Variant report

Variant	rs11147408
Chromosome Location	chr13:30594863-30594864
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	chr13:30593860..30596414-chr13:30619534..30622191,2	MCF-7	breast:
2	chr13:30577169..30579617-chr13:30592820..30595697,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12430614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514669	0.89[ASN][1000 genomes]
rs7333375	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9578154	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30591400-30595000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:30591600-30595400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr13:30591600-30595400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:30592000-30595200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr13:30592000-30599400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr13:30592200-30595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:30592200-30600600	Weak transcription	Right Atrium	heart
8	chr13:30593000-30599000	Weak transcription	Brain Anterior Caudate	brain
9	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr13:30593400-30595200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:30593400-30595800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:30593600-30595000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr13:30593800-30595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr13:30593800-30600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:30594000-30595000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:30594000-30595400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:30594000-30595600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr13:30594000-30596000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:30594000-30596600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:30594200-30595200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr13:30594200-30595600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:30594200-30595800	Enhancers	HSMM	muscle
23	chr13:30594200-30596000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:30594200-30596400	Enhancers	Osteobl	bone
25	chr13:30594200-30596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr13:30594200-30597200	Enhancers	NHDF-Ad	bronchial
27	chr13:30594400-30595200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr13:30594400-30595600	Enhancers	NH-A	brain
29	chr13:30594400-30595800	Enhancers	NHEK	skin
30	chr13:30594400-30598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:30594400-30599000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr13:30594600-30596400	Weak transcription	Placenta	Placenta
33	chr13:30594600-30599200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:30594800-30596000	Enhancers	HSMMtube	muscle
35	chr13:30594800-30597400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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