Variant report

Variant	rs4148010
Chromosome Location	chr17:66872200-66872201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10852765	0.84[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs11077801	0.81[AMR][1000 genomes]
rs11651365	0.81[AMR][1000 genomes]
rs11652518	0.89[ASN][1000 genomes]
rs12451146	0.81[ASN][1000 genomes]
rs12451990	0.81[AMR][1000 genomes]
rs12952511	0.81[AMR][1000 genomes]
rs1373065	0.97[ASN][1000 genomes]
rs1443264	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16973376	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2009065	0.86[ASN][1000 genomes]
rs2016785	0.94[ASN][1000 genomes]
rs2053586	0.85[ASN][1000 genomes]
rs34952002	0.82[AMR][1000 genomes]
rs3744492	0.88[AMR][1000 genomes]
rs3744493	0.84[MEX][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes]
rs3744494	0.84[MEX][hapmap];0.80[TSI][hapmap]
rs3744495	0.81[AMR][1000 genomes]
rs3744496	0.83[MEX][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs3826429	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4147313	0.84[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs4147314	0.84[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs4147998	0.81[AMR][1000 genomes]
rs4147999	0.81[AMR][1000 genomes]
rs4148009	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4148012	0.87[ASN][1000 genomes]
rs4968824	0.81[AMR][1000 genomes]
rs4968960	0.81[ASN][1000 genomes]
rs4968968	0.86[AMR][1000 genomes]
rs4968970	0.81[AMR][1000 genomes]
rs4968971	0.81[AMR][1000 genomes]
rs4968972	0.84[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs4968973	0.81[AMR][1000 genomes]
rs61303445	0.81[AMR][1000 genomes]
rs6501832	0.91[ASN][1000 genomes]
rs6501834	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.97[ASN][1000 genomes]
rs66588031	0.81[AMR][1000 genomes]
rs66600020	0.81[AMR][1000 genomes]
rs67040494	0.83[AMR][1000 genomes]
rs67927198	0.81[AMR][1000 genomes]
rs68027451	0.81[AMR][1000 genomes]
rs7216979	0.95[ASN][1000 genomes]
rs7218530	0.81[ASN][1000 genomes]
rs8071218	0.81[AMR][1000 genomes]
rs8071901	0.92[ASN][1000 genomes]
rs8074603	0.81[AMR][1000 genomes]
rs8074769	0.84[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs9895870	0.81[ASN][1000 genomes]
rs9896139	0.81[ASN][1000 genomes]
rs9897551	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv908695	chr17:66865583-66904001	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4148010	ICAM2	cis	cerebellum	SCAN
rs4148010	ACE	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66863600-66875600	Weak transcription	Fetal Stomach	stomach
2	chr17:66866400-66874200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:66866800-66883600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr17:66867200-66874400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:66867400-66874000	Weak transcription	Brain Anterior Caudate	brain
6	chr17:66867400-66876200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:66867800-66876200	Weak transcription	Osteobl	bone
8	chr17:66868400-66874200	Weak transcription	Right Ventricle	heart
9	chr17:66868600-66874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:66868800-66875800	Strong transcription	Ovary	ovary
11	chr17:66869200-66875800	Strong transcription	Liver	Liver
12	chr17:66869200-66876000	Strong transcription	Adipose Nuclei	Adipose
13	chr17:66869200-66876000	Strong transcription	Left Ventricle	heart
14	chr17:66869200-66903400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:66869400-66872800	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr17:66869400-66875400	Strong transcription	Brain Hippocampus Middle	brain
17	chr17:66869600-66872200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr17:66869600-66875800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr17:66869600-66876000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr17:66869800-66883400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:66870000-66874800	Weak transcription	Fetal Brain Male	brain
22	chr17:66870200-66875800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:66870200-66876000	Weak transcription	Brain Angular Gyrus	brain
24	chr17:66870400-66872200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:66870400-66872600	Strong transcription	Fetal Lung	lung
26	chr17:66870400-66874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr17:66870400-66875400	Weak transcription	Psoas Muscle	Psoas
28	chr17:66870400-66875600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:66870400-66876400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:66870600-66875600	Weak transcription	Stomach Smooth Muscle	stomach
31	chr17:66870800-66877000	Weak transcription	Fetal Heart	heart
32	chr17:66871400-66873000	Strong transcription	Fetal Muscle Leg	muscle
33	chr17:66871400-66873600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr17:66871800-66875600	Weak transcription	Brain Substantia Nigra	brain
35	chr17:66872000-66873000	Strong transcription	Brain Cingulate Gyrus	brain
36	chr17:66872000-66875800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr17:66872000-66875800	Weak transcription	Gastric	stomach
38	chr17:66872200-66873600	Weak transcription	Spleen	Spleen
39	chr17:66872200-66875600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:66872200-66875600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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