Variant report

Variant	rs7945233
Chromosome Location	chr11:47891255-47891256
allele	A/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	chr11:47875918..47878911-chr11:47889352..47891666,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10742819	0.89[AFR][1000 genomes]
rs10769293	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs10769301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10838756	0.89[AFR][1000 genomes]
rs10838781	0.91[AFR][1000 genomes]
rs10838785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039437	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1459988	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2869542	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4500446	0.98[AFR][1000 genomes]
rs4519055	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4752863	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4752868	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4752876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6485790	0.91[AFR][1000 genomes]
rs6485791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7107116	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7112381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125276	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128206	0.82[AFR][1000 genomes]
rs7130715	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7936734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7945302	1.00[AFR][1000 genomes];1.00[AMR][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47886000-47891600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:47887000-47891400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:47887000-47892000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:47890400-47892000	Enhancers	NHDF-Ad	bronchial
5	chr11:47890800-47891400	Enhancers	Stomach Mucosa	stomach
6	chr11:47890800-47892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:47890800-47892000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:47891000-47891400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:47891000-47891400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:47891000-47891800	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:47891000-47891800	Enhancers	NH-A	brain
12	chr11:47891000-47891800	Enhancers	Osteobl	bone
13	chr11:47891000-47892000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:47891000-47892000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:47891000-47892000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:47891000-47892000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:47891000-47892000	Flanking Active TSS	Hela-S3	cervix
18	chr11:47891000-47892000	Enhancers	HUVEC	blood vessel
19	chr11:47891000-47892200	Enhancers	HSMM	muscle
20	chr11:47891000-47892400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:47891200-47891400	Enhancers	Spleen	Spleen
22	chr11:47891200-47891600	Enhancers	NHLF	lung
23	chr11:47891200-47891800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:47891200-47891800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:47891200-47891800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:47891200-47891800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:47891200-47891800	Flanking Active TSS	A549	lung
28	chr11:47891200-47892000	Enhancers	HSMMtube	muscle
29	chr11:47891200-47892600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:47891200-47892800	Enhancers	Primary B cells from cord blood	blood

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