Variant report

Variant	rs11883099
Chromosome Location	chr19:42691495-42691496
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	chr19:42689537..42691602-chr19:42692357..42693858,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11878811	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882103	1.00[EUR][1000 genomes]
rs11882606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883406	1.00[AMR][1000 genomes]
rs35260629	1.00[AMR][1000 genomes]
rs36024215	1.00[AMR][1000 genomes]
rs45618138	1.00[AMR][1000 genomes]
rs61739430	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv275463	chr19:42688997-42700516	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42681800-42703600	Weak transcription	Right Atrium	heart
2	chr19:42689000-42695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:42689000-42700400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr19:42689200-42697400	Weak transcription	HSMMtube	muscle
5	chr19:42689800-42693200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr19:42689800-42693400	Weak transcription	Osteobl	bone
7	chr19:42689800-42695200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr19:42689800-42695200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:42689800-42695200	Weak transcription	Stomach Mucosa	stomach
10	chr19:42689800-42695400	Weak transcription	NHEK	skin
11	chr19:42689800-42695600	Weak transcription	Placenta	Placenta
12	chr19:42689800-42695800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:42689800-42702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:42690000-42693200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr19:42690000-42694600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:42690000-42695200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:42690000-42695200	Weak transcription	Colonic Mucosa	Colon
19	chr19:42690000-42695400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:42690000-42697400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr19:42690000-42700200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr19:42690200-42693000	Weak transcription	Primary T cells from cord blood	blood
23	chr19:42690200-42693200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:42690200-42693200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:42690200-42693200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:42690200-42693200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:42690200-42695200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr19:42690200-42695200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:42690200-42695200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr19:42690200-42696000	Weak transcription	Spleen	Spleen
31	chr19:42690200-42700200	Weak transcription	Primary B cells from cord blood	blood
32	chr19:42690200-42700400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr19:42690200-42701200	Weak transcription	Dnd41	blood
34	chr19:42690400-42693000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:42690600-42693400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr19:42690800-42693000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr19:42690800-42693000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:42690800-42693200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:42690800-42695200	Weak transcription	Fetal Thymus	thymus
40	chr19:42690800-42695400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:42690800-42695600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:42691000-42692800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:42691000-42693000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr19:42691000-42693000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:42691000-42693200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:42691200-42695600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr19:42691400-42695400	Weak transcription	Monocytes-CD14+_RO01746	blood

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