Variant report

Variant	rs2794467
Chromosome Location	chr13:51247210-51247211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:51244981..51247308-chr13:51258200..51260346,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1935174	0.84[EUR][1000 genomes]
rs2794460	0.93[ASN][1000 genomes]
rs2796843	0.93[ASN][1000 genomes]
rs3095526	0.94[ASN][1000 genomes]
rs3116619	0.84[EUR][1000 genomes]
rs3123270	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
2	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753864	chr13:51136699-51375199	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51241400-51249800	Weak transcription	Right Ventricle	heart
2	chr13:51243200-51251800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:51243400-51249800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:51243800-51247400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:51244800-51247400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:51244800-51249800	Weak transcription	Left Ventricle	heart
7	chr13:51244800-51249800	Weak transcription	Psoas Muscle	Psoas
8	chr13:51244800-51258200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr13:51245200-51247400	Enhancers	HepG2	liver
10	chr13:51245200-51247600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr13:51245200-51252000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr13:51245600-51249000	Weak transcription	Fetal Intestine Large	intestine
13	chr13:51245800-51249800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:51245800-51250000	Weak transcription	HUVEC	blood vessel
15	chr13:51246400-51247600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:51246400-51249800	Weak transcription	Adipose Nuclei	Adipose
17	chr13:51246600-51247400	Enhancers	Pancreas	Pancrea
18	chr13:51246600-51247600	Enhancers	Placenta	Placenta
19	chr13:51246600-51253600	Enhancers	Fetal Thymus	thymus
20	chr13:51246800-51250000	Weak transcription	Fetal Intestine Small	intestine
21	chr13:51246800-51250600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:51246800-51250600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:51246800-51250600	Weak transcription	NHEK	skin
24	chr13:51247000-51250400	Weak transcription	NHDF-Ad	bronchial
25	chr13:51247200-51247400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:51247200-51250000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:51247200-51250000	Weak transcription	Osteobl	bone
28	chr13:51247200-51250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr13:51247200-51250400	Weak transcription	HMEC	breast
30	chr13:51247200-51250600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:51247200-51250600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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