Variant report

Variant	rs1600795
Chromosome Location	chr4:54221952-54221953
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54220216..54222517-chr4:54223647..54225586,2	K562	blood:
2	chr4:54220179..54222765-chr4:54228443..54230623,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10000746	0.94[CEU][hapmap];0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10001201	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs10007903	0.81[CEU][hapmap]
rs10011259	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10017903	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10021541	0.83[EUR][1000 genomes]
rs1021099	0.83[EUR][1000 genomes]
rs11133266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11725230	0.82[CEU][hapmap]
rs11731499	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11734039	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs11947256	0.83[EUR][1000 genomes]
rs12649718	0.83[EUR][1000 genomes]
rs12651390	0.82[CEU][hapmap]
rs1471597	0.83[EUR][1000 genomes]
rs1481819	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1481824	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1531748	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17082782	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2090117	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271554	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412447	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs2412488	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28579268	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35499169	0.82[EUR][1000 genomes]
rs3765158	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3811782	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3811785	0.82[CEU][hapmap]
rs4864759	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4864760	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs56998298	0.83[EUR][1000 genomes]
rs6554100	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554104	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs6554105	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs6554106	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6827269	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6828559	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs6833766	0.82[CEU][hapmap]
rs6834934	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6848887	0.84[EUR][1000 genomes]
rs6852884	0.83[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6857024	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6857869	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7655975	0.83[EUR][1000 genomes]
rs7686177	0.85[EUR][1000 genomes]
rs7686876	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs7697622	0.83[EUR][1000 genomes]
rs7698792	0.82[CEU][hapmap]
rs931181	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs931182	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9312639	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs980987	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1600795	EXOC1	cis	cerebellum	SCAN
rs1600795	TYW1B	trans	parietal	SCAN

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:54188200-54231200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:54202200-54226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:54210400-54225600	Weak transcription	Small Intestine	intestine
5	chr4:54212000-54227200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:54213600-54228600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr4:54213800-54230400	Weak transcription	Fetal Kidney	kidney
8	chr4:54214000-54230800	Weak transcription	Aorta	Aorta
9	chr4:54214000-54231200	Weak transcription	Lung	lung
10	chr4:54214200-54224000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:54214200-54228200	Weak transcription	Esophagus	oesophagus
12	chr4:54214200-54228200	Weak transcription	Fetal Brain Female	brain
13	chr4:54214200-54228200	Weak transcription	NH-A	brain
14	chr4:54214200-54228800	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:54214200-54229000	Weak transcription	HUVEC	blood vessel
16	chr4:54214200-54230000	Weak transcription	Fetal Heart	heart
17	chr4:54214200-54230000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:54214200-54230400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr4:54214200-54230800	Weak transcription	Brain Angular Gyrus	brain
20	chr4:54214200-54230800	Weak transcription	Brain Substantia Nigra	brain
21	chr4:54214200-54230800	Weak transcription	Fetal Lung	lung
22	chr4:54214200-54230800	Weak transcription	Right Ventricle	heart
23	chr4:54214200-54230800	Weak transcription	HSMMtube	muscle
24	chr4:54214200-54231000	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:54214200-54231000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:54214200-54231200	Weak transcription	Spleen	Spleen
27	chr4:54214400-54224400	Weak transcription	A549	lung
28	chr4:54214400-54230200	Weak transcription	HMEC	breast
29	chr4:54214600-54230000	Weak transcription	Brain Anterior Caudate	brain
30	chr4:54214800-54230200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr4:54215000-54226800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr4:54216600-54227600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr4:54218800-54230800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:54219000-54224800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:54219000-54225800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:54219000-54227600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:54219000-54228400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:54219200-54224800	Weak transcription	Osteobl	bone
39	chr4:54219200-54225800	Weak transcription	Dnd41	blood
40	chr4:54219200-54227400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:54219200-54227600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:54219200-54227600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:54219200-54227600	Weak transcription	HSMM	muscle
44	chr4:54219200-54229400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:54219200-54229400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:54219200-54230000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:54219400-54229400	Weak transcription	Left Ventricle	heart
48	chr4:54219400-54230400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr4:54219400-54230800	Weak transcription	Thymus	Thymus
50	chr4:54219600-54226200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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