Variant report

Variant	rs2249665
Chromosome Location	chr1:47687084-47687085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1008455	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11211508	0.80[MEX][hapmap]
rs2181222	0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs2181223	0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2249636	0.82[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2250380	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250495	0.81[ASN][1000 genomes]
rs2273834	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2758742	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2798349	0.95[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2798355	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2821086	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3088062	0.90[MEX][hapmap]
rs4600090	0.90[MEX][hapmap]
rs6690084	0.90[MEX][hapmap]
rs741958	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7532148	0.80[MEX][hapmap]
rs765862	0.83[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2249665	PDZK1IP1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47674400-47690600	Weak transcription	Gastric	stomach
2	chr1:47679200-47689400	Weak transcription	Lung	lung
3	chr1:47679600-47689000	Weak transcription	Right Atrium	heart
4	chr1:47681800-47689600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:47683600-47690000	Strong transcription	K562	blood
6	chr1:47683800-47690000	Strong transcription	HUVEC	blood vessel
7	chr1:47684600-47687400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:47684800-47687800	Strong transcription	Spleen	Spleen
9	chr1:47685000-47688000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:47685800-47687600	Strong transcription	Primary hematopoietic stem cells	blood
11	chr1:47686400-47690600	Weak transcription	Right Ventricle	heart
12	chr1:47687000-47687600	Strong transcription	Adipose Nuclei	Adipose

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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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