Variant report

Variant	rs386305
Chromosome Location	chr6:37194911-37194912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1150788	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs1150789	0.80[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs1224330	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1564501	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1976009	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs386305	ITPR3	cis	cerebellum	SCAN
rs386305	ANKS1A	cis	cerebellum	SCAN
rs386305	SPDEF	cis	parietal	SCAN
rs386305	KCTD20	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37191200-37199800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:37191400-37196800	Weak transcription	HepG2	liver
3	chr6:37191400-37207400	Weak transcription	Dnd41	blood
4	chr6:37191400-37207600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:37194000-37197600	Weak transcription	K562	blood

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

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