Variant report

Variant	rs12683419
Chromosome Location	chr9:8580675-8580676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11788419	0.86[CEU][hapmap];0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs11788439	0.92[CHB][hapmap]
rs11792966	0.92[CHB][hapmap]
rs12344930	0.81[CHB][hapmap]
rs12685150	0.92[CHB][hapmap]
rs13293506	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13294631	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs1361117	0.83[CHB][hapmap]
rs16928175	0.92[CHB][hapmap]
rs16928179	0.92[CHB][hapmap]
rs16928187	0.92[CHB][hapmap]
rs16928206	0.82[CHB][hapmap]
rs1999850	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7020239	0.90[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs7035431	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs9792461	0.92[CHB][hapmap]

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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8574200-8589600	Weak transcription	Brain Anterior Caudate	brain
2	chr9:8576000-8582800	Weak transcription	Fetal Lung	lung
3	chr9:8576600-8613200	Weak transcription	Fetal Brain Female	brain
4	chr9:8578800-8600000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr9:8579200-8581000	Enhancers	Brain Angular Gyrus	brain
6	chr9:8579400-8588000	Weak transcription	Brain Substantia Nigra	brain
7	chr9:8579600-8581000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:8580000-8588000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:8580600-8580800	Enhancers	Brain Hippocampus Middle	brain
10	chr9:8580600-8581000	Enhancers	Brain Cingulate Gyrus	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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