Variant report

Variant	rs2869542
Chromosome Location	chr11:47883074-47883075
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	chr11:47880257..47883214-chr11:47889467..47892420,2	K562	blood:
2	chr11:47882484..47885060-chr11:47964831..47967242,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10742819	0.88[AFR][1000 genomes]
rs10769293	0.88[AFR][1000 genomes]
rs10769301	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10838756	0.88[AFR][1000 genomes]
rs10838781	0.90[AFR][1000 genomes]
rs10838785	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039437	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1459988	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4500446	0.97[AFR][1000 genomes]
rs4519055	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4752863	0.85[AFR][1000 genomes]
rs4752868	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752874	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752876	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485790	0.90[AFR][1000 genomes]
rs6485791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7107116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7112381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125276	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128206	0.82[AFR][1000 genomes]
rs7130715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936734	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945233	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945302	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
4	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1049835	chr11:47837089-47928822	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv541036	chr11:47837089-47928822	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870600-47885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:47871000-47883200	Weak transcription	NHDF-Ad	bronchial
4	chr11:47872200-47884000	Weak transcription	Thymus	Thymus
5	chr11:47873000-47883400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:47873000-47884600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:47873400-47883200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr11:47875400-47884600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:47875800-47883400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:47878000-47884400	Enhancers	Primary B cells from cord blood	blood
11	chr11:47878200-47883200	Weak transcription	K562	blood
12	chr11:47879600-47883600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:47879800-47884400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:47879800-47884400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr11:47879800-47884600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:47880000-47883200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:47880000-47884800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:47880000-47884800	Weak transcription	Spleen	Spleen
19	chr11:47880000-47886600	Weak transcription	HSMMtube	muscle
20	chr11:47880000-47891000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:47880200-47883200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:47880200-47883200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:47880200-47883200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:47880200-47883200	Weak transcription	NH-A	brain
25	chr11:47880200-47883200	Weak transcription	Osteobl	bone
26	chr11:47880200-47883400	Enhancers	Hela-S3	cervix
27	chr11:47880200-47883400	Weak transcription	NHLF	lung
28	chr11:47880200-47884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:47880200-47884400	Weak transcription	HSMM	muscle
30	chr11:47880200-47884800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:47880200-47884800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:47880200-47884800	Weak transcription	HUVEC	blood vessel
33	chr11:47880200-47885400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:47880200-47885400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:47880200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:47880400-47884000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:47880600-47885000	Enhancers	Placenta	Placenta
38	chr11:47881600-47883200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:47881600-47883200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:47881800-47883200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:47881800-47883200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:47881800-47883200	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:47882000-47883200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:47882200-47883200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:47882800-47884800	Enhancers	Primary T cells from cord blood	blood
46	chr11:47883000-47884400	Enhancers	GM12878-XiMat	blood
47	chr11:47883000-47884600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:47883000-47884600	Enhancers	A549	lung
49	chr11:47883000-47885000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:47883000-47886000	Enhancers	Primary T cells fromperipheralblood	blood

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