Variant report

Variant	rs12533609
Chromosome Location	chr8:71496988-71496989
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	chr8:71494577..71497220-chr8:71510261..71513127,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10499999	0.87[ASN][1000 genomes]
rs13236103	0.83[ASN][1000 genomes]
rs13247446	0.83[ASN][1000 genomes]
rs1358434	0.80[EUR][1000 genomes]
rs1406050	0.83[ASN][1000 genomes]
rs1528036	0.87[ASN][1000 genomes]
rs17399012	0.89[ASN][1000 genomes]
rs34869998	0.80[AMR][1000 genomes]
rs4730462	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[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	nsv890994	chr8:71240478-71513130	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv890995	chr8:71251004-71512377	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:71459400-71518400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:71477400-71498800	Weak transcription	Hela-S3	cervix
3	chr8:71478000-71515000	Weak transcription	Stomach Mucosa	stomach
4	chr8:71478400-71499000	Weak transcription	Psoas Muscle	Psoas
5	chr8:71485600-71508400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:71486600-71499200	Weak transcription	Small Intestine	intestine
7	chr8:71487200-71504600	Weak transcription	Fetal Heart	heart
8	chr8:71490000-71513800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:71490400-71519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:71490600-71507000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:71490800-71498800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:71490800-71500000	Weak transcription	Fetal Stomach	stomach
13	chr8:71490800-71500200	Weak transcription	Aorta	Aorta
14	chr8:71490800-71500200	Weak transcription	Spleen	Spleen
15	chr8:71490800-71515000	Weak transcription	Gastric	stomach
16	chr8:71491000-71499400	Weak transcription	Fetal Intestine Small	intestine
17	chr8:71491000-71500000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:71491000-71500200	Weak transcription	Esophagus	oesophagus
19	chr8:71491200-71507000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:71491200-71511200	Weak transcription	Pancreas	Pancrea
21	chr8:71491600-71499200	Weak transcription	Ovary	ovary
22	chr8:71491600-71499400	Weak transcription	Right Ventricle	heart
23	chr8:71492000-71498800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:71493400-71499000	Weak transcription	Thymus	Thymus
25	chr8:71494200-71500200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:71494400-71498800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:71494400-71498800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:71494400-71499000	Weak transcription	Lung	lung
29	chr8:71494800-71500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:71495200-71498600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr8:71495200-71498800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:71495200-71498800	Weak transcription	Brain Substantia Nigra	brain
33	chr8:71495200-71499000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:71495200-71499000	Weak transcription	Fetal Lung	lung
35	chr8:71495400-71498800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:71495400-71498800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:71495400-71505800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:71495600-71498800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:71495600-71498800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:71495600-71498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:71495600-71498800	Weak transcription	Primary B cells from cord blood	blood
42	chr8:71495600-71498800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr8:71495600-71498800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:71495600-71498800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr8:71495600-71498800	Weak transcription	Brain Germinal Matrix	brain
46	chr8:71495600-71498800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:71495600-71498800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:71495600-71498800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:71495600-71498800	Weak transcription	HMEC	breast
50	chr8:71495600-71498800	Weak transcription	HSMM	muscle

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