Variant report

Variant	rs10198136
Chromosome Location	chr2:205471355-205471356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10084275	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10170405	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10174747	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10175139	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10490268	0.96[EUR][1000 genomes]
rs10932077	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10932079	0.95[EUR][1000 genomes]
rs10932080	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11674084	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11675511	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11675555	0.94[EUR][1000 genomes]
rs11680708	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12474673	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12474806	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12614238	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12621786	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12694004	0.97[EUR][1000 genomes]
rs13017644	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13024650	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1447497	0.85[CEU][hapmap]
rs1861766	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1868068	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2111447	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2193449	0.95[EUR][1000 genomes]
rs2193450	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2197691	0.85[CEU][hapmap];0.93[JPT][hapmap]
rs2216318	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2216319	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2334802	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4673307	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6721452	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7568847	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7587284	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7590330	0.96[EUR][1000 genomes]
rs7595939	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7600675	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7603507	0.95[EUR][1000 genomes]
rs7609521	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs763832	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9283519	0.91[AMR][1000 genomes];0.97[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
rs10198136	FZD5	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205467400-205477200	Enhancers	Colon Smooth Muscle	Colon
2	chr2:205468200-205472400	Enhancers	Rectal Smooth Muscle	rectum
3	chr2:205468600-205472400	Weak transcription	Left Ventricle	heart
4	chr2:205468600-205475400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:205469000-205471600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:205469000-205472000	Weak transcription	Liver	Liver
7	chr2:205469000-205472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:205469000-205472400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:205469000-205472400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:205469200-205472000	Weak transcription	Adipose Nuclei	Adipose
11	chr2:205469200-205473000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:205469400-205471600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:205469400-205472400	Weak transcription	Aorta	Aorta
14	chr2:205469600-205472200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:205469600-205472400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:205469600-205472400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:205469800-205472400	Weak transcription	HSMM	muscle
18	chr2:205469800-205472400	Weak transcription	HSMMtube	muscle
19	chr2:205469800-205472600	Weak transcription	Psoas Muscle	Psoas
20	chr2:205469800-205472800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:205470000-205472400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:205470000-205472400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:205470000-205472400	Weak transcription	Ovary	ovary
24	chr2:205470000-205472400	Weak transcription	Right Atrium	heart
25	chr2:205470000-205475000	Weak transcription	Pancreas	Pancrea
26	chr2:205470600-205472000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:205470800-205474800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:205471200-205473400	Enhancers	Fetal Kidney	kidney
29	chr2:205471200-205474200	Enhancers	Cortex derived primary cultured neurospheres	brain

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