Variant report

No.	Distal block	Cell Line	Cell type
1	chr8:49778159..49780891-chr8:49797440..49799639,2	MCF-7	breast:
2	chr8:49780791..49782303-chr8:49784724..49787609,2	MCF-7	breast:
3	chr8:49779071..49781772-chr8:49783662..49786146,3	K562	blood:
4	chr8:49777643..49779526-chr8:49780548..49782346,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10087909	1.00[MEX][hapmap]
rs10103620	1.00[MEX][hapmap]
rs11785222	0.85[LWK][hapmap];0.82[YRI][hapmap]
rs1561657	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16919006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938569	1.00[MEX][hapmap]
rs16938743	1.00[MEX][hapmap]
rs16938984	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938987	1.00[MEX][hapmap]
rs16938989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16938994	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16939026	1.00[EUR][1000 genomes]
rs16939027	1.00[EUR][1000 genomes]
rs6472030	1.00[MEX][hapmap]
rs6472036	1.00[MEX][hapmap]
rs6989173	1.00[MEX][hapmap]
rs72640548	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640550	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640551	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640555	1.00[EUR][1000 genomes]
rs72640561	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640562	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640563	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640569	0.92[EUR][1000 genomes]
rs7464556	0.96[EUR][1000 genomes]
rs7827154	1.00[MEX][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr8:49776800-49782400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr8:49776800-49782400	Weak transcription	Fetal Brain Female	brain
3	chr8:49778000-49781600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:49778400-49782400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:49778600-49781800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:49779000-49781600	Weak transcription	Fetal Brain Male	brain
7	chr8:49779000-49782400	Weak transcription	Esophagus	oesophagus
8	chr8:49779200-49781800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:49780200-49782400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr8:49780200-49782400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:49780200-49782400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:49780600-49781000	Enhancers	Fetal Stomach	stomach
13	chr8:49780600-49781200	Enhancers	HMEC	breast
14	chr8:49780600-49782400	Enhancers	NHEK	skin
15	chr8:49780600-49782600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:49780600-49782800	Weak transcription	Spleen	Spleen
17	chr8:49780800-49781000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:49780800-49781800	Weak transcription	Fetal Lung	lung
19	chr8:49780800-49782400	Weak transcription	Ovary	ovary

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