Variant report

Variant	rs73456993
Chromosome Location	chr11:47885683-47885684
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	chr11:47858317..47861141-chr11:47883215..47886072,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56904157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56962998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57086723	1.00[EUR][1000 genomes]
rs57175250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58556689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055358	1.00[AMR][1000 genomes]
rs60354180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61144745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61638533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453047	1.00[AMR][1000 genomes]
rs73453068	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456963	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456971	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456978	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73465695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73465700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:47880000-47886600	Weak transcription	HSMMtube	muscle
3	chr11:47880000-47891000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:47880200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:47883000-47886000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr11:47883000-47886000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:47883000-47886200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:47883000-47886400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:47883000-47886600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:47883000-47887200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr11:47883200-47885800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr11:47883200-47885800	Enhancers	Dnd41	blood
13	chr11:47883200-47886000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:47883200-47886000	Enhancers	Fetal Thymus	thymus
15	chr11:47883200-47886600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:47883200-47887000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:47883400-47886200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:47883600-47886600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:47883800-47886600	Enhancers	Adipose Nuclei	Adipose
20	chr11:47884000-47886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:47884000-47887400	Enhancers	Hela-S3	cervix
22	chr11:47884200-47886600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:47884400-47886600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:47884400-47886600	Enhancers	HSMM	muscle
25	chr11:47884600-47885800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr11:47884600-47886200	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:47884600-47886800	Enhancers	NH-A	brain
28	chr11:47884800-47886000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:47884800-47886000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:47884800-47886800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:47885000-47886000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:47885200-47886200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr11:47885200-47886200	Weak transcription	HUVEC	blood vessel
34	chr11:47885200-47886400	Flanking Active TSS	NHDF-Ad	bronchial
35	chr11:47885200-47886600	Enhancers	NHLF	lung
36	chr11:47885200-47887000	Enhancers	Osteobl	bone
37	chr11:47885400-47885800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:47885400-47885800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:47885400-47886000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:47885400-47886000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr11:47885400-47886000	Enhancers	Placenta	Placenta
42	chr11:47885400-47886000	Enhancers	Small Intestine	intestine
43	chr11:47885400-47886000	Enhancers	Spleen	Spleen
44	chr11:47885400-47886200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:47885400-47886400	Enhancers	Primary T cells from cord blood	blood
46	chr11:47885400-47887000	Flanking Active TSS	GM12878-XiMat	blood
47	chr11:47885400-47887000	Enhancers	K562	blood
48	chr11:47885600-47885800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:47885600-47885800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr11:47885600-47886000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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