Variant report

Variant	rs10454966
Chromosome Location	chr5:167241065-167241066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10064302	1.00[ASN][1000 genomes]
rs10064701	1.00[ASN][1000 genomes]
rs10068821	1.00[ASN][1000 genomes]
rs10072896	1.00[ASN][1000 genomes]
rs10454960	0.82[ASW][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap]
rs11948139	1.00[ASN][1000 genomes]
rs13357813	1.00[ASN][1000 genomes]
rs13357822	1.00[ASN][1000 genomes]
rs13436693	1.00[ASN][1000 genomes]
rs1549309	0.89[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs17069188	1.00[ASN][1000 genomes]
rs1862875	0.88[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2337001	1.00[ASN][1000 genomes]
rs34725756	1.00[ASN][1000 genomes]
rs35325704	1.00[ASN][1000 genomes]
rs4242225	1.00[ASN][1000 genomes]
rs4869077	1.00[ASN][1000 genomes]
rs57989047	1.00[ASN][1000 genomes]
rs66525444	1.00[ASN][1000 genomes]
rs66851511	1.00[ASN][1000 genomes]
rs72830099	1.00[ASN][1000 genomes]
rs7448951	0.94[CEU][hapmap];0.81[GIH][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9313387	0.88[CEU][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9313388	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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription 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	5 gene(s)	inside rSNPs	diseases
2	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10454966	WWC1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167230000-167242000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:167230600-167242000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:167230600-167242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:167232800-167241200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:167237400-167242000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:167237800-167241800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:167238400-167246600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:167239200-167241400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:167239200-167243600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:167239400-167241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:167239400-167242800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:167239600-167242600	Enhancers	NHEK	skin
13	chr5:167239600-167243400	Enhancers	HMEC	breast
14	chr5:167239600-167244200	Enhancers	HSMM	muscle
15	chr5:167239800-167241200	Enhancers	A549	lung
16	chr5:167239800-167241400	Enhancers	Stomach Mucosa	stomach
17	chr5:167239800-167241600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:167240000-167241400	Enhancers	Osteobl	bone
19	chr5:167240000-167250600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:167240400-167242200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:167240600-167241800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:167240600-167241800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:167240600-167246000	Weak transcription	Fetal Thymus	thymus
24	chr5:167240800-167241800	Weak transcription	Pancreas	Pancrea
25	chr5:167241000-167241400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:167241000-167242000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:167241000-167243600	Enhancers	NH-A	brain
28	chr5:167241000-167246000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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