Variant report

Variant	rs2997675
Chromosome Location	chr9:72684880-72684881
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17088691	0.89[ASN][1000 genomes]
rs1927149	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2975863	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2975920	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2997674	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2997680	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2997685	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3015188	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7019336	0.89[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:30 , 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	chr9:72670000-72688400	Weak transcription	NH-A	brain
3	chr9:72676600-72694000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr9:72676800-72688200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:72676800-72688400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr9:72677000-72689000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr9:72677600-72694000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:72680000-72689200	Enhancers	Colon Smooth Muscle	Colon
9	chr9:72681000-72687600	Enhancers	Rectal Smooth Muscle	rectum
10	chr9:72681400-72685000	Weak transcription	Small Intestine	intestine
11	chr9:72682000-72685000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:72683400-72685200	Enhancers	Psoas Muscle	Psoas
13	chr9:72683400-72686600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:72683400-72688000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:72683400-72688200	Weak transcription	Osteobl	bone
16	chr9:72683800-72685200	Enhancers	Ovary	ovary
17	chr9:72684000-72685200	Enhancers	Right Atrium	heart
18	chr9:72684400-72685000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:72684400-72685000	Enhancers	HSMM	muscle
20	chr9:72684600-72685000	Weak transcription	Fetal Stomach	stomach
21	chr9:72684600-72685200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr9:72684600-72685200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr9:72684800-72685000	Enhancers	Left Ventricle	heart
24	chr9:72684800-72685200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:72684800-72685200	Enhancers	Aorta	Aorta
26	chr9:72684800-72685200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr9:72684800-72685200	Genic enhancers	HSMMtube	muscle
28	chr9:72684800-72685400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr9:72684800-72685800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:72684800-72694000	Weak transcription	Adipose Nuclei	Adipose

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