Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127210963..127213061-chr5:127280494..127282424,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10065448	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs10072806	0.94[JPT][hapmap]
rs10074995	0.89[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs10079317	0.90[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs10463834	0.90[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs10900794	0.85[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs11740438	0.94[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs11740439	0.89[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs11741283	0.85[ASN][1000 genomes]
rs12517005	0.85[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs12658023	0.90[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs13361741	0.89[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs1520246	0.88[JPT][hapmap]
rs1558149	0.83[JPT][hapmap]
rs2286386	0.83[ASN][1000 genomes]
rs2409037	0.85[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs28473744	0.84[ASN][1000 genomes]
rs28542972	0.84[ASN][1000 genomes]
rs28567046	0.84[ASN][1000 genomes]
rs28591675	0.86[ASN][1000 genomes]
rs28636438	0.84[ASN][1000 genomes]
rs28687461	0.84[ASN][1000 genomes]
rs28736542	0.84[ASN][1000 genomes]
rs28816429	0.84[ASN][1000 genomes]
rs4612116	0.90[ASN][1000 genomes]
rs4836345	0.88[JPT][hapmap]
rs55896045	0.85[ASN][1000 genomes]
rs6877403	0.85[ASN][1000 genomes]
rs6898956	0.85[ASN][1000 genomes]
rs9327457	0.89[JPT][hapmap]
rs9327459	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:127269800-127292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:127271200-127294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:127274400-127287000	Weak transcription	Primary T cells from cord blood	blood
5	chr5:127274800-127295000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127274800-127296000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:127276600-127281800	Enhancers	A549	lung
8	chr5:127278400-127281800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:127278400-127283000	Weak transcription	HMEC	breast
10	chr5:127278400-127286400	Weak transcription	Fetal Intestine Large	intestine
11	chr5:127278400-127286400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:127278400-127292800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:127278400-127292800	Weak transcription	Brain Substantia Nigra	brain
14	chr5:127278400-127292800	Weak transcription	HSMM	muscle
15	chr5:127278400-127294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:127278400-127295600	Weak transcription	HSMMtube	muscle
17	chr5:127279200-127281200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:127279200-127281400	Weak transcription	Small Intestine	intestine
19	chr5:127280200-127292800	Weak transcription	Gastric	stomach

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