Variant report

Variant	rs12005139
Chromosome Location	chr9:72627405-72627406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17087199	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17087211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17087224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4323533	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7873680	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv831612	chr9:72473778-72634253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	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
4	nsv1035668	chr9:72555053-72632796	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1051004	chr9:72557761-72632015	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72619800-72627600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:72621200-72635400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr9:72621400-72628800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr9:72621800-72628400	Weak transcription	Osteobl	bone
5	chr9:72622000-72627600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:72622000-72628200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:72622000-72628400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:72623000-72628200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr9:72623400-72627600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:72623400-72627600	Weak transcription	HMEC	breast
11	chr9:72623400-72628200	Weak transcription	NHEK	skin
12	chr9:72625200-72628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:72626000-72628600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:72626200-72627800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:72626200-72627800	Enhancers	Fetal Lung	lung
16	chr9:72626200-72629000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:72626200-72629200	Enhancers	HSMM	muscle
18	chr9:72626400-72628000	Enhancers	Colon Smooth Muscle	Colon
19	chr9:72626400-72629000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:72626400-72629200	Enhancers	NH-A	brain
21	chr9:72626600-72628200	Weak transcription	NHDF-Ad	bronchial
22	chr9:72626600-72628400	Weak transcription	HSMMtube	muscle
23	chr9:72626600-72629200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:72626800-72628200	Weak transcription	NHLF	lung
25	chr9:72626800-72629000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:72627000-72629200	Enhancers	Stomach Smooth Muscle	stomach
27	chr9:72627200-72627800	Enhancers	Ovary	ovary
28	chr9:72627400-72627800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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