Variant report

Variant	rs56344326
Chromosome Location	chr13:49938508-49938509
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	chr13:49937629..49939824-chr13:49947316..49949983,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58646564	1.00[AMR][1000 genomes]
rs60549375	1.00[AMR][1000 genomes]
rs60948185	1.00[AMR][1000 genomes]
rs61063436	1.00[AMR][1000 genomes]
rs74072521	1.00[AMR][1000 genomes]
rs74072523	1.00[AMR][1000 genomes]
rs74072526	1.00[AMR][1000 genomes]
rs74072535	1.00[AMR][1000 genomes]
rs74072536	1.00[AMR][1000 genomes]
rs74072537	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49889000-49944600	Weak transcription	Brain Angular Gyrus	brain
2	chr13:49889000-49947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr13:49889200-49944600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:49912600-49948800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:49915000-49941400	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:49922400-49940800	Weak transcription	Lung	lung
7	chr13:49922400-49946600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:49922400-49947800	Weak transcription	Right Ventricle	heart
9	chr13:49922800-49951400	Weak transcription	Gastric	stomach
10	chr13:49923200-49951200	Weak transcription	Pancreas	Pancrea
11	chr13:49929400-49950000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:49932200-49941800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:49932200-49944600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:49932400-49941400	Weak transcription	NHLF	lung
15	chr13:49933800-49941600	Weak transcription	Ovary	ovary
16	chr13:49934200-49941400	Weak transcription	Fetal Heart	heart
17	chr13:49934200-49942600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:49934200-49957400	Weak transcription	Left Ventricle	heart
19	chr13:49935000-49940800	Weak transcription	Aorta	Aorta
20	chr13:49937800-49938600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:49937800-49942200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr13:49938400-49938600	ZNF genes & repeats	Primary B cells from cord blood	blood
23	chr13:49938400-49938600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:49938400-49941000	Weak transcription	Stomach Smooth Muscle	stomach

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