Variant report

Variant	rs6485789
Chromosome Location	chr11:47884847-47884848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47882484..47885060-chr11:47964831..47967242,2	K562	blood:
2	chr11:47858317..47861141-chr11:47883215..47886072,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16938631	0.84[ASW][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17791016	0.84[ASW][hapmap];0.86[LWK][hapmap];0.90[MKK][hapmap]
rs1872167	0.89[AFR][1000 genomes]
rs2305982	0.84[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs4752791	0.84[ASW][hapmap];0.96[LWK][hapmap];0.90[MKK][hapmap]
rs4752871	0.92[AFR][1000 genomes]
rs4752877	0.89[AFR][1000 genomes]
rs6485783	0.84[ASW][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs7120737	0.84[ASW][hapmap];0.82[LWK][hapmap];0.90[MKK][hapmap]
rs7124209	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124949	0.82[AFR][1000 genomes]
rs73464873	0.87[EUR][1000 genomes]
rs7927611	0.82[AFR][1000 genomes]
rs7939069	0.84[ASW][hapmap];0.85[LWK][hapmap];0.98[MKK][hapmap]
rs7952204	0.82[YRI][hapmap]

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:60 , 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	chr11:47880000-47886600	Weak transcription	HSMMtube	muscle
4	chr11:47880000-47891000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:47880200-47885400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:47880200-47885400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:47880200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:47880600-47885000	Enhancers	Placenta	Placenta
9	chr11:47883000-47885000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:47883000-47886000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:47883000-47886000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:47883000-47886200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:47883000-47886400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:47883000-47886600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:47883000-47887200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:47883200-47885000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:47883200-47885200	Enhancers	NHDF-Ad	bronchial
18	chr11:47883200-47885800	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr11:47883200-47885800	Enhancers	Dnd41	blood
20	chr11:47883200-47886000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:47883200-47886000	Enhancers	Fetal Thymus	thymus
22	chr11:47883200-47886600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:47883200-47887000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:47883400-47886200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:47883600-47886600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:47883800-47886600	Enhancers	Adipose Nuclei	Adipose
27	chr11:47884000-47885000	Enhancers	Thymus	Thymus
28	chr11:47884000-47886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:47884000-47887400	Enhancers	Hela-S3	cervix
30	chr11:47884200-47885400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr11:47884200-47886600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:47884400-47885000	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:47884400-47885200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr11:47884400-47885600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr11:47884400-47885600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:47884400-47886600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:47884400-47886600	Enhancers	HSMM	muscle
38	chr11:47884600-47885000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr11:47884600-47885000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:47884600-47885200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:47884600-47885400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:47884600-47885600	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:47884600-47885600	Flanking Active TSS	A549	lung
44	chr11:47884600-47885800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:47884600-47886200	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:47884600-47886800	Enhancers	NH-A	brain
47	chr11:47884800-47885000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:47884800-47885000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr11:47884800-47885000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:47884800-47885200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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