Variant report

Variant	rs2193450
Chromosome Location	chr2:205473592-205473593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10084275	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10170405	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10174747	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10175139	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10198136	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10490268	0.95[EUR][1000 genomes]
rs10932077	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10932079	0.96[EUR][1000 genomes]
rs10932080	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11674084	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11675511	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11675555	0.95[EUR][1000 genomes]
rs11680708	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12474673	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12474806	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12614238	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12621786	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12694004	0.94[EUR][1000 genomes]
rs12986544	0.81[AMR][1000 genomes]
rs13017644	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13024650	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1447497	0.90[CEU][hapmap]
rs1861766	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1868068	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2111447	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2193449	0.96[EUR][1000 genomes]
rs2197691	0.90[CEU][hapmap];0.80[CHB][hapmap];0.80[JPT][hapmap]
rs2216318	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2216319	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2334802	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4673307	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6721452	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6731575	0.83[AMR][1000 genomes]
rs7568847	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7587284	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7590330	0.95[EUR][1000 genomes]
rs7595939	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7600675	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7603507	0.96[EUR][1000 genomes]
rs7609521	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs763832	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9283519	0.87[AMR][1000 genomes];0.98[EUR][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2193450	FZD5	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205467400-205477200	Enhancers	Colon Smooth Muscle	Colon
2	chr2:205468600-205475400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:205470000-205475000	Weak transcription	Pancreas	Pancrea
4	chr2:205470800-205474800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:205471200-205474200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:205471600-205473800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr2:205471800-205473800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:205472000-205473600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:205472000-205473600	Enhancers	Liver	Liver
10	chr2:205472000-205473600	Enhancers	Brain Substantia Nigra	brain
11	chr2:205472000-205473600	Enhancers	Fetal Stomach	stomach
12	chr2:205472000-205473800	Enhancers	Adipose Nuclei	Adipose
13	chr2:205472200-205473600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:205472200-205473800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:205472400-205473600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:205472400-205473600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:205472400-205473600	Enhancers	Brain Anterior Caudate	brain
18	chr2:205472400-205473600	Enhancers	Brain Hippocampus Middle	brain
19	chr2:205472400-205473600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr2:205472400-205473600	Enhancers	Right Atrium	heart
21	chr2:205472400-205473600	Enhancers	HSMM	muscle
22	chr2:205472400-205473600	Enhancers	HSMMtube	muscle
23	chr2:205472400-205473600	Enhancers	NHDF-Ad	bronchial
24	chr2:205472400-205473600	Enhancers	Osteobl	bone
25	chr2:205472400-205473800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:205472400-205473800	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:205472400-205474000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:205472400-205475600	Enhancers	Ovary	ovary
29	chr2:205472400-205477400	Enhancers	Fetal Intestine Large	intestine
30	chr2:205472600-205473600	Enhancers	Psoas Muscle	Psoas
31	chr2:205472600-205473600	Enhancers	NH-A	brain
32	chr2:205472600-205473600	Enhancers	NHLF	lung
33	chr2:205472600-205473800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:205472800-205473600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:205473000-205473600	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr2:205473000-205475600	Weak transcription	Fetal Lung	lung
37	chr2:205473200-205473600	Enhancers	Fetal Brain Male	brain
38	chr2:205473200-205473600	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr2:205473200-205474400	Enhancers	Stomach Smooth Muscle	stomach
40	chr2:205473200-205481000	Weak transcription	Aorta	Aorta
41	chr2:205473400-205475400	Weak transcription	Fetal Kidney	kidney
42	chr2:205473400-205476200	Enhancers	Fetal Intestine Small	intestine
43	chr2:205473400-205476600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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