Variant report

Variant	rs55962112
Chromosome Location	chr13:39922919-39922920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56285908	1.00[AMR][1000 genomes]
rs56983422	1.00[AMR][1000 genomes]
rs57101154	1.00[AMR][1000 genomes]
rs73453717	1.00[AMR][1000 genomes]
rs74044025	1.00[AMR][1000 genomes]
rs74044026	1.00[AMR][1000 genomes]
rs74044027	1.00[AMR][1000 genomes]
rs74044028	1.00[AMR][1000 genomes]
rs74044030	1.00[AMR][1000 genomes]
rs74044034	1.00[AMR][1000 genomes]
rs74044035	1.00[AMR][1000 genomes]
rs74044037	1.00[AMR][1000 genomes]
rs74044041	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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036674	chr13:39841482-40008117	Bivalent Enhancer Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39904200-39923600	Weak transcription	Ovary	ovary
2	chr13:39910600-39924400	Weak transcription	Adipose Nuclei	Adipose
3	chr13:39912400-39924600	Weak transcription	Fetal Lung	lung
4	chr13:39914200-39924400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:39914800-39924600	Weak transcription	Fetal Stomach	stomach
6	chr13:39915800-39924200	Weak transcription	Osteobl	bone
7	chr13:39916200-39928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:39916800-39928000	Weak transcription	NHDF-Ad	bronchial
9	chr13:39918200-39928000	Weak transcription	Esophagus	oesophagus
10	chr13:39918400-39923800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:39919800-39923000	Enhancers	Right Atrium	heart
12	chr13:39920400-39923800	Weak transcription	HSMMtube	muscle
13	chr13:39921600-39923000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:39921800-39925400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr13:39922000-39923000	Enhancers	Left Ventricle	heart
16	chr13:39922200-39923000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:39922200-39923000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:39922200-39923000	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr13:39922200-39923200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr13:39922200-39923200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:39922200-39923200	Enhancers	Fetal Muscle Leg	muscle
22	chr13:39922200-39923600	Enhancers	Brain Germinal Matrix	brain
23	chr13:39922200-39924600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr13:39922200-39925200	Enhancers	Brain Cingulate Gyrus	brain
25	chr13:39922200-39925400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:39922200-39925400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:39922200-39925400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:39922200-39925600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:39922400-39923000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:39922400-39923000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr13:39922400-39923000	Enhancers	Lung	lung
32	chr13:39922400-39923000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr13:39922400-39923000	Enhancers	Small Intestine	intestine
34	chr13:39922400-39923000	Enhancers	Stomach Mucosa	stomach
35	chr13:39922400-39923200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr13:39922400-39923200	Enhancers	Brain Angular Gyrus	brain
37	chr13:39922400-39923600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr13:39922400-39924600	Enhancers	Aorta	Aorta
39	chr13:39922400-39925000	Enhancers	Brain Hippocampus Middle	brain
40	chr13:39922400-39925200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr13:39922600-39923000	Enhancers	Duodenum Mucosa	Duodenum
42	chr13:39922600-39923000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:39922600-39923200	Enhancers	Brain Anterior Caudate	brain
44	chr13:39922600-39923200	Enhancers	Right Ventricle	heart
45	chr13:39922600-39923800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr13:39922600-39923800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:39922600-39924600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr13:39922600-39924600	Enhancers	Fetal Heart	heart
49	chr13:39922600-39924800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr13:39922600-39925400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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