Variant report

Variant	rs4708181
Chromosome Location	chr6:76043938-76043939
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1018471	0.81[CHB][hapmap]
rs10806035	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs10943241	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220419	0.91[CEU][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes]
rs2207600	0.87[CEU][hapmap]
rs2703668	0.89[EUR][1000 genomes]
rs2703708	0.89[EUR][1000 genomes]
rs2703711	0.92[EUR][1000 genomes]
rs2703715	0.91[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs2703716	0.89[EUR][1000 genomes]
rs2748252	0.82[CHB][hapmap]
rs2748253	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs2808188	0.91[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs2808189	0.91[EUR][1000 genomes]
rs2808190	0.91[EUR][1000 genomes]
rs2808199	0.88[EUR][1000 genomes]
rs2808201	0.89[GIH][hapmap]
rs2808203	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap]
rs2808204	0.88[ASN][1000 genomes]
rs2808208	0.92[EUR][1000 genomes]
rs2842451	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2842452	0.89[EUR][1000 genomes]
rs2842455	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2842459	0.81[CHB][hapmap]
rs2842461	0.91[CEU][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs2842462	0.82[CHB][hapmap]
rs2842463	0.82[CHB][hapmap]
rs2951934	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs2951937	0.91[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs2951939	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2951945	0.91[CEU][hapmap];0.91[EUR][1000 genomes]
rs2951946	0.92[EUR][1000 genomes]
rs2951947	0.92[EUR][1000 genomes]
rs2951949	0.91[EUR][1000 genomes]
rs2951952	0.91[CEU][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];0.92[EUR][1000 genomes]
rs2998371	0.92[EUR][1000 genomes]
rs3935857	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4131550	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4273651	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4275021	1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs4283851	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4295446	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4324739	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4361582	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4374801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4380723	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4412169	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4498313	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4535511	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4541712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4588651	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4708178	0.86[EUR][1000 genomes]
rs4708179	0.86[CHB][hapmap];0.82[CHD][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs502900	0.83[CEU][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap]
rs6453824	0.82[EUR][1000 genomes]
rs6453825	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6902022	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6903526	1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.98[ASN][1000 genomes]
rs6904580	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6913979	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6921940	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6929270	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6933680	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6937768	0.88[ASN][1000 genomes]
rs7451911	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7740648	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7743227	0.86[CHB][hapmap];0.82[YRI][hapmap];0.83[ASN][1000 genomes]
rs7753528	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7766441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7771904	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs7772989	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9341514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341515	0.95[ASN][1000 genomes]
rs9341516	0.95[ASN][1000 genomes]
rs9343281	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs9343283	0.98[ASN][1000 genomes]
rs9352202	0.82[CHB][hapmap];0.82[CHD][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs9352203	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9352204	0.96[EUR][1000 genomes]
rs9352205	0.96[EUR][1000 genomes]
rs9352206	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9352207	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9359122	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9443168	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9443169	0.86[ASN][1000 genomes]
rs9443170	0.85[ASN][1000 genomes]
rs9443171	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9447475	0.86[ASN][1000 genomes]
rs9689477	1.00[CEU][hapmap];0.87[CHB][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv830698	chr6:75968810-76115592	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	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
8	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4708181	EEF1A1	cis	cerebellum	SCAN
rs4708181	TMEM30A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76016200-76044400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:76024800-76047200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:76027800-76044000	Weak transcription	Right Ventricle	heart
4	chr6:76028200-76044000	Weak transcription	Aorta	Aorta
5	chr6:76029800-76044000	Weak transcription	Left Ventricle	heart
6	chr6:76033400-76044000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:76037000-76044000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:76040000-76044000	Enhancers	NHDF-Ad	bronchial
9	chr6:76041400-76044000	Weak transcription	NH-A	brain
10	chr6:76041400-76044000	Weak transcription	NHLF	lung
11	chr6:76041600-76045200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr6:76041600-76045400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:76041800-76044000	Enhancers	Fetal Lung	lung
14	chr6:76041800-76044000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:76042400-76044200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:76042600-76044000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:76042600-76044000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:76042600-76044000	Weak transcription	Psoas Muscle	Psoas
19	chr6:76042600-76044200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:76042600-76044400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr6:76042600-76044800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr6:76042800-76044000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:76042800-76044800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:76042800-76044800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:76042800-76045000	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:76043000-76044400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:76043000-76045000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr6:76043200-76044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:76043200-76045000	Enhancers	Brain Hippocampus Middle	brain
30	chr6:76043200-76046000	Enhancers	Fetal Heart	heart
31	chr6:76043600-76044200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr6:76043600-76044200	Enhancers	HUVEC	blood vessel
33	chr6:76043600-76044400	Active TSS	H9 Cell Line	embryonic stem cell
34	chr6:76043600-76044400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:76043600-76044600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr6:76043600-76044800	Enhancers	Right Atrium	heart
37	chr6:76043600-76045000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:76043600-76046000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:76043600-76046400	Enhancers	Colon Smooth Muscle	Colon
40	chr6:76043800-76044000	Enhancers	Brain Substantia Nigra	brain
41	chr6:76043800-76044200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:76043800-76044400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:76043800-76044600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:76043800-76044800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:76043800-76044800	Enhancers	Brain Angular Gyrus	brain
46	chr6:76043800-76044800	Active TSS	Brain Anterior Caudate	brain
47	chr6:76043800-76044800	Active TSS	Fetal Brain Female	brain
48	chr6:76043800-76045000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:76043800-76045000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr6:76043800-76045000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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