Variant report

Variant	rs2146822
Chromosome Location	chr13:95293574-95293575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16949977	1.00[ASN][1000 genomes]
rs2226077	1.00[ASN][1000 genomes]
rs2226078	1.00[CHD][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs4417425	1.00[ASN][1000 genomes]
rs59149020	1.00[ASN][1000 genomes]
rs61707735	1.00[ASN][1000 genomes]
rs61965606	1.00[ASN][1000 genomes]
rs6492722	1.00[CHD][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs6492724	1.00[ASN][1000 genomes]
rs72638354	1.00[ASN][1000 genomes]
rs72638356	1.00[ASN][1000 genomes]
rs7318105	1.00[ASN][1000 genomes]
rs7320230	1.00[ASN][1000 genomes]
rs7329965	1.00[ASN][1000 genomes]
rs73546690	1.00[ASN][1000 genomes]
rs7981150	1.00[ASN][1000 genomes]
rs7984105	1.00[CHD][hapmap];0.80[MEX][hapmap];1.00[ASN][1000 genomes]
rs7989918	1.00[ASN][1000 genomes]
rs7998457	1.00[ASN][1000 genomes]
rs9516431	1.00[ASN][1000 genomes]
rs9516436	1.00[CHD][hapmap]
rs9516439	1.00[ASN][1000 genomes]
rs9524564	1.00[ASN][1000 genomes]
rs9524575	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9524577	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9584241	1.00[ASN][1000 genomes]
rs9584242	1.00[ASN][1000 genomes]
rs9584243	1.00[ASN][1000 genomes]
rs9590039	1.00[CHD][hapmap]
rs9590045	1.00[ASN][1000 genomes]
rs9590046	1.00[ASN][1000 genomes]
rs9590048	1.00[ASN][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	esv34004	chr13:94906537-95392644	Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832686	chr13:95206742-95400992	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2146822	GPR180	cis	cerebellum	SCAN
rs2146822	GPR180	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95264200-95299600	Weak transcription	Psoas Muscle	Psoas
2	chr13:95276600-95293600	Weak transcription	HSMMtube	muscle
3	chr13:95276800-95294000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr13:95277400-95293800	Weak transcription	Ovary	ovary
5	chr13:95280600-95293600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr13:95283400-95293600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:95283400-95293600	Weak transcription	Fetal Muscle Leg	muscle
8	chr13:95283400-95293800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr13:95285600-95293600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:95288000-95295800	Weak transcription	Liver	Liver
11	chr13:95292400-95293600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr13:95292400-95294600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:95292600-95293600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:95292600-95294600	Enhancers	Osteobl	bone
15	chr13:95292600-95294800	Enhancers	HMEC	breast
16	chr13:95292600-95295400	Enhancers	Fetal Stomach	stomach
17	chr13:95292800-95293600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:95292800-95293600	Enhancers	NH-A	brain
19	chr13:95292800-95293800	Enhancers	Fetal Lung	lung
20	chr13:95292800-95293800	Enhancers	Stomach Mucosa	stomach
21	chr13:95292800-95294200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:95292800-95294400	Enhancers	HSMM	muscle
23	chr13:95292800-95295000	Enhancers	NHLF	lung
24	chr13:95292800-95295400	Enhancers	Colon Smooth Muscle	Colon
25	chr13:95293000-95293600	Enhancers	HUVEC	blood vessel
26	chr13:95293000-95294400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:95293000-95295200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr13:95293200-95293600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:95293200-95293600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:95293200-95293800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:95293200-95293800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:95293200-95294600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:95293200-95294600	Flanking Active TSS	NHEK	skin
34	chr13:95293400-95293600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:95293400-95293600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr13:95293400-95294000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr13:95293400-95294200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr13:95293400-95294200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:95293400-95294600	Enhancers	NHDF-Ad	bronchial
40	chr13:95293400-95294800	Enhancers	Duodenum Smooth Muscle	Duodenum

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