Variant report

Variant	rs11029983
Chromosome Location	chr11:3851750-3851751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:3849679..3852427-chr11:3857785..3859951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177105	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1049388	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11030043	1.00[ASN][1000 genomes]
rs11030044	1.00[ASN][1000 genomes]
rs11030055	1.00[ASN][1000 genomes]
rs11030173	1.00[ASN][1000 genomes]
rs11600857	1.00[ASN][1000 genomes]
rs11606318	1.00[ASN][1000 genomes]
rs11606483	1.00[ASN][1000 genomes]
rs17173882	1.00[ASN][1000 genomes]
rs17191448	1.00[ASN][1000 genomes]
rs17276405	1.00[ASN][1000 genomes]
rs17276453	1.00[ASN][1000 genomes]
rs4910577	1.00[ASN][1000 genomes]
rs4910846	1.00[ASN][1000 genomes]
rs4910852	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910856	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910857	1.00[ASN][1000 genomes]
rs61896929	1.00[ASN][1000 genomes]
rs61896930	1.00[ASN][1000 genomes]
rs61896931	1.00[ASN][1000 genomes]
rs61896953	1.00[ASN][1000 genomes]
rs61896954	1.00[ASN][1000 genomes]
rs61896956	1.00[ASN][1000 genomes]
rs61896957	1.00[ASN][1000 genomes]
rs61896958	1.00[ASN][1000 genomes]
rs61896959	1.00[ASN][1000 genomes]
rs61899361	1.00[ASN][1000 genomes]
rs61899362	1.00[ASN][1000 genomes]
rs61899363	1.00[ASN][1000 genomes]
rs61899392	1.00[ASN][1000 genomes]
rs61899393	1.00[ASN][1000 genomes]
rs6578414	1.00[ASN][1000 genomes]
rs7101788	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72844340	1.00[ASN][1000 genomes]
rs72844341	1.00[ASN][1000 genomes]
rs73430467	1.00[ASN][1000 genomes]
rs74050940	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
9	nsv1044882	chr11:3828986-3860024	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1044360	chr11:3832288-3860024	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830200-3852400	Weak transcription	Fetal Brain Male	brain
2	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
3	chr11:3832600-3853000	Weak transcription	Psoas Muscle	Psoas
4	chr11:3842000-3853600	Strong transcription	Fetal Intestine Small	intestine
5	chr11:3844000-3857000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:3844400-3856200	Strong transcription	Fetal Stomach	stomach
7	chr11:3844600-3852800	Strong transcription	Fetal Intestine Large	intestine
8	chr11:3844600-3853400	Strong transcription	Thymus	Thymus
9	chr11:3844800-3854800	Strong transcription	Dnd41	blood
10	chr11:3844800-3857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:3845000-3856000	Weak transcription	HUVEC	blood vessel
12	chr11:3845200-3852200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:3845200-3855800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:3845400-3854200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:3845400-3855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:3845400-3855800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:3845600-3851800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:3845600-3855800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:3846000-3851800	Strong transcription	Fetal Lung	lung
20	chr11:3846000-3853800	Strong transcription	A549	lung
21	chr11:3846200-3851800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:3846200-3852000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:3846200-3852000	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr11:3846200-3852000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:3846200-3852800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:3846400-3851800	Genic enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:3846400-3852000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:3846400-3852000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:3846400-3855000	Strong transcription	NHEK	skin
30	chr11:3846600-3852000	Strong transcription	Adipose Nuclei	Adipose
31	chr11:3846600-3852600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr11:3846600-3852800	Genic enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:3846800-3852000	Weak transcription	Right Atrium	heart
34	chr11:3846800-3852400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr11:3846800-3852400	Strong transcription	Fetal Thymus	thymus
36	chr11:3847000-3851800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:3847000-3851800	Strong transcription	Placenta	Placenta
38	chr11:3847000-3852000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr11:3847200-3852000	Strong transcription	GM12878-XiMat	blood
40	chr11:3847200-3852800	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:3847400-3852000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:3847600-3852000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:3848400-3853200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:3848600-3853200	Weak transcription	Stomach Mucosa	stomach
46	chr11:3848600-3858200	Weak transcription	NHDF-Ad	bronchial
47	chr11:3848800-3852400	Strong transcription	Gastric	stomach
48	chr11:3848800-3855400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr11:3849200-3853600	Weak transcription	HepG2	liver
50	chr11:3849200-3855400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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