Variant report

Variant	rs12344930
Chromosome Location	chr9:8577801-8577802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10114754	0.94[EUR][1000 genomes]
rs10511500	0.84[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap]
rs10815916	0.89[CEU][hapmap]
rs10977208	0.87[EUR][1000 genomes]
rs10977210	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs11788419	0.90[CHB][hapmap]
rs11788439	0.90[CHB][hapmap]
rs11790493	0.93[EUR][1000 genomes]
rs11792966	0.90[CHB][hapmap]
rs12348902	0.83[EUR][1000 genomes]
rs12683419	0.81[CHB][hapmap]
rs12684099	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13294631	0.81[CHB][hapmap]
rs1337811	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1415721	0.81[EUR][1000 genomes]
rs1999850	0.81[CHB][hapmap]
rs35863032	0.93[EUR][1000 genomes]
rs4742524	0.93[EUR][1000 genomes]
rs7020239	0.81[CHB][hapmap]
rs7020647	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7023351	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7031249	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7035431	0.81[CHB][hapmap]
rs7041530	0.84[EUR][1000 genomes]
rs7043200	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7048272	1.00[CEU][hapmap];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv831504	chr9:8496277-8665773	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1026208	chr9:8534915-8595338	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv892230	chr9:8569186-8643259	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv892231	chr9:8569186-8659757	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv969781	chr9:8570039-8591459	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv613291	chr9:8573166-8615045	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8572000-8579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:8574200-8589600	Weak transcription	Brain Anterior Caudate	brain
3	chr9:8575800-8578800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr9:8576000-8582800	Weak transcription	Fetal Lung	lung
5	chr9:8576600-8613200	Weak transcription	Fetal Brain Female	brain
6	chr9:8577200-8578000	Weak transcription	Brain Hippocampus Middle	brain
7	chr9:8577200-8578600	Weak transcription	Brain Angular Gyrus	brain
8	chr9:8577200-8580600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:8577800-8578000	Enhancers	Brain Substantia Nigra	brain

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