Variant report

Variant	rs60646582
Chromosome Location	chr13:49135261-49135262
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10162207	1.00[EUR][1000 genomes]
rs55946851	0.87[AFR][1000 genomes]
rs57910291	0.93[AFR][1000 genomes]
rs58017161	0.87[AFR][1000 genomes]
rs60410511	0.87[AFR][1000 genomes]
rs60546811	1.00[EUR][1000 genomes]
rs7319849	0.80[AFR][1000 genomes]
rs7330657	0.80[AFR][1000 genomes]
rs7337391	1.00[AFR][1000 genomes]
rs73490879	1.00[EUR][1000 genomes]
rs73495127	1.00[EUR][1000 genomes]
rs74074903	0.87[AFR][1000 genomes]
rs74074908	0.87[AFR][1000 genomes]
rs74074949	0.88[AFR][1000 genomes]
rs74074955	0.97[AFR][1000 genomes]
rs9316400	1.00[EUR][1000 genomes]
rs9331982	0.80[AFR][1000 genomes]
rs9331989	0.87[AFR][1000 genomes]
rs9591164	1.00[EUR][1000 genomes]
rs9591168	1.00[EUR][1000 genomes]
rs9591179	1.00[EUR][1000 genomes]
rs9591181	1.00[EUR][1000 genomes]
rs9595892	1.00[EUR][1000 genomes]
rs9595906	1.00[EUR][1000 genomes]
rs9595915	1.00[EUR][1000 genomes]
rs9595921	1.00[EUR][1000 genomes]
rs9595922	1.00[EUR][1000 genomes]
rs9595923	1.00[EUR][1000 genomes]
rs9595925	1.00[EUR][1000 genomes]
rs9805455	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
2	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
3	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
4	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
5	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
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49133400-49135600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:49133600-49136000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:49133800-49135800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr13:49134000-49135600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:49134200-49136200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr13:49134200-49136200	Weak transcription	HSMM	muscle
7	chr13:49134200-49137400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr13:49134400-49135600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr13:49134400-49136200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr13:49134400-49136200	Weak transcription	HMEC	breast
11	chr13:49134400-49137600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr13:49134600-49135600	Weak transcription	K562	blood
13	chr13:49134600-49136400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:49134600-49138000	Weak transcription	Osteobl	bone
15	chr13:49134800-49137800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:49135000-49135800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr13:49135000-49135800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr13:49135000-49135800	Enhancers	Fetal Thymus	thymus
19	chr13:49135000-49136000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr13:49135000-49136200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr13:49135000-49136200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr13:49135000-49136400	Flanking Active TSS	Dnd41	blood
23	chr13:49135000-49136800	Enhancers	HepG2	liver
24	chr13:49135000-49137200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr13:49135000-49137200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr13:49135000-49137800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr13:49135000-49138600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr13:49135000-49140000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr13:49135200-49135400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr13:49135200-49135600	Bivalent Enhancer	Primary T cells from cord blood	blood
32	chr13:49135200-49136000	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr13:49135200-49137200	Flanking Active TSS	GM12878-XiMat	blood
34	chr13:49135200-49141800	Weak transcription	Placenta	Placenta

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