Variant report

Variant	rs12428597
Chromosome Location	chr13:30595237-30595238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30593860..30596414-chr13:30619534..30622191,2	MCF-7	breast:
2	chr13:30594873..30597210-chr13:30677151..30678863,2	MCF-7	breast:
3	chr13:30577169..30579617-chr13:30592820..30595697,3	MCF-7	breast:
4	chr13:30594943..30595656-chr13:30646084..30646955,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11616638	0.86[EUR][1000 genomes]
rs11617134	0.86[EUR][1000 genomes]
rs11619623	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11620285	0.86[EUR][1000 genomes]
rs17588454	0.86[EUR][1000 genomes]
rs59372413	0.86[EUR][1000 genomes]
rs60452760	0.86[EUR][1000 genomes]
rs73159380	0.86[EUR][1000 genomes]
rs73159381	0.86[EUR][1000 genomes]
rs73159382	0.86[EUR][1000 genomes]
rs73159383	0.86[EUR][1000 genomes]
rs73159384	0.86[EUR][1000 genomes]
rs73161505	0.86[EUR][1000 genomes]
rs73161506	0.86[EUR][1000 genomes]
rs73161518	0.87[ASN][1000 genomes]
rs7317000	0.86[EUR][1000 genomes]
rs7321805	0.90[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30591600-30595400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr13:30591600-30595400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr13:30592000-30599400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr13:30592200-30600600	Weak transcription	Right Atrium	heart
5	chr13:30593000-30599000	Weak transcription	Brain Anterior Caudate	brain
6	chr13:30593200-30606600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:30593400-30595800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30593800-30600000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:30594000-30595400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr13:30594000-30595600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:30594000-30596000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:30594000-30596600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:30594200-30595600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:30594200-30595800	Enhancers	HSMM	muscle
15	chr13:30594200-30596000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:30594200-30596400	Enhancers	Osteobl	bone
17	chr13:30594200-30596800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:30594200-30597200	Enhancers	NHDF-Ad	bronchial
19	chr13:30594400-30595600	Enhancers	NH-A	brain
20	chr13:30594400-30595800	Enhancers	NHEK	skin
21	chr13:30594400-30598800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr13:30594400-30599000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr13:30594600-30596400	Weak transcription	Placenta	Placenta
24	chr13:30594600-30599200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr13:30594800-30596000	Enhancers	HSMMtube	muscle
26	chr13:30594800-30597400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:30595000-30595400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr13:30595000-30595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:30595000-30595600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr13:30595000-30595600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr13:30595000-30595800	Enhancers	NHLF	lung
32	chr13:30595000-30596000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:30595000-30596200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:30595200-30595600	Enhancers	Pancreas	Pancrea
35	chr13:30595200-30595600	Enhancers	Spleen	Spleen
36	chr13:30595200-30596400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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