Variant report

Variant	rs12005328
Chromosome Location	chr9:102939432-102939433
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11998846	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11999065	1.00[AMR][1000 genomes]
rs11999333	1.00[AMR][1000 genomes]
rs11999405	1.00[AMR][1000 genomes]
rs11999759	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11999920	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12000423	1.00[AMR][1000 genomes]
rs12000833	1.00[AMR][1000 genomes]
rs12001165	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12001197	1.00[AMR][1000 genomes]
rs12001218	1.00[AMR][1000 genomes]
rs12001575	1.00[AMR][1000 genomes]
rs12003270	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003337	1.00[AMR][1000 genomes]
rs12003593	1.00[AMR][1000 genomes]
rs12004561	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12005084	1.00[AMR][1000 genomes]
rs12005758	1.00[AMR][1000 genomes]
rs28704948	1.00[AMR][1000 genomes]
rs58290582	1.00[AMR][1000 genomes]
rs58604350	1.00[AMR][1000 genomes]
rs59127855	1.00[AMR][1000 genomes]
rs61163672	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102914600-102940600	Weak transcription	HSMMtube	muscle
2	chr9:102916200-102941400	Weak transcription	HepG2	liver
3	chr9:102930600-102940000	Weak transcription	Pancreas	Pancrea
4	chr9:102931000-102941000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:102932200-102941200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr9:102932600-102939800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:102933400-102942000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:102933600-102941000	Weak transcription	Spleen	Spleen
9	chr9:102934200-102941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr9:102935400-102952000	Weak transcription	Small Intestine	intestine
11	chr9:102936200-102939800	Weak transcription	Psoas Muscle	Psoas
12	chr9:102936200-102941600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:102936400-102940600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:102936400-102941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:102936400-102952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr9:102936600-102939600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:102937000-102940000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:102937000-102940400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:102937200-102940400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:102937400-102939600	Strong transcription	Ovary	ovary
21	chr9:102937400-102939800	Weak transcription	Right Ventricle	heart
22	chr9:102937400-102940600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr9:102937800-102952000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:102938000-102939800	ZNF genes & repeats	Fetal Brain Female	brain
25	chr9:102938000-102940400	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr9:102938200-102941000	Weak transcription	Left Ventricle	heart
27	chr9:102938400-102950600	Weak transcription	Liver	Liver
28	chr9:102938600-102940200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr9:102938600-102940800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:102938800-102940200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:102938800-102940200	ZNF genes & repeats	Fetal Stomach	stomach
32	chr9:102939000-102939600	ZNF genes & repeats	A549	lung
33	chr9:102939000-102939800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:102939000-102940000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr9:102939000-102940000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:102939000-102940400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:102939000-102940600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr9:102939200-102940600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:102939400-102939600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:102939400-102940200	Enhancers	Primary T cells fromperipheralblood	blood

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