Variant report

Variant	rs475930
Chromosome Location	chr6:82159696-82159697
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs492866	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs499440	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55914729	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604087	chr6:81792413-82326091	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1032655	chr6:81942397-82225830	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv34899	chr6:82090758-82161121	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv2757183	chr6:82098060-82161121	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	esv2759450	chr6:82098060-82161121	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv7935	chr6:82136511-82174968	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3475143	chr6:82144215-82179186	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3475144	chr6:82144215-82179186	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv442004	chr6:82147124-82171606	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv823765	chr6:82152910-82174129	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv2756172	chr6:82155881-82161081	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a
12	nsv432937	chr6:82155881-82161081	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs475930	IBTK	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82157800-82160000	Weak transcription	Stomach Mucosa	stomach
2	chr6:82159200-82162400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:82159400-82159800	Weak transcription	Hela-S3	cervix
4	chr6:82159400-82162000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:82159600-82160800	Enhancers	Osteobl	bone
6	chr6:82159600-82162000	Enhancers	NHDF-Ad	bronchial
7	chr6:82159600-82162200	Enhancers	Pancreatic Islets	Pancreatic Islet

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