[CHB][hapmap]
rs58085049	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58660710	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61416419	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7034322	0.92[CHB][hapmap]
rs716535	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs72709197	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72709200	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72710469	0.96[ASN][1000 genomes]
rs72710483	0.92[ASN][1000 genomes]
rs745852	0.91[ASN][1000 genomes]
rs867595	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs943540	0.92[CHB][hapmap];0.86[JPT][hapmap]

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:22 , 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	chr9:72668800-72681400	Weak transcription	Esophagus	oesophagus
3	chr9:72669200-72682600	Weak transcription	Osteobl	bone
4	chr9:72670000-72688400	Weak transcription	NH-A	brain
5	chr9:72672400-72680200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:72672400-72681400	Weak transcription	Ovary	ovary
7	chr9:72674000-72680600	Weak transcription	Adipose Nuclei	Adipose
8	chr9:72674000-72682800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:72674000-72684400	Weak transcription	Fetal Stomach	stomach
10	chr9:72675000-72680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:72676600-72694000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:72676800-72688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr9:72676800-72688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:72677000-72681000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:72677000-72684400	Weak transcription	HSMM	muscle
16	chr9:72677000-72689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr9:72677600-72684600	Weak transcription	HSMMtube	muscle
18	chr9:72677600-72694000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:72678400-72680000	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:72678400-72680600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:72679200-72679800	Enhancers	Rectal Smooth Muscle	rectum
22	chr9:72679400-72680800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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