Variant report

Variant	rs12495193
Chromosome Location	chr3:81514454-81514455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:81510208..81513532-chr3:81513585..81516903,3	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1094000	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11920473	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1492886	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1565678	0.82[ASN][1000 genomes]
rs1675838	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17202181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029660	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2126221	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2131369	1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2372908	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs276114	0.80[EUR][1000 genomes]
rs276125	0.80[EUR][1000 genomes]
rs276128	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3772914	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821554	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4362742	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6548768	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6548769	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6548771	0.86[CEU][hapmap]
rs6785616	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6785735	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6790522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6792379	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6794343	0.84[ASN][1000 genomes]
rs6800135	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7621067	0.86[CEU][hapmap];1.00[JPT][hapmap]
rs820268	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs820269	1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs820270	1.00[JPT][hapmap];0.85[YRI][hapmap];0.84[ASN][1000 genomes]
rs820271	0.84[ASN][1000 genomes]
rs820273	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs820277	0.88[ASN][1000 genomes]
rs843940	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs846	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9309872	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9309875	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9681347	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9814053	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9814734	0.86[CEU][hapmap]
rs9819406	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9835378	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9846154	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9869348	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9871153	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][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	nsv934018	chr3:81413060-81655338	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv933756	chr3:81413060-81754738	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1003217	chr3:81435044-81752521	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1012133	chr3:81499082-81817471	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81510200-81517000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:81512600-81515200	Weak transcription	Lung	lung
3	chr3:81513400-81514600	Weak transcription	NHDF-Ad	bronchial
4	chr3:81513600-81524000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:81514400-81515600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:81514400-81515800	Enhancers	HUVEC	blood vessel

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