Variant report

Variant	rs4869118
Chromosome Location	chr5:94088858-94088859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1549177	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084024	0.90[AFR][1000 genomes]
rs171659	0.83[JPT][hapmap]
rs185308	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs185310	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs194256	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs255334	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs255335	0.86[CHB][hapmap];0.83[ASN][1000 genomes]
rs255337	0.81[CHB][hapmap]
rs255338	0.81[CHB][hapmap]
rs255340	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs255341	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs255342	0.86[CHB][hapmap]
rs255343	0.90[CHB][hapmap];0.90[CHD][hapmap]
rs255347	0.85[CHB][hapmap]
rs255348	0.90[CHB][hapmap];0.90[CHD][hapmap]
rs255350	0.86[CHB][hapmap]
rs255351	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs255352	0.81[CHB][hapmap]
rs255353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs255371	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs255373	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs255374	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs255375	0.81[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255376	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7706425	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711390	0.82[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4869118	MCTP1	Cis_1M	lymphoblastoid	RTeQTL
rs4869118	MCTP1	cis	normal skin	skin_eQTL
rs4869118	MCTP1	cis	lesional skin	skin_eQTL
rs4869118	FAM81B	cis	cerebellum	SCAN
rs4869118	C5orf36	cis	cerebellum	SCAN
rs4869118	MCTP1	cis	lymphoblastoid	seeQTL
rs4869118	MCTP1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94074200-94127600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:94083000-94108000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr5:94083000-94125800	Weak transcription	HUVEC	blood vessel
4	chr5:94085000-94090400	Weak transcription	Hela-S3	cervix
5	chr5:94085200-94105800	Weak transcription	Fetal Thymus	thymus
6	chr5:94086200-94101800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:94087400-94100400	Weak transcription	Spleen	Spleen
8	chr5:94088000-94089600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:94088600-94090000	Enhancers	Primary neutrophils fromperipheralblood	blood

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