Variant report

Variant	rs255367
Chromosome Location	chr5:94174183-94174184
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94167988..94169723-chr5:94173484..94175826,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10059576	0.94[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1027741	0.94[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs11135413	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs12152973	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs12152974	0.94[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs12518668	0.94[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs12653136	0.94[CHB][hapmap];0.88[ASN][1000 genomes]
rs12657029	0.88[ASN][1000 genomes]
rs149198	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs153847	0.94[CHB][hapmap];0.94[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.82[ASN][1000 genomes]
rs153900	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs159602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17084077	0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs17084091	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs17084157	0.89[CHB][hapmap]
rs255212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs255214	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs255341	0.87[JPT][hapmap]
rs255343	0.87[JPT][hapmap]
rs255348	0.87[JPT][hapmap]
rs255350	0.87[JPT][hapmap]
rs255351	0.87[JPT][hapmap]
rs35448590	0.88[ASN][1000 genomes]
rs35749798	0.84[ASN][1000 genomes]
rs36014084	0.88[ASN][1000 genomes]
rs4143487	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.97[ASN][1000 genomes]
rs566805	0.86[ASN][1000 genomes]
rs568600	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.85[ASN][1000 genomes]
rs58312534	0.86[ASN][1000 genomes]
rs6871880	0.88[ASN][1000 genomes]
rs718184	0.89[CHB][hapmap];0.94[CHD][hapmap];0.89[LWK][hapmap];0.85[ASN][1000 genomes]
rs73776909	0.83[ASN][1000 genomes]
rs73776910	0.83[ASN][1000 genomes]
rs7706606	0.94[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs7707642	0.94[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs7727729	0.94[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv823144	chr5:94172237-94212534	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs255367	MCTP1	cis	lymphoblastoid	seeQTL
rs255367	C5orf36	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94130400-94192400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr5:94162400-94184800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr5:94163400-94182600	Weak transcription	Brain Anterior Caudate	brain
4	chr5:94163800-94209800	Weak transcription	Dnd41	blood
5	chr5:94164000-94185800	Weak transcription	Primary T cells from cord blood	blood
6	chr5:94165000-94240800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:94165200-94183400	Weak transcription	Lung	lung
8	chr5:94165400-94185600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:94165600-94182200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:94165800-94182400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:94165800-94183400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:94165800-94206200	Weak transcription	Adipose Nuclei	Adipose
13	chr5:94168800-94176800	Weak transcription	Thymus	Thymus
14	chr5:94169200-94185800	Weak transcription	Fetal Brain Female	brain
15	chr5:94170200-94182600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:94170400-94174600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:94170600-94187400	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:94170800-94185200	Weak transcription	Fetal Brain Male	brain
19	chr5:94171600-94185200	Weak transcription	Left Ventricle	heart
20	chr5:94172800-94174600	Strong transcription	HUVEC	blood vessel
21	chr5:94173000-94189000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:94173200-94178000	Enhancers	Fetal Thymus	thymus
23	chr5:94173800-94179400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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