Variant report

Variant	rs2790743
Chromosome Location	chr1:222113294-222113295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11802865	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12058838	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12066449	0.80[ASN][1000 genomes]
rs17442148	0.90[JPT][hapmap]
rs2153350	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2153351	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2257300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2378500	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2790753	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2790760	0.94[ASN][1000 genomes]
rs2800847	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2800851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2800852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3010843	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3124673	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6685081	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7554115	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2790743	EPRS	cis	cerebellum	SCAN
rs2790743	HHIPL2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222095400-222117800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:222098000-222118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:222111800-222114400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:222112000-222114400	Enhancers	Primary B cells from cord blood	blood
5	chr1:222112200-222114600	Enhancers	Fetal Brain Male	brain
6	chr1:222112200-222114600	Enhancers	GM12878-XiMat	blood
7	chr1:222112400-222113400	Enhancers	Adipose Nuclei	Adipose
8	chr1:222112600-222113400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:222112600-222113400	Enhancers	Fetal Thymus	thymus
10	chr1:222112600-222113600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:222112600-222113800	Enhancers	Fetal Brain Female	brain
12	chr1:222112800-222113600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:222112800-222114200	Enhancers	HSMM	muscle
14	chr1:222113000-222114200	Enhancers	Dnd41	blood
15	chr1:222113200-222113800	Weak transcription	HSMMtube	muscle

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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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