Variant report

Variant	rs6913979
Chromosome Location	chr6:76063133-76063134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:75994942..75996622-chr6:76062325..76064970,2	K562	blood:
2	chr6:76061198..76063210-chr6:76102541..76105002,2	K562	blood:
3	chr6:76060441..76063386-chr6:76076678..76078572,2	K562	blood:
4	chr6:76054760..76056820-chr6:76062802..76065175,2	K562	blood:
5	chr6:75991942..75994459-chr6:76062437..76064646,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112697	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1018471	0.81[CHB][hapmap]
rs10806035	0.86[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs10943241	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13220419	0.83[CEU][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs2703668	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2703708	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2703711	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2703715	1.00[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2703716	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2748252	0.82[CHB][hapmap]
rs2748253	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs2808188	1.00[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2808189	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2808190	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2808199	0.83[AMR][1000 genomes];0.91[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]
rs2808204	0.90[ASN][1000 genomes]
rs2808208	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2842451	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2842452	0.91[EUR][1000 genomes]
rs2842455	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2842459	0.81[CHB][hapmap]
rs2842461	0.83[CEU][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs2842462	0.82[CHB][hapmap]
rs2842463	0.82[CHB][hapmap]
rs2951934	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2951937	1.00[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2951939	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2951945	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2951946	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2951947	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2951949	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2951952	1.00[CEU][hapmap];0.92[GIH][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2998371	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3935857	0.95[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4131550	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4273651	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4275021	1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs4283851	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4295446	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4324739	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs4361582	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4374801	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4380723	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs4412169	0.96[ASN][1000 genomes]
rs4498313	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4535511	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4541712	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4568415	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4588651	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4708178	0.84[EUR][1000 genomes]
rs4708179	0.86[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs4708181	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]
rs502900	0.83[CEU][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs6453825	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs6902022	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6903526	1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6904580	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6921940	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs6929270	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6933680	0.95[EUR][1000 genomes]
rs6937768	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7451911	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7740648	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7743227	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs7753528	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7766441	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7771904	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7772989	0.91[CEU][hapmap];0.91[CHB][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9341514	0.88[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9341515	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9341516	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9343281	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs9343283	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9352202	0.82[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs9352203	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9352204	0.94[EUR][1000 genomes]
rs9352205	0.94[EUR][1000 genomes]
rs9352206	0.82[EUR][1000 genomes]
rs9352207	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9359122	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9443168	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9443169	0.88[ASN][1000 genomes]
rs9443170	0.87[ASN][1000 genomes]
rs9443171	0.88[ASW][hapmap];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];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9447475	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9689477	0.91[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][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	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6913979	EEF1A1	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76044600-76072800	Weak transcription	A549	lung
2	chr6:76059600-76063200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:76059600-76063200	Weak transcription	Gastric	stomach
4	chr6:76059600-76067000	Weak transcription	Right Ventricle	heart
5	chr6:76059600-76068600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:76059600-76070200	Weak transcription	Aorta	Aorta
7	chr6:76059600-76074000	Weak transcription	Ovary	ovary
8	chr6:76059600-76078600	Weak transcription	Psoas Muscle	Psoas
9	chr6:76059600-76079600	Weak transcription	Lung	lung
10	chr6:76059800-76064200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:76059800-76064600	Weak transcription	Fetal Stomach	stomach
12	chr6:76059800-76066800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:76059800-76066800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr6:76059800-76069400	Weak transcription	Colon Smooth Muscle	Colon
15	chr6:76059800-76074600	Weak transcription	Pancreas	Pancrea
16	chr6:76059800-76077800	Weak transcription	Adipose Nuclei	Adipose
17	chr6:76059800-76077800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:76059800-76078200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:76060000-76071400	Weak transcription	Brain Anterior Caudate	brain
20	chr6:76060400-76063400	Weak transcription	Stomach Mucosa	stomach
21	chr6:76061200-76063600	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:76061800-76063200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:76061800-76067000	Weak transcription	Fetal Heart	heart
24	chr6:76062400-76069200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:76062800-76064200	Strong transcription	Fetal Lung	lung
26	chr6:76063000-76063200	Genic enhancers	Stomach Smooth Muscle	stomach
27	chr6:76063000-76063400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:76063000-76063400	Strong transcription	Left Ventricle	heart
29	chr6:76063000-76063600	Strong transcription	Fetal Muscle Leg	muscle
30	chr6:76063000-76063800	Enhancers	Rectal Smooth Muscle	rectum
31	chr6:76063000-76063800	Strong transcription	Skeletal Muscle Male	skeletal muscle

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