Variant report

Variant	rs10947409
Chromosome Location	chr6:33515191-33515192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10807126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11968218	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214883	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs210157	0.90[ASN][1000 genomes]
rs3846855	0.81[ASN][1000 genomes]
rs5745568	0.86[ASN][1000 genomes]
rs5745582	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs5745587	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6914422	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6918046	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9296095	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9357161	0.86[ASN][1000 genomes]
rs9366824	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380371	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv2763548	chr6:33496201-33524779	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10947409	BAK1	cis	Whole Blood	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33511200-33515400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:33512000-33516000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:33513200-33515800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:33514000-33519800	Enhancers	Placenta	Placenta
5	chr6:33514600-33516200	Enhancers	Fetal Thymus	thymus
6	chr6:33514600-33516800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr6:33514800-33516200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:33515000-33515600	Enhancers	K562	blood
9	chr6:33515000-33516600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:33515000-33516600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:33515000-33516800	Enhancers	Primary T cells fromperipheralblood	blood

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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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