Variant report

Variant	esv3438759
Chromosome Location	chr5:89276596-89281994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573218244	chr5:89276622-89276623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145792866	chr5:89276712-89276713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555628783	chr5:89276739-89276740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575635187	chr5:89276761-89276762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544660523	chr5:89276842-89276843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564425067	chr5:89276883-89276884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563013904	chr5:89276893-89276894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533317283	chr5:89276909-89276910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540270224	chr5:89276989-89276990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs767265	chr5:89277015-89277016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531723804	chr5:89277087-89277088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538031920	chr5:89277101-89277102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554510528	chr5:89277138-89277139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187765103	chr5:89277156-89277157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112095044	chr5:89277195-89277196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs367750341	chr5:89277205-89277206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141049302	chr5:89277216-89277217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150259104	chr5:89277232-89277233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574180498	chr5:89277247-89277248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183600925	chr5:89277318-89277319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370247538	chr5:89277322-89277323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138956701	chr5:89277353-89277354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570463617	chr5:89277389-89277390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75652732	chr5:89277407-89277408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188493904	chr5:89277455-89277456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16868086	chr5:89277457-89277458	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs555392486	chr5:89277458-89277459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575369306	chr5:89277470-89277471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192859047	chr5:89277473-89277474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2566481	chr5:89277561-89277562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183075209	chr5:89277589-89277590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578069781	chr5:89277621-89277622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540209141	chr5:89277631-89277632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560148504	chr5:89277674-89277675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573712424	chr5:89277697-89277698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149448916	chr5:89277715-89277716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548731123	chr5:89277718-89277719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186638912	chr5:89277806-89277807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531893849	chr5:89277857-89277858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551728394	chr5:89277867-89277868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564205373	chr5:89277943-89277944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549722474	chr5:89277944-89277945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373371441	chr5:89277964-89277965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75481467	chr5:89277989-89277990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191453239	chr5:89277997-89277998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143046578	chr5:89278019-89278020	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183970168	chr5:89278054-89278055	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138711632	chr5:89278086-89278087	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10074210	chr5:89278099-89278100	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189419283	chr5:89278109-89278110	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Colorectal cancer	16774939	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89276600-89278000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:89276600-89278800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:89276800-89277400	Enhancers	Stomach Mucosa	stomach
4	chr5:89277000-89278600	Enhancers	NHDF-Ad	bronchial
5	chr5:89277400-89278600	Weak transcription	Stomach Mucosa	stomach
6	chr5:89278000-89278200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:89278000-89278200	Enhancers	Adipose Nuclei	Adipose
8	chr5:89278200-89278400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:89278400-89278600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:89278600-89278800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:89278600-89279400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:89278600-89283200	Weak transcription	NHDF-Ad	bronchial
13	chr5:89278800-89279000	Enhancers	Stomach Mucosa	stomach
14	chr5:89278800-89279400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:89278800-89280000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:89279000-89279400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:89279000-89279800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:89279400-89283000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:89279400-89283200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:89279800-89283000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr5:89280000-89283000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr5:89281600-89281800	Enhancers	Skeletal Muscle Male	skeletal muscle

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