Variant report

Variant	rs12115516
Chromosome Location	chr9:94906343-94906344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59731126	0.87[AFR][1000 genomes]
rs7025224	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7045252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7046001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7867529	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv972778	chr9:94902068-94908273	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94903400-94908800	Weak transcription	K562	blood
2	chr9:94903800-94906600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr9:94904000-94908800	Weak transcription	HMEC	breast
4	chr9:94904000-94909400	Weak transcription	Right Atrium	heart
5	chr9:94904200-94908200	Weak transcription	HUVEC	blood vessel
6	chr9:94904200-94908600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:94904200-94908600	Weak transcription	Ovary	ovary
8	chr9:94904200-94908800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr9:94904200-94909000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:94904200-94909000	Weak transcription	Gastric	stomach
11	chr9:94904400-94908200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:94904400-94908400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:94904400-94908800	Weak transcription	NH-A	brain
14	chr9:94904800-94906800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:94904800-94908600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:94904800-94908800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:94905000-94908400	Weak transcription	Fetal Stomach	stomach
18	chr9:94905000-94908400	Weak transcription	NHLF	lung
19	chr9:94905000-94908400	Weak transcription	Osteobl	bone
20	chr9:94905000-94908600	Weak transcription	HSMMtube	muscle
21	chr9:94905200-94908600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:94905400-94908800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:94906000-94906600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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