Variant report

Variant	rs13390062
Chromosome Location	chr2:31349283-31349284
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	chr2:31348773..31351647-chr2:31359918..31362358,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158089	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs13413655	0.87[ASN][1000 genomes]
rs13413867	0.87[ASN][1000 genomes]
rs13427784	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427860	0.81[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.93[MKK][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31343800-31350800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:31345400-31351200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:31345400-31351400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:31347800-31358800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:31348000-31351400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:31348200-31349600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:31348600-31349800	Enhancers	NHEK	skin
8	chr2:31348800-31349600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:31348800-31349600	Enhancers	NH-A	brain
10	chr2:31348800-31349800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:31348800-31349800	Flanking Active TSS	A549	lung
12	chr2:31348800-31350000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:31349000-31349400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr2:31349000-31349600	Enhancers	HMEC	breast
15	chr2:31349000-31349800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:31349000-31350000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:31349000-31350000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:31349000-31350200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:31349000-31351200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:31349000-31351400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:31349200-31349400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:31349200-31349400	Bivalent Enhancer	Fetal Lung	lung

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