Variant report

Variant	rs17765605
Chromosome Location	chr14:70643804-70643805
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10483825	0.82[MEX][hapmap]
rs11158839	1.00[MEX][hapmap]
rs1122708	1.00[MEX][hapmap]
rs11850592	0.82[MEX][hapmap]
rs12147147	1.00[MEX][hapmap]
rs12147341	1.00[MEX][hapmap]
rs12147621	1.00[MEX][hapmap]
rs17107920	0.82[MEX][hapmap]
rs17107925	0.82[MEX][hapmap]
rs17175527	1.00[MEX][hapmap]
rs17765251	1.00[MEX][hapmap]
rs17765370	1.00[MEX][hapmap]
rs17765575	1.00[MEX][hapmap]
rs61978205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7144377	1.00[MEX][hapmap]
rs715307	1.00[MEX][hapmap]
rs999618	0.82[MEX][hapmap]

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	nsv832826	chr14:70559589-70723464	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17765605	INPP5B	trans	cerebellum	SCAN
rs17765605	PCDHGC5	trans	cerebellum	SCAN
rs17765605	ADAM20	cis	cerebellum	SCAN
rs17765605	RBM25	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70639400-70644800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:70639600-70644200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:70641600-70645600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr14:70641800-70644400	Weak transcription	Psoas Muscle	Psoas
5	chr14:70641800-70645600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:70642800-70645200	Enhancers	Fetal Brain Male	brain
7	chr14:70643200-70645000	Enhancers	Fetal Brain Female	brain
8	chr14:70643200-70647600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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

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