Variant report

No.	Distal block	Cell Line	Cell type
1	chr12:74934893..74937822-chr12:74975475..74977928,2	MCF-7	breast:
2	chr12:74970601..74973443-chr12:74975615..74977116,2	K562	blood:
3	chr12:74971535..74973853-chr12:74975253..74978163,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10506696	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12315155	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1389488	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs1493813	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17113550	0.82[EUR][1000 genomes]
rs17113561	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs17113566	0.85[ASN][1000 genomes]
rs17113587	0.85[ASN][1000 genomes]
rs17113703	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs17113716	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17113730	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17113736	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17113745	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17113753	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17179283	0.90[GIH][hapmap]
rs17179465	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17772239	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2605349	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2605378	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2613897	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2613898	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2641455	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2641456	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2661710	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2934408	0.85[ASN][1000 genomes]
rs4550284	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs5002508	0.89[EUR][1000 genomes]
rs7973277	0.85[ASN][1000 genomes]
rs903168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs996431	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv899293	chr12:74835107-74995760	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv899295	chr12:74854750-74984992	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74973400-74980000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:74973800-74978400	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:74974600-74976000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:74974600-74976000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:74974600-74976000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:74974800-74975800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:74975200-74975800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:74975200-74975800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr12:74975400-74975800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:74975400-74980000	Weak transcription	Stomach Mucosa	stomach

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