Variant report

Variant	rs187946486
Chromosome Location	chr11:73054263-73054264
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73051769..73054322-chr11:73072717..73075301,2	MCF-7	breast:
2	chr11:73052756..73055685-chr11:73086112..73090323,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction
ENSG00000110237	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv897911	chr11:73044351-73108276	Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3341893	chr11:73052929-73055477	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73046600-73058600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:73046600-73058800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:73046600-73061600	Weak transcription	Primary B cells from cord blood	blood
4	chr11:73046600-73075400	Weak transcription	A549	lung
5	chr11:73047000-73054600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:73047400-73058400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:73049000-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:73049400-73054600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:73051400-73055400	Weak transcription	HMEC	breast
10	chr11:73052400-73058000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:73052600-73056000	Enhancers	Fetal Heart	heart
12	chr11:73052800-73054800	Enhancers	Liver	Liver
13	chr11:73052800-73056200	Enhancers	Lung	lung
14	chr11:73053000-73055000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:73053200-73056200	Enhancers	NHDF-Ad	bronchial
16	chr11:73053200-73056800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr11:73053400-73054400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr11:73053400-73054400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:73053400-73054400	Enhancers	Fetal Brain Male	brain
20	chr11:73053400-73054600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:73053400-73055000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:73053400-73055000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:73053400-73055000	Enhancers	Esophagus	oesophagus
24	chr11:73053400-73055800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:73053400-73055800	Enhancers	Brain Substantia Nigra	brain
26	chr11:73053400-73055800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr11:73053400-73057200	Enhancers	Spleen	Spleen
28	chr11:73053600-73054400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr11:73053600-73054400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:73053600-73054400	Active TSS	Aorta	Aorta
31	chr11:73053600-73054400	Active TSS	Colon Smooth Muscle	Colon
32	chr11:73053600-73054400	Flanking Active TSS	Left Ventricle	heart
33	chr11:73053600-73054400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr11:73053600-73054600	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:73053600-73054600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:73053600-73054600	Active TSS	Fetal Brain Female	brain
37	chr11:73053600-73054600	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:73053600-73055800	Enhancers	NH-A	brain
39	chr11:73053600-73056200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:73053800-73054400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:73053800-73054400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:73053800-73054400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:73053800-73054400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr11:73053800-73054400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:73053800-73054400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:73053800-73054400	Active TSS	Brain Anterior Caudate	brain
47	chr11:73053800-73054400	Active TSS	Brain Cingulate Gyrus	brain
48	chr11:73053800-73054400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:73053800-73054400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:73053800-73054400	Active TSS	Rectal Smooth Muscle	rectum

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