Variant report

Variant	rs73489019
Chromosome Location	chr13:49136321-49136322
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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73489023	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:39 , 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	chr13:49134600-49136400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:49134600-49138000	Weak transcription	Osteobl	bone
5	chr13:49134800-49137800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:49135000-49136400	Flanking Active TSS	Dnd41	blood
7	chr13:49135000-49136800	Enhancers	HepG2	liver
8	chr13:49135000-49137200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr13:49135000-49137200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr13:49135000-49137800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr13:49135000-49138600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr13:49135000-49140000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr13:49135200-49137200	Flanking Active TSS	GM12878-XiMat	blood
15	chr13:49135200-49141800	Weak transcription	Placenta	Placenta
16	chr13:49135400-49136400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr13:49135400-49136800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:49135400-49137200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:49135600-49137000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:49135600-49137200	Enhancers	Duodenum Mucosa	Duodenum
21	chr13:49135600-49137200	Enhancers	K562	blood
22	chr13:49135800-49136400	Enhancers	Primary T cells from cord blood	blood
23	chr13:49135800-49136600	Weak transcription	Fetal Thymus	thymus
24	chr13:49135800-49136800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr13:49135800-49137200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr13:49136000-49136400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
27	chr13:49136000-49136600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr13:49136000-49136800	Enhancers	Primary B cells from peripheral blood	blood
29	chr13:49136200-49136400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr13:49136200-49136400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:49136200-49136600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr13:49136200-49136600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr13:49136200-49137000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr13:49136200-49137000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:49136200-49137000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr13:49136200-49137000	Enhancers	HMEC	breast
37	chr13:49136200-49137200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr13:49136200-49137200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr13:49136200-49137200	Enhancers	HSMM	muscle

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