Variant report

Variant	rs255375
Chromosome Location	chr5:94111315-94111316
allele	A/C
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	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.82[TSI][hapmap];0.97[ASN][1000 genomes]
rs17084024	0.83[AFR][1000 genomes]
rs171659	0.83[JPT][hapmap]
rs185308	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs185310	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs194256	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs255334	0.89[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.97[ASN][1000 genomes]
rs255335	0.80[CHB][hapmap]
rs255337	0.86[CHB][hapmap]
rs255338	0.86[CHB][hapmap]
rs255340	0.86[CHB][hapmap];0.93[CHD][hapmap]
rs255341	0.90[CHB][hapmap];0.95[CHD][hapmap]
rs255342	0.80[CHB][hapmap]
rs255343	0.85[CHB][hapmap];0.93[CHD][hapmap]
rs255348	0.85[CHB][hapmap];0.92[CHD][hapmap]
rs255349	0.80[ASN][1000 genomes]
rs255350	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs255351	0.90[CHB][hapmap];0.93[CHD][hapmap];0.80[ASN][1000 genomes]
rs255352	0.86[CHB][hapmap]
rs255353	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs255371	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255373	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs255374	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs255376	0.80[CHB][hapmap];0.81[ASN][1000 genomes]
rs4869118	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]
rs7706425	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7711390	0.81[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs255375	MCTP1	cis	normal skin	skin_eQTL
rs255375	MCTP1	cis	multi-tissue	Pritchard
rs255375	FAM81B	cis	cerebellum	SCAN
rs255375	C5orf36	cis	cerebellum	SCAN
rs255375	MCTP1	cis	uninvolved skin	skin_eQTL
rs255375	ANKRD32	cis	multi-tissue	Pritchard
rs255375	MCTP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:21 , 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	chr5:94083000-94125800	Weak transcription	HUVEC	blood vessel
3	chr5:94097800-94128400	Weak transcription	Primary T cells from cord blood	blood
4	chr5:94102200-94128000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:94102600-94111800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:94104800-94128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:94105200-94127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:94106000-94126000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:94106000-94126000	Weak transcription	Lung	lung
10	chr5:94106400-94128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:94109800-94114800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:94110000-94115000	Strong transcription	Fetal Thymus	thymus
13	chr5:94110400-94113000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr5:94110600-94112000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:94110800-94112200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:94110800-94113600	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:94111000-94111400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:94111000-94111400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:94111000-94112000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:94111000-94112200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:94111000-94112600	Enhancers	NHDF-Ad	bronchial

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