Variant report

Variant	rs12336618
Chromosome Location	chr9:79372625-79372626
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:12)

rs_ID	r²[population]
rs10217562	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11145042	1.00[AMR][1000 genomes]
rs11145052	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11145065	1.00[AMR][1000 genomes]
rs12006237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12335660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12336582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12344115	1.00[AMR][1000 genomes]
rs12345844	1.00[AMR][1000 genomes]
rs12351780	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5003618	1.00[AMR][1000 genomes]
rs9886893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1040363	chr9:79246366-79711737	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758190	chr9:79365865-79673907	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759697	chr9:79365865-79673907	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79361200-79396600	Weak transcription	Aorta	Aorta
2	chr9:79364600-79387000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:79364800-79373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr9:79364800-79374800	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:79370200-79372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:79370200-79375800	Enhancers	Primary B cells from cord blood	blood
7	chr9:79370400-79372800	Enhancers	Brain Germinal Matrix	brain
8	chr9:79370600-79376600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:79370800-79376800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:79371000-79376400	Enhancers	Primary B cells from peripheral blood	blood
11	chr9:79371200-79373400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:79371600-79372800	Enhancers	GM12878-XiMat	blood
13	chr9:79371600-79374000	Weak transcription	HSMM	muscle
14	chr9:79371600-79376800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:79371600-79400200	Weak transcription	HSMMtube	muscle
16	chr9:79371800-79374400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr9:79372400-79393000	Weak transcription	Brain Substantia Nigra	brain
18	chr9:79372600-79373800	Weak transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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