Variant report

Variant	rs6485790
Chromosome Location	chr11:47889032-47889033
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10742819	0.81[AFR][1000 genomes]
rs10769293	0.81[AFR][1000 genomes]
rs10769301	0.91[AFR][1000 genomes]
rs10838756	0.81[AFR][1000 genomes]
rs10838781	0.83[AFR][1000 genomes]
rs10838785	0.91[AFR][1000 genomes]
rs11039437	0.89[AFR][1000 genomes]
rs1459988	0.82[AFR][1000 genomes]
rs2869542	0.90[AFR][1000 genomes]
rs4500446	0.89[AFR][1000 genomes]
rs4519055	0.88[AFR][1000 genomes]
rs4752868	0.83[AFR][1000 genomes]
rs4752874	0.91[AFR][1000 genomes]
rs4752876	0.91[AFR][1000 genomes]
rs6485791	0.91[AFR][1000 genomes]
rs7107116	0.83[AFR][1000 genomes]
rs7112381	0.89[AFR][1000 genomes]
rs7125276	0.90[AFR][1000 genomes]
rs7130715	0.83[AFR][1000 genomes]
rs7936734	0.83[AFR][1000 genomes]
rs7945233	0.91[AFR][1000 genomes]
rs7945302	0.91[AFR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:47880000-47891000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:47880200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:47886000-47891200	Weak transcription	Spleen	Spleen
5	chr11:47886000-47891600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr11:47886200-47891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:47886200-47891200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:47886400-47889200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:47886800-47890800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:47886800-47891000	Weak transcription	NH-A	brain
11	chr11:47887000-47889200	Enhancers	Primary B cells from cord blood	blood
12	chr11:47887000-47891000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:47887000-47891000	Weak transcription	HUVEC	blood vessel
14	chr11:47887000-47891000	Weak transcription	Osteobl	bone
15	chr11:47887000-47891200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:47887000-47891200	Weak transcription	HSMMtube	muscle
17	chr11:47887000-47891200	Weak transcription	NHLF	lung
18	chr11:47887000-47891400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:47887000-47892000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:47887200-47891000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:47887200-47891000	Weak transcription	HSMM	muscle
22	chr11:47887400-47889200	Weak transcription	Hela-S3	cervix
23	chr11:47887600-47889400	Weak transcription	A549	lung
24	chr11:47888600-47891000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr11:47888800-47889200	Weak transcription	NHDF-Ad	bronchial

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