Variant report

Variant	rs12004037
Chromosome Location	chr9:72669937-72669938
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

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]
rs12005031	0.86[AFR][1000 genomes];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]
rs1927111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975876	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997667	1.00[EUR][1000 genomes]
rs2997683	1.00[EUR][1000 genomes]
rs2997688	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997692	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997698	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2997706	1.00[AMR][1000 genomes]
rs3015190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015191	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015197	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015201	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015206	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3015215	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	0.81[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460527	1.00[EUR][1000 genomes]
rs73460530	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73650530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7862220	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:48 , 50 per page) page: 1

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	chr9:72665000-72670200	Weak transcription	Lung	lung
7	chr9:72665200-72670200	Weak transcription	Fetal Stomach	stomach
8	chr9:72665200-72673600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:72665400-72673200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:72666800-72670600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:72667000-72670200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:72667000-72670600	Enhancers	HMEC	breast
13	chr9:72667200-72670000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr9:72667200-72670400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:72667400-72670600	Genic enhancers	HSMM	muscle
16	chr9:72667600-72670600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:72667600-72688400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:72667800-72670000	Enhancers	HSMMtube	muscle
19	chr9:72667800-72670400	Enhancers	NHEK	skin
20	chr9:72667800-72670600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:72668200-72670400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr9:72668400-72670000	Enhancers	HUVEC	blood vessel
23	chr9:72668400-72670600	Enhancers	Fetal Muscle Leg	muscle
24	chr9:72668600-72670000	Enhancers	NH-A	brain
25	chr9:72668600-72670200	Weak transcription	Psoas Muscle	Psoas
26	chr9:72668800-72670000	Weak transcription	Aorta	Aorta
27	chr9:72668800-72670200	Weak transcription	Adipose Nuclei	Adipose
28	chr9:72668800-72670200	Weak transcription	Ovary	ovary
29	chr9:72668800-72670200	Weak transcription	Right Atrium	heart
30	chr9:72668800-72671400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:72668800-72671600	Weak transcription	Pancreas	Pancrea
32	chr9:72668800-72671600	Weak transcription	Spleen	Spleen
33	chr9:72668800-72675800	Enhancers	Rectal Smooth Muscle	rectum
34	chr9:72668800-72676600	Weak transcription	Gastric	stomach
35	chr9:72668800-72681400	Weak transcription	Esophagus	oesophagus
36	chr9:72669000-72670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr9:72669200-72670200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:72669200-72670200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:72669200-72675000	Weak transcription	NHDF-Ad	bronchial
40	chr9:72669200-72682600	Weak transcription	Osteobl	bone
41	chr9:72669400-72670400	Weak transcription	Hela-S3	cervix
42	chr9:72669400-72670400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr9:72669600-72670000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:72669600-72671000	Enhancers	Fetal Lung	lung
45	chr9:72669600-72671200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:72669800-72670000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:72669800-72670200	Enhancers	Colon Smooth Muscle	Colon
48	chr9:72669800-72671200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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