Variant report

Variant	rs2758912
Chromosome Location	chr6:39275282-39275283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1182864	0.86[GIH][hapmap]
rs2758909	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2815020	0.81[GIH][hapmap]
rs2815064	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2815066	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4714233	0.86[GIH][hapmap]
rs731419	0.83[AMR][1000 genomes];0.93[EUR][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	nsv830644	chr6:39116530-39325980	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1022974	chr6:39120271-39277553	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv830645	chr6:39227601-39408310	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv533806	chr6:39270073-39397337	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2758912	KCNK17	cis	multi-tissue	Pritchard
rs2758912	TBCC	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:39265600-39280800	Weak transcription	Right Atrium	heart
2	chr6:39271000-39278800	Weak transcription	Fetal Thymus	thymus
3	chr6:39273000-39276400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:39273600-39278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:39275000-39275600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:39275000-39275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:39275200-39275600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

Quick Search:

Input of quick search could be:

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

what's new

Quick links