Variant report

Variant	rs2188084
Chromosome Location	chr9:118610805-118610806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10817846	1.00[CHB][hapmap]
rs10982928	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10982932	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10982933	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10982959	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10982964	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10982990	1.00[CHB][hapmap]
rs10982999	1.00[CHB][hapmap]
rs10983006	1.00[CHB][hapmap]
rs2900615	1.00[CHB][hapmap]
rs4549856	1.00[CHB][hapmap]
rs4978655	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4979591	1.00[CHB][hapmap]
rs9408881	1.00[CHB][hapmap]
rs9792445	0.82[AMR][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	nsv948346	chr9:118107565-118718197	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1046948	chr9:118185587-118926891	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv916622	chr9:118206309-118952390	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv540207	chr9:118206311-118920304	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv491661	chr9:118206312-118802177	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv831699	chr9:118457011-118641819	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 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	chr9:118608200-118611000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr9:118608400-118617600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:118608600-118612600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:118608600-118613400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr9:118608800-118612200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:118608800-118613200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:118609000-118612800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:118609800-118612800	Weak transcription	NHEK	skin
9	chr9:118610000-118611600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr9:118610000-118612000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:118610000-118612200	Weak transcription	HMEC	breast
12	chr9:118610000-118612400	Weak transcription	NHLF	lung
13	chr9:118610000-118613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:118610200-118611200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:118610200-118611200	Weak transcription	NHDF-Ad	bronchial
16	chr9:118610200-118612200	Weak transcription	HSMM	muscle
17	chr9:118610200-118613200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr9:118610200-118613200	Weak transcription	NH-A	brain
19	chr9:118610200-118617600	Weak transcription	A549	lung
20	chr9:118610400-118611400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:118610400-118612200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:118610800-118611400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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