Variant report

Variant	rs1351514
Chromosome Location	chr4:54232110-54232111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:54231892..54232556-chr4:54243887..54244579,2	MCF-7	breast:
2	chr3:196669127..196670018-chr4:54231923..54232709,2	Hela-S3	cervix:
3	chr4:54231262..54233846-chr4:54243717..54245288,2	MCF-7	breast:
4	chr4:54230756..54233682-chr4:54240977..54245711,5	MCF-7	breast:
5	chr17:57408737..57409389-chr4:54231927..54232604,2	NB4	blood:
6	chr4:54231715..54232314-chr6:160210210..160210718,2	NB4	blood:

Variant related genes	Relation type
ENSG00000145216	Chromatin interaction
ENSG00000175155	Chromatin interaction
ENSG00000114503	Chromatin interaction
ENSG00000120438	Chromatin interaction
ENSG00000270170	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10012853	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10013573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs10028214	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1014056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10517291	0.85[CHB][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10517292	0.85[CHB][hapmap]
rs10517296	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11133267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11935822	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11939189	0.82[MEX][hapmap]
rs11942086	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11946199	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12499401	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs12501431	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12507723	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13120051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13125807	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13130836	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17082565	0.85[CHB][hapmap]
rs17082659	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17082910	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2128103	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2170421	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2271555	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2271557	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2292579	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34028346	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34173240	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34317954	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35033239	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35089532	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35225781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35313782	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36090882	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3817270	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3946758	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3986364	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864451	0.85[CHB][hapmap]
rs4864453	0.85[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs4864747	0.85[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap]
rs6420001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6554095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554099	0.83[JPT][hapmap]
rs6554102	0.84[ASN][1000 genomes]
rs6554103	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6554108	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs6826467	0.85[CHB][hapmap];0.85[CHD][hapmap];0.82[MEX][hapmap]
rs6846569	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6847289	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71597836	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs751265	0.85[CHB][hapmap];0.85[CHD][hapmap];0.88[MEX][hapmap]
rs7678953	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7679743	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7684450	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7684894	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694840	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs980988	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs997832	0.84[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9992820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9997358	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9997844	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1351514	EXOC1	cis	cerebellum	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54224800-54233000	Active TSS	GM12878-XiMat	blood
2	chr4:54227800-54232600	Active TSS	NHLF	lung
3	chr4:54228800-54232400	Active TSS	K562	blood
4	chr4:54229200-54232600	Active TSS	NHDF-Ad	bronchial
5	chr4:54230000-54232400	Active TSS	NH-A	brain
6	chr4:54230000-54232800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr4:54230000-54232800	Active TSS	A549	lung
8	chr4:54230200-54232400	Active TSS	HMEC	breast
9	chr4:54230200-54232600	Active TSS	Muscle Satellite Cultured Cells	--
10	chr4:54230400-54232800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr4:54230400-54233000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:54230600-54232600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:54230600-54232600	Active TSS	Fetal Intestine Large	intestine
14	chr4:54230600-54232600	Active TSS	NHEK	skin
15	chr4:54230600-54233000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr4:54230600-54233000	Active TSS	Fetal Kidney	kidney
17	chr4:54230600-54233000	Active TSS	HSMM	muscle
18	chr4:54230800-54232400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr4:54230800-54232600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr4:54230800-54232600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr4:54230800-54232600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:54230800-54232800	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:54230800-54233000	Active TSS	Ovary	ovary
24	chr4:54230800-54233000	Active TSS	Psoas Muscle	Psoas
25	chr4:54230800-54233000	Active TSS	Right Atrium	heart
26	chr4:54230800-54233000	Active TSS	HSMMtube	muscle
27	chr4:54230800-54233200	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr4:54231000-54232400	Active TSS	Hela-S3	cervix
29	chr4:54231000-54232600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:54231000-54232600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:54231000-54232600	Active TSS	Rectal Smooth Muscle	rectum
32	chr4:54231000-54233000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:54231000-54233000	Active TSS	Fetal Intestine Small	intestine
34	chr4:54231200-54232400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:54231200-54232400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr4:54231200-54232600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:54231200-54232600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr4:54231200-54232600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr4:54231200-54232600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr4:54231200-54232600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:54231200-54232600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:54231200-54232600	Active TSS	Small Intestine	intestine
43	chr4:54231200-54232800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:54231200-54232800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr4:54231200-54232800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr4:54231200-54232800	Active TSS	Left Ventricle	heart
47	chr4:54231200-54232800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr4:54231200-54233000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:54231400-54232200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr4:54231400-54232200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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