Variant report

Variant	rs11029830
Chromosome Location	chr11:3823068-3823069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:3822981-3823667	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3822073..3823932-chr11:3832905..3835438,2	MCF-7	breast:
2	chr11:3820748..3823503-chr11:3874625..3876913,2	K562	blood:

Variant related genes	Relation type
NUP98	TF binding region
ENSG00000167323	Chromatin interaction
ENSG00000228661	Chromatin interaction
ENSG00000229368	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1037382	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1037383	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1037384	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10742170	0.81[EUR][1000 genomes]
rs10767605	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767606	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10767610	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10767612	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10835113	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10835117	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11029824	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11029828	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11029836	0.81[EUR][1000 genomes]
rs11602563	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12576671	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2412290	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898938	0.86[EUR][1000 genomes]
rs3781615	0.87[EUR][1000 genomes]
rs7946577	0.83[EUR][1000 genomes]
rs9733994	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9737461	0.82[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:44 , 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	chr11:3819600-3823400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:3819600-3823400	Weak transcription	NH-A	brain
4	chr11:3819600-3823600	Weak transcription	NHDF-Ad	bronchial
5	chr11:3819600-3825200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:3819600-3828800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:3819600-3828800	Weak transcription	Fetal Kidney	kidney
8	chr11:3819600-3829000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr11:3819600-3829000	Weak transcription	Primary T cells from cord blood	blood
10	chr11:3819600-3829000	Weak transcription	Stomach Mucosa	stomach
11	chr11:3819800-3823200	Weak transcription	A549	lung
12	chr11:3819800-3823200	Weak transcription	K562	blood
13	chr11:3819800-3823400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:3819800-3823400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:3819800-3823400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:3819800-3823400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:3819800-3823400	Weak transcription	HSMM	muscle
18	chr11:3819800-3823400	Weak transcription	HSMMtube	muscle
19	chr11:3819800-3823400	Weak transcription	Osteobl	bone
20	chr11:3819800-3823600	Weak transcription	Fetal Stomach	stomach
21	chr11:3819800-3825200	Weak transcription	HMEC	breast
22	chr11:3819800-3825200	Weak transcription	NHEK	skin
23	chr11:3819800-3828800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:3819800-3828800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:3819800-3828800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:3819800-3829000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:3819800-3829000	Weak transcription	Brain Angular Gyrus	brain
28	chr11:3819800-3829000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:3819800-3829000	Weak transcription	Thymus	Thymus
30	chr11:3820000-3823200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:3820000-3823200	Weak transcription	HepG2	liver
32	chr11:3820000-3825200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:3820200-3829000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:3820200-3829000	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:3820400-3828800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr11:3820400-3828800	Weak transcription	Hela-S3	cervix
37	chr11:3820600-3828800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr11:3820800-3823400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:3821200-3823600	Weak transcription	Dnd41	blood
40	chr11:3823000-3823600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:3823000-3824000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:3823000-3824000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:3823000-3824000	Enhancers	Fetal Intestine Large	intestine
44	chr11:3823000-3824200	Enhancers	Fetal Intestine Small	intestine

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