Variant report

Variant	rs73489023
Chromosome Location	chr13:49136887-49136888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73486897	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489011	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489012	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489016	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489021	0.92[AFR][1000 genomes];1.00[AMR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49134200-49137400	Enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr13:49134400-49137600	Enhancers	Primary T cells fromperipheralblood	blood
3	chr13:49134600-49138000	Weak transcription	Osteobl	bone
4	chr13:49134800-49137800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr13:49135000-49137200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr13:49135000-49137200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr13:49135000-49137800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr13:49135000-49138600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr13:49135000-49140000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:49135200-49137200	Flanking Active TSS	GM12878-XiMat	blood
12	chr13:49135200-49141800	Weak transcription	Placenta	Placenta
13	chr13:49135400-49137200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:49135600-49137000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:49135600-49137200	Enhancers	Duodenum Mucosa	Duodenum
16	chr13:49135600-49137200	Enhancers	K562	blood
17	chr13:49135800-49137200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr13:49136200-49137000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr13:49136200-49137000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:49136200-49137000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:49136200-49137000	Enhancers	HMEC	breast
22	chr13:49136200-49137200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr13:49136200-49137200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr13:49136200-49137200	Enhancers	HSMM	muscle
25	chr13:49136400-49137000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr13:49136400-49137000	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr13:49136400-49137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:49136400-49137200	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr13:49136400-49138000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:49136600-49137000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:49136600-49137400	Enhancers	Fetal Thymus	thymus
32	chr13:49136600-49137600	Enhancers	Primary hematopoietic stem cells	blood
33	chr13:49136600-49138800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr13:49136800-49137200	Flanking Active TSS	Dnd41	blood
35	chr13:49136800-49137400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
36	chr13:49136800-49137600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr13:49136800-49138600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr13:49136800-49141200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr13:49136800-49141400	Weak transcription	HepG2	liver
40	chr13:49136800-49142000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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