Variant report

Variant	rs55816660
Chromosome Location	chr13:49012141-49012142
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	chr13:49002533..49005304-chr13:49011624..49014276,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs4151562	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151582	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55926808	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56948396	1.00[AMR][1000 genomes]
rs60410511	1.00[AMR][1000 genomes]
rs61257669	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330657	1.00[AMR][1000 genomes]
rs7337289	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074903	1.00[AMR][1000 genomes]
rs74074908	1.00[AMR][1000 genomes]
rs74075912	0.85[AFR][1000 genomes]
rs74075996	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077637	1.00[AMR][1000 genomes]
rs74077639	1.00[AMR][1000 genomes]
rs74077645	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077646	1.00[AMR][1000 genomes]
rs7999469	1.00[AMR][1000 genomes]
rs9331982	1.00[AMR][1000 genomes]
rs9331989	1.00[AMR][1000 genomes]
rs9332011	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48990800-49030800	Weak transcription	Ovary	ovary
2	chr13:48991400-49013200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr13:48991400-49018600	Weak transcription	Thymus	Thymus
4	chr13:48991400-49019200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:48991400-49030600	Weak transcription	Spleen	Spleen
6	chr13:48991800-49018800	Weak transcription	Fetal Thymus	thymus
7	chr13:48994800-49018000	Weak transcription	Primary B cells from cord blood	blood
8	chr13:48999000-49024400	Weak transcription	Fetal Muscle Leg	muscle
9	chr13:49001400-49022400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:49001400-49024600	Weak transcription	Fetal Intestine Small	intestine
11	chr13:49003000-49012600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:49003600-49023200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr13:49006000-49018000	Weak transcription	Dnd41	blood
14	chr13:49006400-49018800	Weak transcription	GM12878-XiMat	blood
15	chr13:49006800-49020200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr13:49006800-49020400	Weak transcription	HSMMtube	muscle
17	chr13:49006800-49020800	Weak transcription	Hela-S3	cervix
18	chr13:49006800-49030400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr13:49007000-49027600	Weak transcription	Primary T cells from cord blood	blood
20	chr13:49008000-49028600	Weak transcription	HepG2	liver
21	chr13:49008600-49012200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr13:49008600-49012200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr13:49008800-49030800	Weak transcription	Placenta	Placenta
24	chr13:49009000-49030600	Weak transcription	Gastric	stomach
25	chr13:49009000-49030600	Weak transcription	Lung	lung
26	chr13:49009400-49012800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr13:49010200-49012200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:49010200-49012800	Enhancers	Stomach Mucosa	stomach
29	chr13:49010400-49012200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr13:49010600-49012200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:49010800-49012200	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr13:49010800-49012200	Enhancers	Rectal Smooth Muscle	rectum
33	chr13:49010800-49012200	Enhancers	NHDF-Ad	bronchial
34	chr13:49010800-49012400	Enhancers	Fetal Heart	heart
35	chr13:49010800-49017800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr13:49010800-49017800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr13:49011000-49012200	Enhancers	Adipose Nuclei	Adipose
38	chr13:49011000-49012400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr13:49011200-49012600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr13:49011200-49028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr13:49011400-49012200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:49011400-49017800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr13:49011400-49022800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:49011800-49012200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr13:49011800-49012200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr13:49011800-49017200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr13:49011800-49020400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:49011800-49023600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:49012000-49012200	Enhancers	NHEK	skin
50	chr13:49012000-49016600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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