Variant report

Variant	rs7479058
Chromosome Location	chr11:3824099-3824100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10742170	0.83[ASN][1000 genomes]
rs10767612	0.89[ASN][1000 genomes]
rs10767619	0.83[ASN][1000 genomes]
rs10835147	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11602563	0.89[ASN][1000 genomes]
rs1530892	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1530893	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4910829	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7117291	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7946577	0.82[ASN][1000 genomes]
rs9733994	0.87[ASN][1000 genomes]
rs9737461	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	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 Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3818800-3829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:3819600-3825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:3819600-3828800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:3819600-3828800	Weak transcription	Fetal Kidney	kidney
5	chr11:3819600-3829000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:3819600-3829000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:3819600-3829000	Weak transcription	Stomach Mucosa	stomach
8	chr11:3819800-3825200	Weak transcription	HMEC	breast
9	chr11:3819800-3825200	Weak transcription	NHEK	skin
10	chr11:3819800-3828800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:3819800-3828800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:3819800-3828800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:3819800-3829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:3819800-3829000	Weak transcription	Brain Angular Gyrus	brain
15	chr11:3819800-3829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:3819800-3829000	Weak transcription	Thymus	Thymus
17	chr11:3820000-3825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:3820200-3829000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:3820200-3829000	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:3820400-3828800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr11:3820400-3828800	Weak transcription	Hela-S3	cervix
22	chr11:3820600-3828800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:3823000-3824200	Enhancers	Fetal Intestine Small	intestine
24	chr11:3823800-3825400	Weak transcription	NH-A	brain
25	chr11:3823800-3828600	Weak transcription	Dnd41	blood
26	chr11:3823800-3828800	Weak transcription	HepG2	liver
27	chr11:3823800-3829000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:3823800-3829000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:3823800-3829200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:3824000-3824200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:3824000-3825000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:3824000-3825200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:3824000-3825200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:3824000-3825200	Weak transcription	HSMM	muscle
35	chr11:3824000-3825200	Weak transcription	NHDF-Ad	bronchial
36	chr11:3824000-3825200	Weak transcription	Osteobl	bone
37	chr11:3824000-3825400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:3824000-3828800	Weak transcription	K562	blood
39	chr11:3824000-3829000	Weak transcription	Fetal Intestine Large	intestine
40	chr11:3824000-3829000	Weak transcription	Fetal Stomach	stomach
41	chr11:3824000-3829000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:3824000-3829000	Weak transcription	A549	lung
43	chr11:3824000-3829200	Weak transcription	HSMMtube	muscle

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