Variant report

Variant	rs56132124
Chromosome Location	chr13:49877950-49877951
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	chr13:49870136..49872971-chr13:49876994..49878672,2	MCF-7	breast:
2	chr13:49877297..49879495-chr13:49894000..49896980,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs74072504	1.00[AMR][1000 genomes]
rs74072800	1.00[AMR][1000 genomes]
rs74074520	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7989586	1.00[AMR][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49854000-49883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr13:49867200-49884200	Weak transcription	Fetal Brain Female	brain
3	chr13:49869200-49879200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:49869600-49882200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:49871600-49880400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:49872200-49878600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:49873800-49878000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:49874800-49878000	Enhancers	Fetal Thymus	thymus
9	chr13:49875000-49878200	Enhancers	Brain Cingulate Gyrus	brain
10	chr13:49875200-49878200	Enhancers	Gastric	stomach
11	chr13:49875200-49880400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr13:49875400-49878600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr13:49875600-49878200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:49875600-49878200	Enhancers	Right Ventricle	heart
15	chr13:49875800-49878400	Enhancers	Brain Hippocampus Middle	brain
16	chr13:49875800-49878400	Enhancers	Brain Substantia Nigra	brain
17	chr13:49875800-49878400	Enhancers	Fetal Muscle Trunk	muscle
18	chr13:49875800-49879000	Weak transcription	Fetal Kidney	kidney
19	chr13:49875800-49879400	Enhancers	Brain Angular Gyrus	brain
20	chr13:49875800-49881400	Weak transcription	Fetal Lung	lung
21	chr13:49875800-49883800	Weak transcription	Fetal Intestine Small	intestine
22	chr13:49875800-49884000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr13:49875800-49884200	Weak transcription	Primary T cells from cord blood	blood
24	chr13:49875800-49887800	Weak transcription	Fetal Intestine Large	intestine
25	chr13:49875800-49887800	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr13:49875800-49891000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:49876000-49879800	Weak transcription	Primary B cells from cord blood	blood
28	chr13:49876000-49880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr13:49876000-49881400	Weak transcription	Stomach Mucosa	stomach
30	chr13:49876000-49881600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:49876000-49882200	Weak transcription	Placenta	Placenta
32	chr13:49876000-49884000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:49876200-49879000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr13:49876200-49879800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:49876200-49884200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr13:49876200-49884200	Weak transcription	Brain Germinal Matrix	brain
37	chr13:49876200-49895000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr13:49876200-49935600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr13:49876400-49878400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:49876400-49887800	Weak transcription	Colonic Mucosa	Colon
41	chr13:49876400-49887800	Weak transcription	Fetal Heart	heart
42	chr13:49876400-49887800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:49876600-49879000	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:49876600-49879400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr13:49876800-49878600	Enhancers	HMEC	breast
46	chr13:49877000-49878400	Enhancers	Duodenum Mucosa	Duodenum
47	chr13:49877000-49878800	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr13:49877000-49879000	Enhancers	Spleen	Spleen
49	chr13:49877000-49879400	Enhancers	Pancreas	Pancrea
50	chr13:49877200-49878000	Weak transcription	Stomach Smooth Muscle	stomach

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