Variant report

Variant	rs12630075
Chromosome Location	chr3:144064788-144064789
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:144060304..144063071-chr3:144063118..144065175,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12629763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12632207	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12632605	0.93[ASN][1000 genomes]
rs12633232	0.86[ASN][1000 genomes]
rs12633585	0.86[ASN][1000 genomes]
rs12634524	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12634939	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12636393	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12637613	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1503324	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1608999	1.00[CHB][hapmap]
rs183838	0.82[CHB][hapmap]
rs41401847	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41430844	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56247328	1.00[EUR][1000 genomes]
rs57317338	1.00[EUR][1000 genomes]
rs57444904	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61146072	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61200466	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440244	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6762994	1.00[EUR][1000 genomes]
rs6770469	0.90[ASN][1000 genomes]
rs72999937	0.93[ASN][1000 genomes]
rs72999962	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72999980	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72999982	0.96[ASN][1000 genomes]
rs72999985	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72999988	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72999989	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72999991	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73000000	0.96[ASN][1000 genomes]
rs73000002	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73001805	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73005843	1.00[EUR][1000 genomes]
rs73873256	1.00[EUR][1000 genomes]
rs73873257	1.00[EUR][1000 genomes]
rs7622410	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs9835986	1.00[CHB][hapmap]
rs9878391	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1002032	chr3:143848755-144065468	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv877570	chr3:143853149-144123401	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1011685	chr3:143959237-144218424	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv536751	chr3:143959237-144218424	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144062600-144065600	Enhancers	Dnd41	blood
2	chr3:144063200-144065400	Weak transcription	Ovary	ovary
3	chr3:144063400-144068400	Weak transcription	Fetal Lung	lung
4	chr3:144064000-144064800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:144064200-144064800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:144064200-144065400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:144064200-144068400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr3:144064400-144069800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr3:144064600-144069600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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