Variant report

Variant	esv3450839
Chromosome Location	chr5:112666347-112666927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112665963..112666847-chr5:112846245..112846895,2	MCF-7	breast:
2	chr5:112426149..112427047-chr5:112665549..112666859,5	MCF-7	breast:
3	chr5:112541156..112542138-chr5:112665995..112666868,4	MCF-7	breast:
4	chr5:112331438..112332505-chr5:112665779..112666817,4	MCF-7	breast:
5	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542386692	chr5:112666361-112666362	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs140696093	chr5:112666452-112666453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576148550	chr5:112666466-112666467	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371174185	chr5:112666515-112666516	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543404120	chr5:112666570-112666571	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs150126117	chr5:112666611-112666612	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532280479	chr5:112666647-112666648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs138430437	chr5:112666689-112666690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs114763510	chr5:112666730-112666731	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs149306160	chr5:112666731-112666732	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549111700	chr5:112666750-112666751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567410829	chr5:112666768-112666769	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537856789	chr5:112666772-112666773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549716530	chr5:112666839-112666840	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571929700	chr5:112666857-112666858	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs570602488	chr5:112666877-112666878	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs187810104	chr5:112666921-112666922	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112648800-112666600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
3	chr5:112656600-112666600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:112657400-112669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:112658000-112666600	Weak transcription	Left Ventricle	heart
6	chr5:112665200-112666400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:112665400-112667200	Flanking Active TSS	Liver	Liver
8	chr5:112665400-112667200	Enhancers	Dnd41	blood
9	chr5:112665600-112667200	Enhancers	Fetal Brain Female	brain
10	chr5:112665800-112666400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:112665800-112666400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:112665800-112666400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:112665800-112666400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:112665800-112666400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:112665800-112666800	Enhancers	Primary T cells from cord blood	blood
16	chr5:112665800-112667000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr5:112665800-112667000	Enhancers	Fetal Heart	heart
18	chr5:112666000-112666400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:112666000-112666400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:112666000-112666600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:112666000-112666600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:112666000-112666600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr5:112666000-112666600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:112666000-112666600	Enhancers	HSMM	muscle
25	chr5:112666000-112666800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr5:112666000-112666800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr5:112666000-112667000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:112666000-112667000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:112666000-112667200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr5:112666000-112667200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr5:112666000-112667200	Enhancers	HUVEC	blood vessel
32	chr5:112666200-112666400	Enhancers	Rectal Smooth Muscle	rectum
33	chr5:112666200-112666400	Enhancers	HSMMtube	muscle
34	chr5:112666200-112666600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr5:112666200-112666600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:112666200-112666600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:112666200-112666800	Enhancers	Fetal Brain Male	brain
38	chr5:112666200-112667000	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr5:112666200-112667000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:112666200-112667000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr5:112666200-112667000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr5:112666200-112667000	Enhancers	Brain Germinal Matrix	brain
43	chr5:112666200-112667000	Enhancers	Fetal Muscle Leg	muscle
44	chr5:112666200-112667000	Enhancers	Stomach Smooth Muscle	stomach
45	chr5:112666200-112667000	Enhancers	Hela-S3	cervix
46	chr5:112666200-112667200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:112666200-112667200	Enhancers	Primary hematopoietic stem cells	blood
48	chr5:112666200-112667200	Enhancers	Adipose Nuclei	Adipose
49	chr5:112666200-112667200	Enhancers	HMEC	breast
50	chr5:112666200-112667200	Enhancers	NH-A	brain

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