Variant report

Variant	rs944689
Chromosome Location	chr9:101366538-101366539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1889059	0.84[ASW][hapmap]
rs1930141	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1999501	0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs2151075	0.81[CHB][hapmap]
rs2151216	0.82[ASW][hapmap];1.00[LWK][hapmap];0.86[MKK][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes]
rs2258938	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2779536	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[MKK][hapmap];0.88[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2808541	0.82[ASW][hapmap];0.93[LWK][hapmap];0.83[YRI][hapmap];0.91[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	nsv831665	chr9:101170061-101367692	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv466440	chr9:101355624-101368008	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv614951	chr9:101355624-101368008	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv466441	chr9:101362833-101419832	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv614952	chr9:101362833-101419832	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101364400-101371600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:101364800-101367800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:101365000-101367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:101365000-101367200	Enhancers	Brain Cingulate Gyrus	brain
5	chr9:101365400-101386800	Weak transcription	Brain Angular Gyrus	brain
6	chr9:101365600-101367000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr9:101365600-101367800	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:101365600-101369200	Weak transcription	HUVEC	blood vessel
9	chr9:101365800-101366800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:101366000-101366600	Weak transcription	Right Atrium	heart
11	chr9:101366000-101367200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:101366000-101367200	Weak transcription	Lung	lung
13	chr9:101366200-101366800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr9:101366200-101367200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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