Variant report

Variant	rs59931363
Chromosome Location	chr13:49230283-49230284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs61563834	0.83[AFR][1000 genomes]
rs73486881	0.83[AFR][1000 genomes]
rs73486884	0.83[AFR][1000 genomes]
rs73489018	0.83[AFR][1000 genomes]
rs73491077	0.83[AFR][1000 genomes]
rs73491078	0.83[AFR][1000 genomes]
rs73493004	0.83[AFR][1000 genomes]
rs73493053	0.83[AFR][1000 genomes]
rs73493074	0.83[AFR][1000 genomes]
rs73493084	1.00[AFR][1000 genomes]
rs73493090	0.83[AFR][1000 genomes]
rs73495023	1.00[AFR][1000 genomes]
rs73495103	0.83[AFR][1000 genomes]
rs73495147	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	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
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49227600-49230400	Weak transcription	Fetal Intestine Large	intestine
2	chr13:49228000-49230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:49228000-49230400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr13:49228000-49230800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:49228200-49230400	Weak transcription	Fetal Intestine Small	intestine
6	chr13:49228200-49230600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr13:49228200-49230600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49228200-49230600	Weak transcription	Brain Hippocampus Middle	brain
9	chr13:49228200-49231400	Weak transcription	Placenta	Placenta
10	chr13:49228200-49234200	Weak transcription	GM12878-XiMat	blood
11	chr13:49228400-49230600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr13:49228600-49230400	Weak transcription	Thymus	Thymus
13	chr13:49228600-49231400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr13:49228800-49231200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:49228800-49231400	Flanking Active TSS	Dnd41	blood
16	chr13:49229000-49230600	Weak transcription	Fetal Lung	lung
17	chr13:49229000-49231200	Enhancers	Adipose Nuclei	Adipose
18	chr13:49229000-49231400	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr13:49229000-49234600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:49229000-49236800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr13:49229400-49231400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr13:49229600-49232600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:49229600-49234600	Weak transcription	Primary T cells from cord blood	blood
24	chr13:49229600-49235000	Weak transcription	Gastric	stomach
25	chr13:49229800-49230400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr13:49229800-49230600	Weak transcription	Brain Anterior Caudate	brain
27	chr13:49229800-49231000	Weak transcription	Small Intestine	intestine
28	chr13:49229800-49234600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr13:49229800-49239400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr13:49230000-49230400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr13:49230000-49230800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:49230000-49231200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr13:49230000-49232600	Weak transcription	Right Atrium	heart
34	chr13:49230000-49234200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr13:49230000-49234400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr13:49230000-49234400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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