Variant report

Variant	rs55715916
Chromosome Location	chr13:51253056-51253057
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	chr13:51218577..51220101-chr13:51250986..51253553,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1641299	1.00[ASN][1000 genomes]
rs55824141	0.83[ASN][1000 genomes]
rs56068061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184426	1.00[AFR][1000 genomes]
rs797473	0.83[ASN][1000 genomes]
rs797476	0.83[ASN][1000 genomes]
rs797480	0.83[ASN][1000 genomes]
rs797484	0.83[ASN][1000 genomes]
rs797514	1.00[ASN][1000 genomes]
rs813328	1.00[ASN][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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51244800-51258200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr13:51246600-51253600	Enhancers	Fetal Thymus	thymus
3	chr13:51247400-51260200	Weak transcription	HepG2	liver
4	chr13:51248000-51253400	Enhancers	Thymus	Thymus
5	chr13:51249600-51253400	Enhancers	Right Atrium	heart
6	chr13:51249800-51253400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:51249800-51253400	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr13:51249800-51253400	Enhancers	Fetal Muscle Leg	muscle
9	chr13:51250000-51253400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:51250000-51255200	Enhancers	Osteobl	bone
11	chr13:51250000-51256200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:51250200-51254000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:51250200-51254400	Enhancers	HSMMtube	muscle
14	chr13:51250400-51253400	Enhancers	K562	blood
15	chr13:51250400-51253600	Enhancers	NHDF-Ad	bronchial
16	chr13:51250400-51254000	Enhancers	HMEC	breast
17	chr13:51250400-51254400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:51250400-51258400	Weak transcription	Psoas Muscle	Psoas
19	chr13:51250600-51253400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:51250600-51253400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr13:51250600-51253400	Enhancers	NHLF	lung
22	chr13:51250600-51254000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:51250600-51254000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:51250600-51254200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:51250600-51254800	Enhancers	Fetal Heart	heart
26	chr13:51251000-51253400	Enhancers	Esophagus	oesophagus
27	chr13:51251400-51261000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr13:51251400-51265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:51251600-51253600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:51251800-51253400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr13:51252000-51253200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr13:51252000-51253800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:51252400-51253200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr13:51252400-51253200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:51252400-51253200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:51252400-51253200	Weak transcription	NHEK	skin
37	chr13:51252400-51253600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:51252400-51253600	Flanking Active TSS	NH-A	brain
39	chr13:51252400-51254400	Enhancers	HUVEC	blood vessel
40	chr13:51252600-51253200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr13:51252600-51253400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:51252800-51253200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:51252800-51253400	Flanking Active TSS	HSMM	muscle
44	chr13:51252800-51253600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr13:51252800-51253800	Enhancers	Brain Substantia Nigra	brain
46	chr13:51252800-51254400	Enhancers	Brain Cingulate Gyrus	brain
47	chr13:51252800-51256800	Weak transcription	Dnd41	blood
48	chr13:51252800-51257800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:51253000-51253200	Enhancers	Brain Anterior Caudate	brain
50	chr13:51253000-51253400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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