Variant report

Variant	rs12685078
Chromosome Location	chr9:16846636-16846637
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10481508	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12682783	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12683636	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12685962	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13291000	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1339549	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34296299	0.82[ASN][1000 genomes]
rs35066453	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35336333	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36084473	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7019267	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7031867	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7038494	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][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	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892651	chr9:16816755-16869240	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv892652	chr9:16843128-16958312	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16829200-16852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:16829800-16864200	Weak transcription	NH-A	brain
3	chr9:16831000-16859600	Weak transcription	HSMM	muscle
4	chr9:16831200-16852600	Weak transcription	Fetal Lung	lung
5	chr9:16831200-16863400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:16831200-16864400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:16833800-16863800	Weak transcription	NHLF	lung
8	chr9:16834600-16852600	Weak transcription	Fetal Stomach	stomach
9	chr9:16835200-16848400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:16836200-16864400	Weak transcription	NHDF-Ad	bronchial
11	chr9:16838800-16852000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:16840400-16852000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr9:16840600-16849400	Weak transcription	Ovary	ovary
14	chr9:16841000-16848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:16842200-16852000	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:16843000-16853200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:16843400-16850600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:16845200-16849600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:16846000-16851200	Weak transcription	Fetal Muscle Leg	muscle
20	chr9:16846600-16848200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:16846600-16852000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:16846600-16852800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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