Variant report

Variant	rs11871766
Chromosome Location	chr17:67022135-67022136
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67017236..67020123-chr17:67021606..67025957,3	K562	blood:
2	chr17:67015770..67018736-chr17:67021606..67024068,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10512523	0.95[CHB][hapmap]
rs11077858	0.84[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs11077859	0.84[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs11077860	0.84[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes]
rs11077884	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11453	0.94[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap]
rs11657541	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11871944	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap]
rs12325889	0.95[CHB][hapmap]
rs12939564	0.80[AMR][1000 genomes]
rs12940103	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12942599	0.80[AMR][1000 genomes]
rs12943969	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1541470	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs16973495	0.88[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes]
rs2191212	0.81[AMR][1000 genomes]
rs2302291	0.83[MEX][hapmap]
rs2302292	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2302293	0.94[CHB][hapmap];0.95[JPT][hapmap]
rs2302294	0.84[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes]
rs4548939	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4968828	0.82[JPT][hapmap]
rs4968983	0.94[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs6501944	0.81[JPT][hapmap]
rs6501947	0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7207125	1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.87[ASN][1000 genomes]
rs7215642	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.93[ASN][1000 genomes]
rs7217543	0.84[CEU][hapmap];0.95[CHB][hapmap]
rs7218871	1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8066758	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8068236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs8070285	1.00[CHB][hapmap]
rs8070357	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11871766	ABCA9	cis	parietal	SCAN
rs11871766	C17orf58	cis	cerebellum	SCAN
rs11871766	ABCA6	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
3	chr17:67003800-67030600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:67004000-67023400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:67007600-67042200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr17:67008400-67044000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr17:67009200-67043200	Weak transcription	Pancreas	Pancrea
8	chr17:67009400-67044000	Weak transcription	Colon Smooth Muscle	Colon
9	chr17:67010400-67041200	Weak transcription	NHDF-Ad	bronchial
10	chr17:67011400-67027200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr17:67011400-67032600	Weak transcription	Fetal Muscle Leg	muscle
12	chr17:67011600-67022400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr17:67011600-67039200	Weak transcription	Left Ventricle	heart
14	chr17:67014000-67044200	Weak transcription	Psoas Muscle	Psoas
15	chr17:67015200-67023600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr17:67016200-67025800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:67016400-67024400	Strong transcription	Liver	Liver
18	chr17:67016800-67022400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:67019600-67024000	Strong transcription	Adipose Nuclei	Adipose
20	chr17:67019600-67024800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:67021400-67022400	Weak transcription	Ovary	ovary
22	chr17:67022000-67024200	Strong transcription	Fetal Lung	lung

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