Variant report

Variant	rs12550222
Chromosome Location	chr8:64100595-64100596
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64078480..64080986-chr8:64100261..64102698,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10957275	0.88[EUR][1000 genomes]
rs12056447	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12542182	0.88[EUR][1000 genomes]
rs12542741	0.87[EUR][1000 genomes]
rs12547669	0.87[EUR][1000 genomes]
rs12549833	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12550793	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12677153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12678231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975246	0.82[EUR][1000 genomes]
rs2241753	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34803356	0.87[EUR][1000 genomes]
rs3857972	0.89[EUR][1000 genomes]
rs3929126	0.89[EUR][1000 genomes]
rs4601308	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4737633	0.81[EUR][1000 genomes]
rs4739053	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4739066	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4739068	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61223024	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983011	0.89[EUR][1000 genomes]
rs7000495	0.89[EUR][1000 genomes]
rs7000788	0.89[EUR][1000 genomes]
rs7000927	0.89[EUR][1000 genomes]
rs7001014	0.89[EUR][1000 genomes]
rs7011111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73254967	0.89[EUR][1000 genomes]
rs73254968	0.89[EUR][1000 genomes]
rs73684686	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73684689	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73686707	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73686709	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643383	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9643384	0.89[EUR][1000 genomes]
rs9643556	0.89[EUR][1000 genomes]
rs9643557	0.89[EUR][1000 genomes]
rs9643558	0.89[EUR][1000 genomes]
rs9643559	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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	nsv890965	chr8:64006201-64104092	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64084200-64102200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:64090000-64108200	Weak transcription	Fetal Heart	heart
3	chr8:64093400-64101200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:64093400-64101200	Strong transcription	Placenta	Placenta
5	chr8:64093400-64101800	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:64093400-64102000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:64093400-64102200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr8:64093400-64103000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:64093400-64103800	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:64093600-64100800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:64093600-64101000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:64093600-64101000	Strong transcription	HSMM	muscle
13	chr8:64093600-64101800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:64093600-64101800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:64093600-64102200	Strong transcription	Liver	Liver
16	chr8:64093800-64103600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:64094000-64101400	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:64094400-64100800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:64095400-64103200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:64095800-64101200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr8:64095800-64101800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:64096000-64100600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:64096000-64100800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:64096200-64101000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:64096200-64101200	Strong transcription	A549	lung
26	chr8:64096200-64102400	Strong transcription	K562	blood
27	chr8:64096400-64100600	Strong transcription	Adipose Nuclei	Adipose
28	chr8:64096600-64101000	Strong transcription	HepG2	liver
29	chr8:64097000-64102200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr8:64097000-64108200	Weak transcription	Right Atrium	heart
31	chr8:64097200-64101200	Strong transcription	NHLF	lung
32	chr8:64097400-64101200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr8:64097400-64101600	Strong transcription	Fetal Stomach	stomach
34	chr8:64097400-64102400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr8:64098200-64100600	Strong transcription	Hela-S3	cervix
36	chr8:64098200-64100800	ZNF genes & repeats	Dnd41	blood
37	chr8:64098200-64103600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:64098400-64102800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr8:64098600-64100600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:64098600-64100600	Strong transcription	Brain Cingulate Gyrus	brain
41	chr8:64098600-64100600	Strong transcription	Brain Hippocampus Middle	brain
42	chr8:64098600-64100600	Strong transcription	Colon Smooth Muscle	Colon
43	chr8:64098600-64100600	Strong transcription	Fetal Brain Male	brain
44	chr8:64098600-64100600	Strong transcription	Fetal Kidney	kidney
45	chr8:64098600-64100800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:64098600-64100800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:64098600-64100800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:64098600-64100800	Strong transcription	HSMMtube	muscle
49	chr8:64098600-64101000	Strong transcription	Primary T cells from cord blood	blood
50	chr8:64098600-64101200	Strong transcription	H9 Cell Line	embryonic stem cell

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