Variant report

Variant	esv3469700
Chromosome Location	chr5:107362376-107373479
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:107364061..107366146-chr5:107369915..107372470,2	K562	blood:
2	chr5:107364061..107366146-chr5:107369915..107372470,2	K562	blood:

Extended variants
information (count: 412 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540868977	chr5:107362380-107362381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563950686	chr5:107362384-107362385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564470785	chr5:107362443-107362444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73206542	chr5:107362460-107362461	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550068558	chr5:107362479-107362480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73778625	chr5:107362483-107362484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192467859	chr5:107362562-107362563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548781803	chr5:107362566-107362567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565826257	chr5:107362591-107362592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73778626	chr5:107362640-107362641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs57486712	chr5:107362692-107362693	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs288162	chr5:107362717-107362718	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540104084	chr5:107362730-107362731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556850521	chr5:107362804-107362805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183623123	chr5:107362808-107362809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535892372	chr5:107362889-107362890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140902483	chr5:107362915-107362916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572169103	chr5:107362929-107362930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541128569	chr5:107362944-107362945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563909666	chr5:107362999-107363000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144874763	chr5:107363010-107363011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543333492	chr5:107363012-107363013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114633882	chr5:107363022-107363023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189001790	chr5:107363052-107363053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542646422	chr5:107363090-107363091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115897274	chr5:107363103-107363104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146739779	chr5:107363111-107363112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140315540	chr5:107363148-107363149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533601710	chr5:107363175-107363176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs200054083	chr5:107363201-107363202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201382246	chr5:107363206-107363207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34901511	chr5:107363208-107363209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550206585	chr5:107363260-107363261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570370894	chr5:107363289-107363290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75688518	chr5:107363294-107363295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563770743	chr5:107363299-107363300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555688061	chr5:107363317-107363318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565756308	chr5:107363333-107363334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374093577	chr5:107363342-107363343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17381296	chr5:107363416-107363417	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557861860	chr5:107363444-107363445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577394979	chr5:107363469-107363470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543648665	chr5:107363490-107363491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556965824	chr5:107363491-107363492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573837615	chr5:107363533-107363534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10515384	chr5:107363542-107363543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs288161	chr5:107363554-107363555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs528127679	chr5:107363595-107363596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181426564	chr5:107363601-107363602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186233321	chr5:107363642-107363643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107339200-107364200	Weak transcription	Left Ventricle	heart
2	chr5:107339600-107364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:107339600-107373800	Weak transcription	Primary T cells from cord blood	blood
4	chr5:107344000-107364200	Weak transcription	Psoas Muscle	Psoas
5	chr5:107344400-107363800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:107352800-107364200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:107360800-107364200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:107361000-107364200	Weak transcription	Pancreas	Pancrea
9	chr5:107361000-107369800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:107361200-107368000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:107361600-107364200	Weak transcription	Right Atrium	heart
12	chr5:107361600-107369200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:107362000-107363800	Weak transcription	Fetal Heart	heart
14	chr5:107362200-107362600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:107362400-107363400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:107363400-107363800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:107363600-107364600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:107363800-107364600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:107363800-107364800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:107363800-107365200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:107364000-107364400	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:107364000-107364600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:107364000-107364600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:107364000-107365000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr5:107364000-107365200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:107364000-107365200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:107364000-107390000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:107364200-107364400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:107364200-107364400	Enhancers	Left Ventricle	heart
30	chr5:107364200-107364400	Genic enhancers	Pancreas	Pancrea
31	chr5:107364200-107364400	Enhancers	Psoas Muscle	Psoas
32	chr5:107364200-107364400	Enhancers	Right Atrium	heart
33	chr5:107364200-107365200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:107364200-107365200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr5:107364400-107373200	Weak transcription	Pancreas	Pancrea
36	chr5:107365200-107366200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:107365200-107369200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:107365800-107366400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr5:107366200-107366400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:107368000-107368400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:107369800-107370200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:107370200-107371400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:107371400-107372400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:107371800-107372800	Enhancers	HUVEC	blood vessel
45	chr5:107373200-107373400	Enhancers	Pancreas	Pancrea

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