Variant report

Variant	rs2998367
Chromosome Location	chr6:76171513-76171514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10806039	0.96[CEU][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.92[EUR][1000 genomes]
rs10943253	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12176377	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12202178	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12213227	0.81[JPT][hapmap]
rs1336043	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336044	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414597	0.83[JPT][hapmap]
rs1932523	1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2464434	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2464435	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2703662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2703665	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2703702	0.83[MEX][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2703714	0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2808182	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808183	1.00[CEU][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2808186	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2808187	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2808206	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2808207	0.86[CHB][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2951918	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2951919	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2951920	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2951922	0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[LWK][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2951924	0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2951925	0.86[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951926	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951929	0.85[CHB][hapmap];0.81[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2951932	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2998365	1.00[CEU][hapmap];0.84[GIH][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2998366	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2998382	0.87[AMR][1000 genomes]
rs2998384	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998389	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2998390	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998391	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2998392	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2998393	0.83[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2998394	0.81[CHB][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4594918	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs6937196	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9341520	0.91[AMR][1000 genomes]
rs9343290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9447510	0.81[JPT][hapmap]
rs9885866	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2998367	EEF1A1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76146400-76171600	Weak transcription	Right Ventricle	heart
2	chr6:76148400-76173600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:76148800-76177000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:76164800-76178200	Enhancers	Fetal Heart	heart
5	chr6:76167800-76174400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:76168000-76174400	Enhancers	Fetal Lung	lung
7	chr6:76168000-76177000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:76168400-76171600	Weak transcription	Right Atrium	heart
9	chr6:76169600-76171800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:76170400-76172000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:76170400-76173000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:76171000-76173000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:76171200-76172000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:76171200-76172400	Enhancers	A549	lung
15	chr6:76171200-76172600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:76171400-76171800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr6:76171400-76172000	Enhancers	Aorta	Aorta
18	chr6:76171400-76172600	Enhancers	Psoas Muscle	Psoas
19	chr6:76171400-76172800	Enhancers	Left Ventricle	heart
20	chr6:76171400-76173000	Enhancers	Skeletal Muscle Male	skeletal muscle

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