Variant report

Variant	rs6908917
Chromosome Location	chr6:131355864-131355865
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12193574	0.83[CHD][hapmap]
rs1332490	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1332491	0.89[CEU][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1338905	0.89[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1855077	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1888959	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1976982	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2007339	0.89[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2068147	0.84[CHD][hapmap]
rs2151069	0.84[CEU][hapmap]
rs2225557	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3777440	0.84[CHD][hapmap]
rs3777442	0.82[CHD][hapmap]
rs3777461	0.84[CHD][hapmap]
rs3777466	0.84[CHD][hapmap]
rs3822863	0.84[CHD][hapmap]
rs4895902	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4897480	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4897481	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4897482	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4897488	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897490	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6569716	0.84[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs6569718	0.89[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6569720	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6569722	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6569725	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6900810	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6909134	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6921207	0.81[CHD][hapmap]
rs6928986	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6942081	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7742376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7765007	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs7765757	0.89[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9321268	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9372988	0.89[CEU][hapmap];0.87[GIH][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9402299	0.84[CHD][hapmap]
rs9689026	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
IgG glycosylation	23382691	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6908917	AKAP7	cis	multi-tissue	Pritchard

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131345800-131357600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:131346000-131375000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:131349000-131358800	Weak transcription	Pancreas	Pancrea
4	chr6:131351400-131356200	Weak transcription	Brain Angular Gyrus	brain
5	chr6:131351400-131356200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:131351400-131356400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:131351400-131356400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:131351400-131356800	Weak transcription	Fetal Intestine Small	intestine
9	chr6:131351400-131357400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:131351400-131359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:131351400-131360200	Weak transcription	Small Intestine	intestine
12	chr6:131351400-131361400	Weak transcription	Psoas Muscle	Psoas
13	chr6:131351400-131375000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:131351600-131356200	Weak transcription	Fetal Intestine Large	intestine
15	chr6:131351600-131356400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:131351600-131357400	Weak transcription	Adipose Nuclei	Adipose
17	chr6:131351600-131357800	Weak transcription	Colon Smooth Muscle	Colon
18	chr6:131351600-131358000	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:131351600-131358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:131351600-131359400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr6:131351600-131359400	Weak transcription	Fetal Lung	lung
22	chr6:131351600-131360200	Weak transcription	Fetal Stomach	stomach
23	chr6:131351600-131374600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:131351800-131360000	Weak transcription	A549	lung
25	chr6:131352000-131357600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:131352000-131358000	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:131352000-131359400	Weak transcription	HSMM	muscle
28	chr6:131352000-131360000	Weak transcription	NH-A	brain
29	chr6:131352200-131357800	Weak transcription	NHDF-Ad	bronchial
30	chr6:131352200-131358800	Weak transcription	Lung	lung
31	chr6:131352200-131359400	Weak transcription	NHLF	lung
32	chr6:131352200-131359800	Weak transcription	Brain Substantia Nigra	brain
33	chr6:131352200-131360200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:131352200-131360200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:131352400-131374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:131353200-131357800	Weak transcription	Brain Anterior Caudate	brain
37	chr6:131353800-131359800	Enhancers	HepG2	liver
38	chr6:131353800-131364000	Weak transcription	Ovary	ovary
39	chr6:131355200-131358800	Weak transcription	Aorta	Aorta

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