Variant report

Variant	rs6835629
Chromosome Location	chr4:54346483-54346484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10008334	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10012682	0.86[YRI][hapmap]
rs10014172	0.84[LWK][hapmap];0.92[YRI][hapmap]
rs10021659	0.85[YRI][hapmap]
rs10022429	0.85[YRI][hapmap]
rs10022604	0.81[YRI][hapmap]
rs10024153	0.81[YRI][hapmap]
rs10025091	0.81[YRI][hapmap]
rs11725230	0.81[GIH][hapmap]
rs11734039	0.81[GIH][hapmap]
rs11737139	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11944047	0.87[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501431	0.81[EUR][1000 genomes]
rs12507739	0.81[GIH][hapmap]
rs12642437	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12644212	0.85[YRI][hapmap]
rs12645694	0.88[YRI][hapmap]
rs12649335	0.92[YRI][hapmap]
rs13117240	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119372	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125807	0.82[EUR][1000 genomes]
rs13435378	0.84[YRI][hapmap]
rs1399241	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs15834	0.88[YRI][hapmap]
rs17082741	0.83[YRI][hapmap]
rs17082847	0.92[YRI][hapmap]
rs17082910	0.82[EUR][1000 genomes]
rs17326196	0.85[YRI][hapmap]
rs2271557	0.82[EUR][1000 genomes]
rs2292579	0.82[EUR][1000 genomes]
rs2412489	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28404076	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34028346	0.82[EUR][1000 genomes]
rs35089532	0.82[EUR][1000 genomes]
rs35313782	0.82[EUR][1000 genomes]
rs3811785	0.81[GIH][hapmap]
rs4864760	0.81[GIH][hapmap]
rs4864766	0.91[CEU][hapmap];0.85[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57587034	0.82[AFR][1000 genomes]
rs59585683	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6554105	0.81[GIH][hapmap]
rs6554107	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554109	0.91[CEU][hapmap];0.80[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6810557	0.95[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828559	0.81[GIH][hapmap]
rs6834099	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7682199	0.81[GIH][hapmap]
rs931181	0.81[GIH][hapmap]
rs9312639	0.81[GIH][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6835629	EXOC1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54320000-54353200	Weak transcription	Gastric	stomach
2	chr4:54327600-54347800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:54327800-54362200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr4:54328200-54362000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr4:54328400-54362000	Weak transcription	Brain Angular Gyrus	brain
6	chr4:54329600-54351000	Weak transcription	Adipose Nuclei	Adipose
7	chr4:54329600-54373600	Weak transcription	Brain Germinal Matrix	brain
8	chr4:54329800-54374000	Weak transcription	Left Ventricle	heart
9	chr4:54333000-54363600	Weak transcription	Aorta	Aorta
10	chr4:54333000-54374800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:54338400-54347400	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:54341400-54347800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:54341800-54348000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:54342000-54348200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:54342400-54347000	Enhancers	HSMM	muscle
16	chr4:54342600-54347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:54342800-54360600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:54343000-54346800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:54343000-54385600	Weak transcription	Fetal Brain Female	brain
20	chr4:54343200-54347800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:54343200-54348000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:54343200-54376800	Weak transcription	Brain Anterior Caudate	brain
23	chr4:54343400-54346600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:54343400-54347000	Weak transcription	Pancreas	Pancrea
25	chr4:54343400-54347600	Enhancers	NH-A	brain
26	chr4:54343400-54347800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:54343400-54347800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:54343400-54347800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:54343400-54347800	Enhancers	Osteobl	bone
30	chr4:54343400-54352200	Weak transcription	Esophagus	oesophagus
31	chr4:54343400-54363000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:54343600-54347200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:54343600-54347400	Enhancers	NHDF-Ad	bronchial
34	chr4:54343600-54348000	Enhancers	HMEC	breast
35	chr4:54343600-54352600	Weak transcription	Placenta	Placenta
36	chr4:54343600-54364600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:54343800-54347000	Enhancers	NHEK	skin
38	chr4:54344000-54346800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:54344000-54347000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:54344200-54347600	Enhancers	NHLF	lung
41	chr4:54344600-54349000	Strong transcription	Liver	Liver
42	chr4:54344800-54347000	Weak transcription	Fetal Intestine Large	intestine
43	chr4:54345200-54346600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:54345400-54348200	Strong transcription	Duodenum Mucosa	Duodenum
45	chr4:54345600-54347200	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:54345600-54352200	Weak transcription	Fetal Intestine Small	intestine
47	chr4:54345800-54347000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:54345800-54347200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:54345800-54349800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:54345800-54351000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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