Variant report

Variant	rs531276662
Chromosome Location	chr11:47875471-47875472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47868432..47872224-chr11:47874279..47876068,4	MCF-7	breast:
2	chr11:47869337..47872493-chr11:47872959..47875710,4	MCF-7	breast:
3	chr11:47631158..47632846-chr11:47873541..47876421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000030066	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	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	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	esv3469474	chr11:47875148-47877156	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3469485	chr11:47875263-47877049	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47870600-47877400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:47870600-47879600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:47870600-47885400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:47870800-47877600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:47870800-47877800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:47870800-47877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:47870800-47879200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:47870800-47879800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:47870800-47889400	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:47871000-47877600	Weak transcription	K562	blood
11	chr11:47871000-47883200	Weak transcription	NHDF-Ad	bronchial
12	chr11:47871200-47877800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:47872200-47877600	Enhancers	Primary B cells from cord blood	blood
14	chr11:47872200-47884000	Weak transcription	Thymus	Thymus
15	chr11:47872400-47879400	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:47872800-47879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:47872800-47881200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr11:47873000-47883400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:47873000-47884600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:47873200-47876000	Enhancers	A549	lung
21	chr11:47873200-47877600	Enhancers	Hela-S3	cervix
22	chr11:47873200-47879600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr11:47873200-47880600	Weak transcription	Primary T cells from cord blood	blood
24	chr11:47873400-47883200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:47873600-47879200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:47874800-47875600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:47875200-47875600	Flanking Active TSS	Placenta	Placenta
28	chr11:47875200-47875600	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr11:47875200-47875800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:47875200-47875800	Enhancers	Colonic Mucosa	Colon
31	chr11:47875200-47876600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:47875200-47878800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:47875200-47880600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:47875400-47876000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr11:47875400-47879000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:47875400-47879000	Enhancers	GM12878-XiMat	blood
37	chr11:47875400-47879200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:47875400-47881200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:47875400-47884600	Weak transcription	Duodenum Mucosa	Duodenum

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