Variant report

Variant	rs2703702
Chromosome Location	chr6:76147294-76147295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10806039	0.83[CHB][hapmap];0.88[MEX][hapmap]
rs12176377	0.87[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12202178	0.87[CHB][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1336043	0.83[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes]
rs1336044	0.88[AMR][1000 genomes]
rs1932523	0.87[CHB][hapmap];0.92[MEX][hapmap];0.82[TSI][hapmap];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2464434	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2464435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703662	0.83[MEX][hapmap];0.85[TSI][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2703665	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2703714	1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2808182	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2808183	0.81[ASW][hapmap];0.83[CHB][hapmap];0.83[JPT][hapmap];0.92[MEX][hapmap];0.85[TSI][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2808186	0.88[AMR][1000 genomes]
rs2808187	0.81[CEU][hapmap]
rs2808206	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808207	1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951917	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2951918	0.87[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951919	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951920	0.83[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2951922	1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2951924	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2951925	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951926	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951929	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951932	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2998365	0.87[CHB][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998366	0.87[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998367	0.83[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998382	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2998384	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2998389	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2998390	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2998391	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2998392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2998393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2998394	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4594918	0.83[CHB][hapmap]
rs6937196	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9341520	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9343290	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016804	chr6:75775846-76188585	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538310	chr6:75775846-76188585	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024079	chr6:75848556-76238519	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
7	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
8	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv886182	chr6:76096230-76194007	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2703702	EEF1A1	cis	cerebellum	SCAN
rs2703702	FILIP1	cis	parietal	SCAN
rs2703702	FBXO18	trans	cerebellum	SCAN

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76139200-76150200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:76141600-76147400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr6:76145200-76147400	Enhancers	Left Ventricle	heart
4	chr6:76145600-76148600	Enhancers	Duodenum Smooth Muscle	Duodenum
5	chr6:76145600-76149600	Enhancers	Rectal Smooth Muscle	rectum
6	chr6:76145600-76150400	Enhancers	A549	lung
7	chr6:76145800-76148000	Enhancers	Aorta	Aorta
8	chr6:76145800-76148800	Enhancers	Ovary	ovary
9	chr6:76146000-76148400	Enhancers	Fetal Stomach	stomach
10	chr6:76146000-76148400	Enhancers	Stomach Smooth Muscle	stomach
11	chr6:76146000-76148600	Enhancers	NHLF	lung
12	chr6:76146000-76148800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:76146000-76148800	Enhancers	Fetal Muscle Leg	muscle
14	chr6:76146200-76147400	Flanking Active TSS	Fetal Lung	lung
15	chr6:76146200-76148000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:76146200-76148400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr6:76146400-76147600	Enhancers	Brain Anterior Caudate	brain
18	chr6:76146400-76148400	Enhancers	HSMMtube	muscle
19	chr6:76146400-76171600	Weak transcription	Right Ventricle	heart
20	chr6:76146600-76147400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:76146600-76147600	Active TSS	Psoas Muscle	Psoas
22	chr6:76146600-76147600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr6:76146600-76148000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:76146600-76148000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:76146600-76148000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:76146600-76148000	Enhancers	HSMM	muscle
27	chr6:76146600-76148200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:76146800-76147400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:76146800-76147400	Weak transcription	Fetal Kidney	kidney
30	chr6:76146800-76147400	Enhancers	Right Atrium	heart
31	chr6:76146800-76147800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:76146800-76147800	Weak transcription	Adipose Nuclei	Adipose
33	chr6:76146800-76148000	Flanking Active TSS	NHDF-Ad	bronchial
34	chr6:76146800-76150200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:76147000-76148000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:76147000-76148200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:76147000-76148400	Enhancers	NH-A	brain
38	chr6:76147000-76150400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:76147200-76147400	Flanking Active TSS	Osteobl	bone
40	chr6:76147200-76147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:76147200-76147600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:76147200-76148000	Enhancers	Fetal Heart	heart
43	chr6:76147200-76148000	Enhancers	HMEC	breast
44	chr6:76147200-76148000	Enhancers	NHEK	skin
45	chr6:76147200-76149800	Enhancers	Colon Smooth Muscle	Colon

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