Variant report

Variant	esv3440423
Chromosome Location	chr5:9330252-9334550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs184918272	chr5:9330268-9330269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560403770	chr5:9330273-9330274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574073197	chr5:9330277-9330278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529211190	chr5:9330282-9330283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189771761	chr5:9330288-9330289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373082213	chr5:9330293-9330294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183132502	chr5:9330330-9330331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551080093	chr5:9330345-9330346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570687113	chr5:9330362-9330363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187648624	chr5:9330370-9330371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553350573	chr5:9330411-9330412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6864003	chr5:9330419-9330420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs193285683	chr5:9330429-9330430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370911732	chr5:9330458-9330459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183381019	chr5:9330468-9330469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10564647	chr5:9330502-9330503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11386960	chr5:9330528-9330529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372703120	chr5:9330531-9330532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146152668	chr5:9330533-9330534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578192762	chr5:9330544-9330545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200229375	chr5:9330565-9330566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372530063	chr5:9330611-9330612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544689522	chr5:9330719-9330720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564574312	chr5:9330729-9330730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375810055	chr5:9330808-9330809	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549976195	chr5:9330821-9330822	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188679802	chr5:9330829-9330830	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540416828	chr5:9330849-9330850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560133293	chr5:9330864-9330865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192566883	chr5:9330865-9330866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184957269	chr5:9330893-9330894	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562472874	chr5:9330901-9330902	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74809523	chr5:9330921-9330922	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377462893	chr5:9330936-9330937	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551018725	chr5:9330959-9330960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188184650	chr5:9330967-9330968	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533682060	chr5:9330976-9330977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145450566	chr5:9331016-9331017	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148915981	chr5:9331109-9331110	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566983398	chr5:9331156-9331157	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562887706	chr5:9331210-9331211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536111337	chr5:9331244-9331245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555806986	chr5:9331249-9331250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560539883	chr5:9331264-9331265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575663217	chr5:9331320-9331321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370647994	chr5:9331345-9331346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73050519	chr5:9331348-9331349	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527911866	chr5:9331349-9331350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370112205	chr5:9331417-9331418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9313273	chr5:9331477-9331478	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Lung adenocarcinoma	17982442	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9279800-9332000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:9283600-9332200	Weak transcription	Esophagus	oesophagus
3	chr5:9286000-9332200	Weak transcription	NHLF	lung
4	chr5:9292200-9332200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:9297800-9334600	Weak transcription	Left Ventricle	heart
6	chr5:9298200-9332200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:9299800-9332400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:9300000-9335400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:9301800-9332400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:9302000-9335600	Weak transcription	Liver	Liver
11	chr5:9306200-9332000	Weak transcription	Fetal Stomach	stomach
12	chr5:9307400-9332200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr5:9308600-9332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:9308800-9346600	Weak transcription	Ovary	ovary
15	chr5:9315200-9332200	Weak transcription	Fetal Kidney	kidney
16	chr5:9315200-9335200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:9317200-9332200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:9319000-9335800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:9319400-9332200	Weak transcription	Fetal Intestine Small	intestine
20	chr5:9319400-9335000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:9320400-9332200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:9321000-9332200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:9321000-9332200	Weak transcription	Pancreas	Pancrea
24	chr5:9325200-9335400	Weak transcription	Fetal Muscle Leg	muscle
25	chr5:9325200-9335600	Weak transcription	Osteobl	bone
26	chr5:9325400-9330800	Weak transcription	NHDF-Ad	bronchial
27	chr5:9325400-9332000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:9325400-9336200	Weak transcription	Fetal Lung	lung
29	chr5:9325600-9332200	Weak transcription	Fetal Heart	heart
30	chr5:9326000-9331000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:9326400-9330800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:9326600-9332000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:9326600-9332200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr5:9326600-9332200	Weak transcription	Fetal Intestine Large	intestine
35	chr5:9326800-9332400	Weak transcription	Spleen	Spleen
36	chr5:9329400-9337800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr5:9329800-9332000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:9329800-9335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:9330000-9330800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:9330000-9332000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:9330000-9332200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr5:9330800-9331200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr5:9330800-9331200	Enhancers	NHDF-Ad	bronchial
44	chr5:9330800-9334000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:9331000-9331200	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:9331000-9331600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:9331200-9334200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr5:9331200-9335400	Weak transcription	NHDF-Ad	bronchial
49	chr5:9331200-9346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:9331400-9333800	Weak transcription	H9 Cell Line	embryonic stem cell

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