Variant report

Variant	rs12430280
Chromosome Location	chr13:110902142-110902143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110884811..110886998-chr13:110899690..110902649,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12428227	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56672585	0.82[EUR][1000 genomes]
rs9588125	0.95[AMR][1000 genomes];0.97[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	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110882600-110913600	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:110884200-110902200	Weak transcription	HMEC	breast
3	chr13:110884600-110902400	Weak transcription	NHEK	skin
4	chr13:110884800-110914000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:110889600-110904200	Enhancers	NHDF-Ad	bronchial
6	chr13:110891400-110908600	Weak transcription	Psoas Muscle	Psoas
7	chr13:110894600-110912200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:110895200-110903800	Enhancers	Colon Smooth Muscle	Colon
9	chr13:110895600-110903800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr13:110896000-110904400	Enhancers	NHLF	lung
11	chr13:110896200-110904400	Enhancers	Rectal Smooth Muscle	rectum
12	chr13:110896800-110902200	Genic enhancers	Osteobl	bone
13	chr13:110896800-110904400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:110897800-110914200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:110897800-110914800	Weak transcription	Stomach Mucosa	stomach
16	chr13:110899000-110902800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:110899000-110904200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:110899200-110903000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr13:110899400-110902600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:110899400-110903200	Enhancers	Fetal Lung	lung
21	chr13:110899400-110907400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr13:110899400-110907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:110899600-110903400	Weak transcription	Small Intestine	intestine
24	chr13:110900000-110908600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr13:110900000-110916200	Weak transcription	A549	lung
26	chr13:110900200-110903000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:110900400-110902200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:110900400-110903000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr13:110900400-110903800	Genic enhancers	Fetal Muscle Leg	muscle
30	chr13:110900400-110913600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr13:110900600-110902200	Enhancers	Ovary	ovary
32	chr13:110900600-110902200	Enhancers	Right Atrium	heart
33	chr13:110900600-110902800	Weak transcription	Fetal Kidney	kidney
34	chr13:110900600-110904200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr13:110900600-110904400	Weak transcription	Brain Hippocampus Middle	brain
36	chr13:110900600-110913600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr13:110900800-110902400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:110900800-110903200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr13:110900800-110907400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:110901000-110902200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr13:110901000-110902600	Weak transcription	Right Ventricle	heart
42	chr13:110901000-110902800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr13:110901000-110903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:110901000-110903400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:110901000-110903400	Weak transcription	Pancreas	Pancrea
46	chr13:110901000-110904400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:110901000-110907400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr13:110901000-110913600	Weak transcription	Fetal Intestine Large	intestine
49	chr13:110901000-110919400	Weak transcription	Fetal Brain Male	brain
50	chr13:110901200-110903000	Genic enhancers	Stomach Smooth Muscle	stomach

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