Variant report

Variant	rs17470866
Chromosome Location	chr3:43186734-43186735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43185520..43188169-chr3:43190892..43193129,2	K562	blood:
2	chr3:43186669..43188659-chr3:43190561..43193129,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1125065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11925735	1.00[ASN][1000 genomes]
rs12495981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12497427	0.85[MEX][hapmap]
rs13327174	0.99[ASN][1000 genomes]
rs1523126	0.85[MEX][hapmap]
rs17405306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1815070	0.85[MEX][hapmap]
rs2008369	0.82[ASN][1000 genomes]
rs2372336	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57507574	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58512215	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73083260	0.91[ASN][1000 genomes]
rs73084637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73084642	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73084648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73084651	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73084652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7625507	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9810300	0.93[ASN][1000 genomes]
rs9848658	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9848907	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[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	nsv834672	chr3:43132722-43306272	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv3784	chr3:43176397-43221254	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17470866	CCDC13	cis	parietal	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43184200-43186800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:43184400-43188600	Weak transcription	HepG2	liver
3	chr3:43184800-43186800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr3:43184800-43186800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr3:43185400-43186800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:43186200-43186800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:43186200-43186800	Enhancers	K562	blood
8	chr3:43186200-43187000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:43186200-43187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:43186200-43187400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr3:43186200-43187400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:43186400-43186800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:43186400-43186800	Flanking Active TSS	Osteobl	bone
14	chr3:43186400-43187000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:43186400-43187200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:43186400-43187400	Enhancers	HUVEC	blood vessel
17	chr3:43186600-43187200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:43186600-43187600	Weak transcription	Fetal Muscle Leg	muscle

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