Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67516496..67518778-chr2:67521875..67524177,2	MCF-7	breast:
2	chr2:67485040..67487535-chr2:67517443..67519386,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10172022	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10198347	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10199961	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10865359	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1318886	0.84[EUR][1000 genomes]
rs13385154	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1384745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17033374	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17605887	1.00[CHB][hapmap]
rs28373341	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6719169	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6746454	0.89[ASN][1000 genomes]
rs72895607	0.87[AMR][1000 genomes];0.85[EUR][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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67516000-67518600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:67516000-67518600	Enhancers	NHEK	skin
3	chr2:67516000-67519200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:67516400-67518400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:67516400-67518400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:67516400-67518600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:67516400-67518600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:67516400-67518600	Enhancers	NHLF	lung
9	chr2:67516600-67518400	Enhancers	NH-A	brain
10	chr2:67516600-67518600	Enhancers	HUVEC	blood vessel
11	chr2:67516600-67518600	Enhancers	Osteobl	bone
12	chr2:67516800-67518400	Enhancers	HSMMtube	muscle
13	chr2:67517000-67519200	Enhancers	Hela-S3	cervix
14	chr2:67517000-67521000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:67517000-67522400	Weak transcription	A549	lung
16	chr2:67517000-67523000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:67517400-67518600	Enhancers	HSMM	muscle
18	chr2:67517800-67518600	Enhancers	HMEC	breast
19	chr2:67518000-67518600	Enhancers	Placenta Amnion	Placenta Amnion
20	chr2:67518000-67519000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:67518200-67518600	Enhancers	NHDF-Ad	bronchial

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