Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:189468156..189470886-chr2:189475486..189476986,2	MCF-7	breast:
2	chr2:189466156..189469106-chr2:189473632..189478313,4	MCF-7	breast:
3	chr2:189467356..189470211-chr2:189473685..189475728,2	K562	blood:
4	chr2:189475431..189478005-chr2:189479402..189481105,2	MCF-7	breast:
5	chr2:189474730..189476735-chr2:189484207..189485935,2	K562	blood:

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

rs_ID	r²[population]
rs1092261	0.90[EUR][1000 genomes]
rs11686702	0.82[EUR][1000 genomes]
rs12693504	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13007902	0.83[EUR][1000 genomes]
rs1354902	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs1395867	0.93[EUR][1000 genomes]
rs1395869	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1507562	0.93[EUR][1000 genomes]
rs1605460	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16830169	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2678360	0.84[EUR][1000 genomes]
rs2882532	0.82[EUR][1000 genomes]
rs2945414	0.84[EUR][1000 genomes]
rs3935690	0.82[EUR][1000 genomes]
rs4146571	0.82[EUR][1000 genomes]
rs6434291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs698570	0.83[EUR][1000 genomes]
rs698571	0.83[EUR][1000 genomes]
rs7425417	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7577912	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs781264	0.83[EUR][1000 genomes]
rs781454	0.90[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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189470800-189484000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189472200-189475800	Enhancers	NHDF-Ad	bronchial
3	chr2:189472400-189476000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:189473400-189475800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:189473400-189476200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:189473600-189476200	Enhancers	NHLF	lung
7	chr2:189474000-189475800	Enhancers	Osteobl	bone
8	chr2:189474400-189475800	Enhancers	Fetal Lung	lung
9	chr2:189474600-189475800	Weak transcription	Fetal Intestine Small	intestine
10	chr2:189474800-189475800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:189474800-189476200	Enhancers	Adipose Nuclei	Adipose
12	chr2:189474800-189476400	Enhancers	Ovary	ovary
13	chr2:189475000-189476400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:189475200-189475600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:189475400-189475600	Enhancers	Right Atrium	heart
16	chr2:189475400-189476200	Enhancers	Rectal Smooth Muscle	rectum

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