Variant report

Variant	rs17239323
Chromosome Location	chr9:117758092-117758093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10117421	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12336431	1.00[ASN][1000 genomes]
rs12342978	1.00[ASN][1000 genomes]
rs1330361	1.00[CHB][hapmap]
rs1537011	1.00[CHB][hapmap]
rs17241078	1.00[CHB][hapmap]
rs17241442	1.00[CHB][hapmap]
rs17241477	1.00[CHB][hapmap]
rs17817489	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17819299	1.00[CHB][hapmap]
rs17819466	1.00[CHB][hapmap]
rs2150101	1.00[CHB][hapmap]
rs4549855	1.00[CHB][hapmap]
rs56961588	1.00[ASN][1000 genomes]
rs57398199	1.00[ASN][1000 genomes]
rs62578723	0.90[EUR][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	nsv831696	chr9:117701582-117874150	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17239323	ASTN2	cis	parietal	SCAN
rs17239323	AUTS2	trans	lymphoblastoid	seeQTL
rs17239323	PAPPA	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117753000-117758600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:117753200-117759000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:117753800-117762200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr9:117756200-117759600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:117756800-117759800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr9:117757200-117762200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:117757400-117758200	Enhancers	Primary B cells from cord blood	blood
8	chr9:117757600-117758200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr9:117757600-117758400	Enhancers	Fetal Heart	heart
10	chr9:117757800-117758600	Enhancers	Pancreas	Pancrea
11	chr9:117757800-117758600	Enhancers	Spleen	Spleen
12	chr9:117757800-117759000	Enhancers	Stomach Mucosa	stomach

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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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