Variant report

Variant	rs10517296
Chromosome Location	chr4:54257131-54257132
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54256491..54258052-chr4:54258208..54260279,2	K562	blood:
2	chr4:54242715..54244847-chr4:54254190..54257158,2	K562	blood:

Variant related genes	Relation type
ENSG00000145216	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10012853	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10013573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10028214	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1014056	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10517291	0.85[CHB][hapmap]
rs10517292	0.85[CHB][hapmap]
rs11133267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935822	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11942086	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11946199	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12499401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12501431	0.80[EUR][1000 genomes]
rs12507723	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13120051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13125807	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13130836	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1351514	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]
rs17082565	0.85[CHB][hapmap]
rs17082659	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17082887	0.94[YRI][hapmap]
rs17082910	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2128103	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2170421	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2271555	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271557	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2292579	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34028346	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34173240	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34317954	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033239	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35089532	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35225781	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35313782	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3817270	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3946758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3986364	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864451	0.85[CHB][hapmap]
rs4864453	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs4864747	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs4864763	1.00[YRI][hapmap]
rs6420001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554102	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6554103	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554107	0.81[EUR][1000 genomes]
rs6554108	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6554109	0.81[MEX][hapmap]
rs6826467	0.85[CHB][hapmap];0.84[MEX][hapmap]
rs6846569	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6847289	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71597836	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751265	0.85[CHB][hapmap]
rs7678953	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7679743	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7681753	1.00[YRI][hapmap]
rs7684450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7684894	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7694840	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs980988	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997832	0.84[CHB][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];0.85[MKK][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992820	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9997358	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9997844	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10517296	EXOC1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54244600-54272800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:54244600-54310600	Weak transcription	Spleen	Spleen
3	chr4:54244600-54319200	Weak transcription	Pancreas	Pancrea
4	chr4:54245000-54271400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:54245400-54279400	Weak transcription	Right Ventricle	heart
6	chr4:54245600-54269600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:54245600-54270200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:54246000-54257800	Weak transcription	Fetal Heart	heart
9	chr4:54246000-54270200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:54246000-54270200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:54246200-54276200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:54246200-54319200	Weak transcription	Aorta	Aorta
13	chr4:54246400-54259800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:54246400-54259800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr4:54246600-54259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:54246600-54270200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:54246600-54311200	Weak transcription	Small Intestine	intestine
18	chr4:54247200-54258600	Strong transcription	Fetal Intestine Large	intestine
19	chr4:54247400-54260800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:54247400-54270200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr4:54247600-54259400	Strong transcription	HMEC	breast
22	chr4:54247600-54262200	Strong transcription	K562	blood
23	chr4:54247600-54269800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:54247600-54270200	Strong transcription	Dnd41	blood
25	chr4:54248000-54270000	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr4:54248200-54259600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:54248200-54259600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:54248200-54270000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:54248200-54270200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:54248400-54258600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:54248400-54258600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:54248400-54258800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr4:54248400-54258800	Strong transcription	NH-A	brain
34	chr4:54248400-54259200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr4:54248400-54259400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:54248400-54259400	Strong transcription	Placenta	Placenta
37	chr4:54248400-54259600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:54248400-54259600	Strong transcription	Fetal Lung	lung
39	chr4:54248400-54260800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:54248400-54269400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:54248400-54269600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:54248400-54269800	Strong transcription	Fetal Thymus	thymus
43	chr4:54248400-54270000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:54248400-54270000	Strong transcription	NHDF-Ad	bronchial
45	chr4:54248400-54270200	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr4:54248400-54270200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr4:54248600-54258400	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr4:54248600-54258600	Strong transcription	Primary hematopoietic stem cells	blood
49	chr4:54248600-54258800	Strong transcription	Osteobl	bone
50	chr4:54248600-54259600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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