Variant report

Variant	rs7682199
Chromosome Location	chr4:54343363-54343364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54319802..54322613-chr4:54343066..54345162,2	K562	blood:
2	chr4:54341936..54344019-chr4:54348085..54349647,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10000746	0.88[CHB][hapmap];0.84[JPT][hapmap]
rs10001201	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10005424	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10007903	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10011394	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10021541	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10028142	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10032903	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1021099	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11133276	0.85[CEU][hapmap];0.90[YRI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11722866	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11723755	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11725230	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11734039	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11734681	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11944047	0.81[GIH][hapmap]
rs11947256	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12507563	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12507739	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12508701	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12511088	0.95[CEU][hapmap];0.83[CHB][hapmap];0.80[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12511253	0.95[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12642403	0.95[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12649718	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12651390	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap]
rs13150384	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1471597	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481824	0.80[EUR][1000 genomes]
rs1531748	0.81[CEU][hapmap]
rs17082782	0.84[EUR][1000 genomes]
rs17082893	0.93[ASW][hapmap];0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17082923	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17520800	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2090117	0.84[EUR][1000 genomes]
rs2271558	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271559	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2412447	0.87[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2412488	0.85[EUR][1000 genomes]
rs28414913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28459503	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35089837	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35499169	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35978987	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36011216	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3765158	0.85[EUR][1000 genomes]
rs3811782	0.80[EUR][1000 genomes]
rs3811785	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4864760	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4864767	0.95[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56998298	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57297394	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6554100	0.80[EUR][1000 genomes]
rs6554104	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6554105	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6554109	0.81[GIH][hapmap]
rs6818788	0.95[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6822201	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6825364	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6827269	0.85[EUR][1000 genomes]
rs6828559	0.87[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6832626	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6833442	0.86[AFR][1000 genomes]
rs6833766	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6834934	0.80[EUR][1000 genomes]
rs6835629	0.81[GIH][hapmap]
rs6838260	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6839922	0.95[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840343	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6840530	0.95[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6843529	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6848887	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6857024	0.80[EUR][1000 genomes]
rs7655975	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7686177	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7686876	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7688853	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7689981	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7690908	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7691578	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691892	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7697622	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7698792	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs931181	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9312639	0.86[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9995284	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9996883	0.95[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7682199	EXOC1	cis	cerebellum	SCAN
rs7682199	TYW1B	trans	parietal	SCAN
rs7682199	ZNF585A	cis	Frontal Cortex	GTEx

Chromatin state (count:67 , 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	chr4:54339200-54343400	Strong transcription	Liver	Liver
13	chr4:54340400-54343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:54341400-54347800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:54341800-54343800	Enhancers	HSMMtube	muscle
16	chr4:54341800-54345800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:54341800-54348000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:54342000-54343400	Strong transcription	Pancreas	Pancrea
19	chr4:54342000-54348200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:54342400-54343400	Enhancers	Ovary	ovary
21	chr4:54342400-54343600	Genic enhancers	Placenta	Placenta
22	chr4:54342400-54343800	Weak transcription	Lung	lung
23	chr4:54342400-54347000	Enhancers	HSMM	muscle
24	chr4:54342600-54343400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr4:54342600-54343400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:54342600-54343600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:54342600-54343600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr4:54342600-54345200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:54342600-54347800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:54342800-54343400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:54342800-54343400	Enhancers	Esophagus	oesophagus
32	chr4:54342800-54343600	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr4:54342800-54343600	Enhancers	HepG2	liver
34	chr4:54342800-54343800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:54342800-54344000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr4:54342800-54360600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:54343000-54343400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:54343000-54343400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:54343000-54343400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:54343000-54343400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:54343000-54343400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr4:54343000-54343400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:54343000-54343400	Flanking Active TSS	NH-A	brain
44	chr4:54343000-54343400	Flanking Active TSS	Osteobl	bone
45	chr4:54343000-54343600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:54343000-54343600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:54343000-54343600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:54343000-54343600	Flanking Active TSS	HMEC	breast
49	chr4:54343000-54343600	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:54343000-54343600	Flanking Active TSS	NHLF	lung

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