Variant report

Variant	rs56126555
Chromosome Location	chr13:30610271-30610272
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30498140..30499691-chr13:30608886..30611160,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17504394	1.00[ASN][1000 genomes]
rs17587784	1.00[ASN][1000 genomes]
rs55804174	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55966797	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73161515	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73161517	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73161519	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73448295	1.00[ASN][1000 genomes]
rs74042848	1.00[ASN][1000 genomes]
rs74043025	1.00[ASN][1000 genomes]
rs9579516	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9579518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579520	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30595200-30612000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:30599800-30611600	Weak transcription	Fetal Brain Male	brain
3	chr13:30606000-30611800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:30606800-30612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:30608200-30613000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:30608600-30612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:30608600-30612800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:30608800-30611800	Weak transcription	NH-A	brain
9	chr13:30608800-30612000	Weak transcription	HSMMtube	muscle
10	chr13:30608800-30612400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:30608800-30613000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:30608800-30613800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:30609000-30611400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:30609000-30611400	Weak transcription	Osteobl	bone
15	chr13:30609000-30612000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:30609000-30612800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr13:30609000-30613000	Weak transcription	HSMM	muscle
18	chr13:30609200-30611200	Weak transcription	NHDF-Ad	bronchial
19	chr13:30609200-30611800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr13:30609800-30611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:30610000-30611200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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