Variant report

Variant	rs12495343
Chromosome Location	chr3:81912911-81912912
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1155277	0.96[CEU][hapmap]
rs11925940	0.80[EUR][1000 genomes]
rs12635671	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1375086	0.92[CEU][hapmap]
rs1404297	0.88[EUR][1000 genomes]
rs1829967	0.89[EUR][1000 genomes]
rs1851917	0.80[EUR][1000 genomes]
rs1973800	0.89[EUR][1000 genomes]
rs1973801	0.89[EUR][1000 genomes]
rs1973804	0.80[EUR][1000 genomes]
rs1997002	0.89[EUR][1000 genomes]
rs2244294	0.89[EUR][1000 genomes]
rs2252530	0.87[EUR][1000 genomes]
rs2594547	0.96[CEU][hapmap]
rs2594549	0.96[CEU][hapmap]
rs2594551	0.96[CEU][hapmap]
rs2594553	0.96[CEU][hapmap]
rs2594558	0.83[EUR][1000 genomes]
rs2594562	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs2680245	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2680246	0.82[EUR][1000 genomes]
rs2680257	0.96[CEU][hapmap]
rs2680260	0.88[EUR][1000 genomes]
rs2680274	0.88[EUR][1000 genomes]
rs2680277	0.91[CEU][hapmap];0.84[EUR][1000 genomes]
rs2680280	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs2691077	0.89[EUR][1000 genomes]
rs2691078	0.89[EUR][1000 genomes]
rs2691079	0.89[EUR][1000 genomes]
rs2691080	0.89[EUR][1000 genomes]
rs2691083	0.89[EUR][1000 genomes]
rs2691084	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2691085	0.81[EUR][1000 genomes]
rs2691089	0.91[EUR][1000 genomes]
rs2691093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2873054	0.84[ASN][1000 genomes]
rs3772899	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs3772902	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4273393	0.80[EUR][1000 genomes]
rs4479621	0.80[EUR][1000 genomes]
rs6765917	0.84[ASN][1000 genomes]
rs6803932	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7611902	0.91[EUR][1000 genomes]
rs7641973	0.80[ASN][1000 genomes]
rs7653333	0.80[EUR][1000 genomes]
rs950904	0.89[EUR][1000 genomes]
rs9810377	0.87[EUR][1000 genomes]
rs9822266	0.91[EUR][1000 genomes]
rs9832088	0.88[EUR][1000 genomes]
rs9841087	0.84[ASN][1000 genomes]
rs9860204	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999992	chr3:81693662-82015969	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv536605	chr3:81693662-82015969	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv441830	chr3:81909338-81923746	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:81909000-81913000	Weak transcription	Fetal Lung	lung
2	chr3:81910400-81913000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:81910400-81915000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:81911000-81913000	Weak transcription	Fetal Heart	heart
5	chr3:81911000-81914200	Enhancers	Dnd41	blood
6	chr3:81911800-81913000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr3:81912200-81913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:81912600-81913800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:81912800-81913200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr3:81912800-81913600	Enhancers	HUVEC	blood vessel
11	chr3:81912800-81913600	Enhancers	Monocytes-CD14+_RO01746	blood

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