Variant report

Variant	rs2997665
Chromosome Location	chr9:72677171-72677172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11141566	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11141672	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11141697	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12349576	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12352964	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1927104	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1927107	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28462281	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2997657	0.88[ASN][1000 genomes]
rs3015234	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3015237	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015239	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4237238	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237239	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4237240	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4367620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744586	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4744972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4744979	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744981	0.84[ASN][1000 genomes]
rs6559970	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7035878	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7045153	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs755778	0.87[ASN][1000 genomes]
rs7853094	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[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:26 , 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	chr9:72674200-72679400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:72674600-72677600	Genic enhancers	HSMMtube	muscle
12	chr9:72675000-72677600	Enhancers	NHDF-Ad	bronchial
13	chr9:72675000-72680600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:72675800-72677400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:72675800-72678400	Genic enhancers	Colon Smooth Muscle	Colon
16	chr9:72676000-72678200	Weak transcription	HMEC	breast
17	chr9:72676200-72677600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:72676400-72677400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:72676600-72694000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:72676800-72688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr9:72676800-72688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:72677000-72677600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:72677000-72678600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:72677000-72681000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr9:72677000-72684400	Weak transcription	HSMM	muscle
26	chr9:72677000-72689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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