Variant report

Variant	rs11229127
Chromosome Location	chr11:57557238-57557239
allele	C/T
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	POLR2A	chr11:57557166-57557271	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57555253..57557894-chr11:57565432..57567473,2	MCF-7	breast:

Variant related genes	Relation type
CTNND1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11229129	1.00[YRI][hapmap]
rs11229138	1.00[YRI][hapmap]
rs12269967	1.00[YRI][hapmap]
rs12277841	1.00[YRI][hapmap]
rs12284892	0.91[AFR][1000 genomes]
rs12289980	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers 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	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS 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	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57546400-57559000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:57546400-57559200	Enhancers	Stomach Mucosa	stomach
3	chr11:57546800-57564000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:57547000-57558600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:57547000-57558600	Enhancers	Liver	Liver
6	chr11:57547400-57558600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:57547400-57558800	Weak transcription	Aorta	Aorta
8	chr11:57547800-57558600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:57549400-57558400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:57549400-57559600	Weak transcription	Hela-S3	cervix
11	chr11:57550400-57559200	Weak transcription	Fetal Kidney	kidney
12	chr11:57550600-57558400	Weak transcription	K562	blood
13	chr11:57552000-57559400	Weak transcription	Brain Angular Gyrus	brain
14	chr11:57552200-57557600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr11:57552200-57560000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:57552400-57557600	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr11:57552800-57558800	Enhancers	Dnd41	blood
18	chr11:57553600-57557800	Enhancers	Adipose Nuclei	Adipose
19	chr11:57554000-57557800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:57554200-57557600	Enhancers	Colon Smooth Muscle	Colon
21	chr11:57554200-57558800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:57554400-57557400	Enhancers	Rectal Smooth Muscle	rectum
23	chr11:57554800-57561600	Enhancers	Small Intestine	intestine
24	chr11:57555000-57558600	Weak transcription	Osteobl	bone
25	chr11:57555200-57557600	Weak transcription	Fetal Stomach	stomach
26	chr11:57555200-57558600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr11:57555200-57558600	Weak transcription	Fetal Brain Female	brain
28	chr11:57555400-57558400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:57555400-57559000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:57555400-57563200	Weak transcription	Fetal Brain Male	brain
31	chr11:57555600-57558400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:57555600-57558600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:57555600-57558600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr11:57555600-57558600	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr11:57555600-57558800	Weak transcription	Brain Anterior Caudate	brain
36	chr11:57555600-57558800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:57555600-57558800	Weak transcription	Brain Substantia Nigra	brain
38	chr11:57555600-57558800	Weak transcription	NHLF	lung
39	chr11:57555600-57562800	Weak transcription	Ovary	ovary
40	chr11:57556000-57558400	Enhancers	HMEC	breast
41	chr11:57556000-57558600	Enhancers	Duodenum Mucosa	Duodenum
42	chr11:57556000-57558600	Weak transcription	Esophagus	oesophagus
43	chr11:57556000-57562400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:57556000-57562400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:57556000-57567800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr11:57556200-57557600	Weak transcription	Gastric	stomach
47	chr11:57556200-57557800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:57556200-57558200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:57556200-57558400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:57556200-57558400	Weak transcription	Primary T cells from cord blood	blood

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