Variant report

Variant	esv3469722
Chromosome Location	chr5:112666822-112672321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112570824..112573255-chr5:112670003..112671538,2	MCF-7	breast:
2	chr5:112670295..112671013-chr5:112846037..112846592,2	MCF-7	breast:
3	chr5:112665963..112666847-chr5:112846245..112846895,2	MCF-7	breast:
4	chr5:112378846..112379838-chr5:112666004..112666840,2	MCF-7	breast:
5	chr5:112541156..112542138-chr5:112665995..112666868,4	MCF-7	breast:
6	chr5:112426149..112427047-chr5:112665549..112666859,5	MCF-7	breast:
7	chr5:112670061..112672629-chr5:112676189..112678751,2	K562	blood:

Extended variants
information (count: 234 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549716530	chr5:112666839-112666840	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571929700	chr5:112666857-112666858	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570602488	chr5:112666877-112666878	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187810104	chr5:112666921-112666922	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs554425579	chr5:112666943-112666944	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572598141	chr5:112667048-112667049	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536845258	chr5:112667106-112667107	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147408255	chr5:112667120-112667121	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs138070642	chr5:112667123-112667124	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs539649402	chr5:112667130-112667131	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs192742641	chr5:112667131-112667132	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182449681	chr5:112667178-112667179	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542460904	chr5:112667181-112667182	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34086366	chr5:112667201-112667202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576754521	chr5:112667255-112667256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561197481	chr5:112667288-112667289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573093109	chr5:112667311-112667312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200133972	chr5:112667312-112667313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs202151477	chr5:112667315-112667316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200559476	chr5:112667316-112667317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542450673	chr5:112667335-112667336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546518825	chr5:112667365-112667366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187873869	chr5:112667379-112667380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376299901	chr5:112667381-112667382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143741937	chr5:112667436-112667437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529886618	chr5:112667458-112667459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541582517	chr5:112667459-112667460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192441109	chr5:112667468-112667469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201667244	chr5:112667486-112667487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35279934	chr5:112667491-112667492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397773541	chr5:112667492-112667493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535330588	chr5:112667495-112667496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11741860	chr5:112667548-112667549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147217076	chr5:112667607-112667608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571581349	chr5:112667627-112667628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184487764	chr5:112667628-112667629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148520746	chr5:112667728-112667729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188935885	chr5:112667763-112667764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555175418	chr5:112667778-112667779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142775245	chr5:112667787-112667788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114099904	chr5:112667804-112667805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537192980	chr5:112667852-112667853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192810872	chr5:112667885-112667886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562384994	chr5:112667920-112667921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558997290	chr5:112667961-112667962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576808949	chr5:112667973-112667974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541010860	chr5:112668006-112668007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553000936	chr5:112668010-112668011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574626864	chr5:112668049-112668050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7732247	chr5:112668144-112668145	Weak transcription	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:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
2	chr5:112657400-112669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:112665400-112667200	Flanking Active TSS	Liver	Liver
4	chr5:112665400-112667200	Enhancers	Dnd41	blood
5	chr5:112665600-112667200	Enhancers	Fetal Brain Female	brain
6	chr5:112665800-112667000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:112665800-112667000	Enhancers	Fetal Heart	heart
8	chr5:112666000-112667000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:112666000-112667000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:112666000-112667200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:112666000-112667200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:112666000-112667200	Enhancers	HUVEC	blood vessel
13	chr5:112666200-112667000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:112666200-112667000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:112666200-112667000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr5:112666200-112667000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:112666200-112667000	Enhancers	Brain Germinal Matrix	brain
18	chr5:112666200-112667000	Enhancers	Fetal Muscle Leg	muscle
19	chr5:112666200-112667000	Enhancers	Stomach Smooth Muscle	stomach
20	chr5:112666200-112667000	Enhancers	Hela-S3	cervix
21	chr5:112666200-112667200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:112666200-112667200	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:112666200-112667200	Enhancers	Adipose Nuclei	Adipose
24	chr5:112666200-112667200	Enhancers	HMEC	breast
25	chr5:112666200-112667200	Enhancers	NH-A	brain
26	chr5:112666200-112667200	Enhancers	Osteobl	bone
27	chr5:112666200-112668000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:112666400-112667000	Enhancers	Brain Hippocampus Middle	brain
29	chr5:112666400-112667000	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr5:112666400-112667200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:112666400-112667200	Flanking Active TSS	HSMMtube	muscle
32	chr5:112666400-112667200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:112666400-112667200	Enhancers	NHDF-Ad	bronchial
34	chr5:112666400-112668600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:112666400-112670600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:112666400-112670600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:112666600-112667000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr5:112666600-112667000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:112666600-112667000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:112666600-112667000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:112666600-112667000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr5:112666600-112667000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:112666600-112667000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:112666600-112667000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:112666600-112667000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:112666600-112667000	Enhancers	Brain Angular Gyrus	brain
47	chr5:112666600-112667000	Enhancers	Brain Cingulate Gyrus	brain
48	chr5:112666600-112667000	Enhancers	Colon Smooth Muscle	Colon
49	chr5:112666600-112667000	Enhancers	Esophagus	oesophagus
50	chr5:112666600-112667000	Enhancers	Pancreatic Islets	Pancreatic Islet

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