Variant report

Variant	rs16929788
Chromosome Location	chr9:12882396-12882397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12344174	0.87[EUR][1000 genomes]
rs13284880	0.93[EUR][1000 genomes]
rs13286083	0.87[EUR][1000 genomes]
rs13295684	0.93[EUR][1000 genomes]
rs13297021	0.93[EUR][1000 genomes]
rs13299801	0.93[EUR][1000 genomes]
rs13300480	0.81[EUR][1000 genomes]
rs13301620	0.81[EUR][1000 genomes]
rs1412308	0.93[EUR][1000 genomes]
rs16929764	0.93[EUR][1000 genomes]
rs16929768	0.93[EUR][1000 genomes]
rs1831561	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34040994	0.93[EUR][1000 genomes]
rs34086294	0.87[EUR][1000 genomes]
rs34297034	0.93[EUR][1000 genomes]
rs34660175	0.93[EUR][1000 genomes]
rs35253144	0.88[EUR][1000 genomes]
rs35313919	0.87[EUR][1000 genomes]
rs35685701	0.93[EUR][1000 genomes]
rs35696782	0.93[EUR][1000 genomes]
rs35858006	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36050768	0.87[EUR][1000 genomes]
rs36080084	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36196009	0.87[EUR][1000 genomes]
rs71507337	0.87[EUR][1000 genomes]
rs71507342	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978929	0.83[AFR][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	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv892574	chr9:12754969-12918226	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv613615	chr9:12830070-12947238	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12875200-12884800	Weak transcription	HMEC	breast
2	chr9:12878000-12883000	Enhancers	A549	lung
3	chr9:12879000-12884800	Weak transcription	Liver	Liver
4	chr9:12879000-12884800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:12880000-12883800	Enhancers	NHLF	lung
6	chr9:12880000-12884200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:12880200-12883800	Enhancers	NHDF-Ad	bronchial
8	chr9:12880400-12884000	Enhancers	Osteobl	bone
9	chr9:12881000-12884800	Weak transcription	Fetal Kidney	kidney
10	chr9:12881000-12899200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:12881200-12882600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:12881200-12884800	Weak transcription	Fetal Intestine Small	intestine
13	chr9:12881200-12891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:12881600-12882400	Weak transcription	Fetal Lung	lung
15	chr9:12881600-12884600	Weak transcription	Stomach Mucosa	stomach
16	chr9:12881800-12882600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:12881800-12882600	Enhancers	Fetal Muscle Leg	muscle
18	chr9:12881800-12882800	Enhancers	Fetal Stomach	stomach
19	chr9:12881800-12883000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr9:12882000-12882600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr9:12882000-12882600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:12882000-12882800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:12882000-12882800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:12882000-12883000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:12882000-12884000	Enhancers	Hela-S3	cervix
26	chr9:12882200-12882400	Enhancers	Adipose Nuclei	Adipose
27	chr9:12882200-12882600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:12882200-12882600	Active TSS	Aorta	Aorta
29	chr9:12882200-12882600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr9:12882200-12882800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:12882200-12882800	Enhancers	NH-A	brain
32	chr9:12882200-12883600	Enhancers	Colon Smooth Muscle	Colon
33	chr9:12882200-12883800	Enhancers	HSMMtube	muscle

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