Variant report

Variant	rs185308
Chromosome Location	chr5:94123108-94123109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr5:94122938-94123276	K562	blood:	n/a	n/a
2	ATF1	chr5:94123106-94123300	K562	blood:	n/a	n/a
3	TAL1	chr5:94123031-94123179	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:94116573..94118173-chr5:94121053..94123346,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249175	TF binding region
MCTP1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1549177	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs171659	0.83[JPT][hapmap]
rs185310	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.99[ASN][1000 genomes]
rs194256	0.81[CHB][hapmap];0.93[CHD][hapmap]
rs255334	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs255335	0.86[CHB][hapmap]
rs255337	0.81[CHB][hapmap]
rs255338	0.81[CHB][hapmap]
rs255340	0.81[CHB][hapmap];0.93[CHD][hapmap]
rs255341	0.86[CHB][hapmap];0.95[CHD][hapmap]
rs255342	0.86[CHB][hapmap]
rs255343	0.90[CHB][hapmap];0.97[CHD][hapmap]
rs255347	0.85[CHB][hapmap]
rs255348	0.90[CHB][hapmap];0.97[CHD][hapmap]
rs255349	0.84[ASN][1000 genomes]
rs255350	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs255351	0.86[CHB][hapmap];0.97[CHD][hapmap];0.84[ASN][1000 genomes]
rs255352	0.81[CHB][hapmap]
rs255353	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs255371	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs255373	0.98[ASN][1000 genomes]
rs255374	0.90[ASN][1000 genomes]
rs255375	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs255376	0.86[CHB][hapmap]
rs4869118	1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7706425	0.94[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs185308	C5orf36	cis	cerebellum	SCAN
rs185308	FAM81B	cis	cerebellum	SCAN
rs185308	MCTP1	cis	lymphoblastoid	seeQTL
rs185308	MCTP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 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	chr5:94104800-94128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:94105200-94127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:94106000-94126000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:94106000-94126000	Weak transcription	Lung	lung
9	chr5:94106400-94128800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:94112200-94128600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:94114400-94128200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:94114800-94124600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr5:94115000-94123400	Weak transcription	Fetal Thymus	thymus
14	chr5:94115400-94125600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:94120800-94127800	Weak transcription	GM12878-XiMat	blood
16	chr5:94122600-94129600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:94122800-94124000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:94122800-94124000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:94122800-94128800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:94123000-94123400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr5:94123000-94123600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:94123000-94123600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr5:94123000-94123600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:94123000-94123600	Active TSS	K562	blood
25	chr5:94123000-94124600	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:94123000-94124600	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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