Variant report

Variant	rs6695591
Chromosome Location	chr1:211002232-211002233
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11119576	1.00[CHB][hapmap]
rs1112600	0.97[GIH][hapmap];1.00[ASN][1000 genomes]
rs1112999	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12401745	1.00[ASN][1000 genomes]
rs12759150	1.00[CHB][hapmap]
rs1340125	1.00[CHB][hapmap]
rs17188665	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3905343	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.91[MKK][hapmap];1.00[ASN][1000 genomes]
rs61848965	0.83[ASN][1000 genomes]
rs61848966	0.83[ASN][1000 genomes]
rs61848967	1.00[ASN][1000 genomes]
rs61848972	1.00[ASN][1000 genomes]
rs6658648	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658652	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660844	1.00[ASN][1000 genomes]
rs72755509	1.00[ASN][1000 genomes]
rs7520827	1.00[ASN][1000 genomes]
rs7552646	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[MKK][hapmap];0.83[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	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6695591	KCNH1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210996600-211015000	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:210996800-211002600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:211002000-211002600	Enhancers	HSMMtube	muscle
4	chr1:211002000-211003800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:211002200-211002600	Enhancers	Brain Substantia Nigra	brain
6	chr1:211002200-211002800	Enhancers	A549	lung
7	chr1:211002200-211004400	Enhancers	HSMM	muscle

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