Variant report

Variant	rs12209865
Chromosome Location	chr6:12175433-12175434
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10755704	0.92[ASN][1000 genomes]
rs10755705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10807210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10947826	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1111404	0.93[ASN][1000 genomes]
rs12199790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs219965	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62386834	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9380878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9394605	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9394618	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12161400-12175800	Weak transcription	Brain Substantia Nigra	brain
2	chr6:12164600-12175800	Weak transcription	HSMMtube	muscle
3	chr6:12164600-12176000	Weak transcription	Gastric	stomach
4	chr6:12164800-12179800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:12164800-12180200	Weak transcription	Brain Hippocampus Middle	brain
6	chr6:12164800-12185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:12171200-12176200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:12172200-12176000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:12172400-12176000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:12174800-12175600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:12174800-12175800	Enhancers	NHEK	skin
12	chr6:12174800-12176000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:12174800-12176200	Enhancers	A549	lung
14	chr6:12174800-12176200	Enhancers	HMEC	breast
15	chr6:12175000-12175800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:12175000-12175800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:12175000-12175800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:12175000-12176400	Enhancers	NHLF	lung
19	chr6:12175200-12175600	Enhancers	HSMM	muscle

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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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