Variant report

Variant	rs9508588
Chromosome Location	chr13:30482073-30482074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30480230..30482244-chr13:30496884..30498942,2	MCF-7	breast:
2	chr13:30474897..30477785-chr13:30478687..30482625,6	MCF-7	breast:
3	chr13:30430540..30432862-chr13:30481400..30484007,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10444626	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12865275	0.85[EUR][1000 genomes]
rs7994728	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9314987	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9506237	0.85[EUR][1000 genomes]
rs9506240	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9506241	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508586	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9508587	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30476800-30484000	Weak transcription	Esophagus	oesophagus
2	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
3	chr13:30477000-30482200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:30477000-30482400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:30477000-30484800	Weak transcription	A549	lung
6	chr13:30477000-30492400	Weak transcription	Pancreas	Pancrea
7	chr13:30477200-30482400	Weak transcription	NHLF	lung
8	chr13:30477200-30484200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:30477400-30483400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:30477400-30486000	Weak transcription	Adipose Nuclei	Adipose
11	chr13:30477600-30482200	Weak transcription	HSMM	muscle
12	chr13:30477600-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:30477600-30484000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:30477600-30484200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr13:30478600-30482200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:30478600-30482600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr13:30479600-30485200	Enhancers	Hela-S3	cervix
18	chr13:30480200-30482200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:30480200-30482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:30480200-30482200	Weak transcription	HMEC	breast
21	chr13:30480200-30482400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:30480200-30482600	Weak transcription	Fetal Lung	lung
23	chr13:30480200-30483600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr13:30480200-30483800	Weak transcription	Osteobl	bone
25	chr13:30480400-30484200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:30480600-30484200	Weak transcription	Placenta	Placenta
27	chr13:30481000-30485400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:30481200-30482400	Weak transcription	HSMMtube	muscle
29	chr13:30481200-30482600	Weak transcription	Gastric	stomach
30	chr13:30481200-30482600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr13:30481200-30485800	Weak transcription	Stomach Mucosa	stomach
32	chr13:30481400-30482600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr13:30481400-30494000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:30481600-30483000	Enhancers	GM12878-XiMat	blood
35	chr13:30481600-30484800	Enhancers	Fetal Muscle Leg	muscle
36	chr13:30481800-30483800	Enhancers	Fetal Stomach	stomach
37	chr13:30481800-30485000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:30481800-30485000	Enhancers	NHDF-Ad	bronchial
39	chr13:30481800-30485000	Enhancers	NHEK	skin
40	chr13:30482000-30482800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr13:30482000-30483000	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:30482000-30483000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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