Variant report

Variant	rs2975869
Chromosome Location	chr9:72708599-72708600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs12000536	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12003723	1.00[EUR][1000 genomes]
rs12004033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12004037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12005031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086970	1.00[EUR][1000 genomes]
rs17088359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1927110	0.92[AFR][1000 genomes]
rs1927111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975875	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975884	0.92[AFR][1000 genomes]
rs2975885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997667	1.00[EUR][1000 genomes]
rs2997683	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2997688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997697	0.89[AFR][1000 genomes]
rs2997698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3015190	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015198	0.92[AFR][1000 genomes]
rs3015199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015203	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015222	1.00[EUR][1000 genomes]
rs58773163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60836347	1.00[EUR][1000 genomes]
rs73449454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73449465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460527	1.00[EUR][1000 genomes]
rs73460530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7862220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv949052	chr9:72698039-72741247	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72694800-72721400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:72695400-72709200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:72696400-72708800	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:72698200-72708800	Weak transcription	Psoas Muscle	Psoas
5	chr9:72698800-72711200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:72699000-72708800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:72703200-72711600	Enhancers	Colon Smooth Muscle	Colon
8	chr9:72704800-72708800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:72705400-72709400	Enhancers	Rectal Smooth Muscle	rectum
10	chr9:72706000-72710200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:72706200-72709000	Weak transcription	HSMM	muscle
12	chr9:72706200-72710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:72706400-72708800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:72706800-72708600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:72706800-72709200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr9:72707200-72709000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr9:72707400-72726800	Weak transcription	Pancreas	Pancrea
18	chr9:72707600-72708800	Weak transcription	Left Ventricle	heart
19	chr9:72707600-72708800	Weak transcription	HSMMtube	muscle
20	chr9:72707800-72708600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:72708200-72708600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr9:72708200-72708800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr9:72708200-72709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:72708400-72709600	Enhancers	Ovary	ovary

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