Variant report

Variant	esv2592018
Chromosome Location	chr5:9411205-9412480
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	chr5:9381269..9382974-chr5:9409128..9411657,2	K562	blood:
2	chr5:9411641..9414398-chr5:9416459..9418112,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6879538	chr5:9411249-9411250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567958102	chr5:9411285-9411286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536896655	chr5:9411327-9411328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530367878	chr5:9411468-9411469	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17257513	chr5:9411503-9411504	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576728959	chr5:9411504-9411505	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149679140	chr5:9411509-9411510	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552721057	chr5:9411513-9411514	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190745117	chr5:9411548-9411549	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117851601	chr5:9411551-9411552	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561421251	chr5:9411557-9411558	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145455972	chr5:9411564-9411565	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544097039	chr5:9411577-9411578	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs80073260	chr5:9411591-9411592	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141082117	chr5:9411617-9411618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552530419	chr5:9411662-9411663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559525776	chr5:9411737-9411738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs2456235	chr5:9411760-9411761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146008386	chr5:9411774-9411775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200499671	chr5:9411775-9411776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574925794	chr5:9411778-9411779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201247398	chr5:9412066-9412067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202177930	chr5:9412067-9412068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200278415	chr5:9412069-9412070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72729105	chr5:9412074-9412075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57126027	chr5:9412079-9412080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183341530	chr5:9412179-9412180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548277194	chr5:9412208-9412209	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76614480	chr5:9412241-9412242	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536862781	chr5:9412272-9412273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552178743	chr5:9412273-9412274	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570701803	chr5:9412342-9412343	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539392720	chr5:9412358-9412359	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552932406	chr5:9412383-9412384	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147011037	chr5:9412410-9412411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16882680	chr5:9412411-9412412	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555520097	chr5:9412462-9412463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9374800-9418600	Weak transcription	Aorta	Aorta
2	chr5:9379000-9434800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr5:9379000-9436200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:9380200-9429800	Weak transcription	Ovary	ovary
5	chr5:9380400-9418600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:9380400-9418800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:9380600-9419400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:9387000-9418800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:9390200-9419200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:9392200-9419000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:9395800-9450200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:9397000-9419400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:9398600-9416200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:9398600-9435600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:9404600-9422200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:9405400-9418400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:9406000-9415400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:9408000-9419400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:9408400-9419400	Weak transcription	Esophagus	oesophagus
20	chr5:9409600-9422000	Weak transcription	Fetal Kidney	kidney
21	chr5:9409800-9411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:9409800-9415400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:9410000-9411400	Weak transcription	Left Ventricle	heart
24	chr5:9410000-9412200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:9410000-9412400	Enhancers	Fetal Intestine Small	intestine
26	chr5:9410000-9419400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:9410000-9422200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr5:9410200-9411800	Enhancers	Liver	Liver
29	chr5:9410200-9411800	Enhancers	Fetal Intestine Large	intestine
30	chr5:9410600-9411600	Enhancers	Fetal Lung	lung
31	chr5:9410600-9411800	Enhancers	Pancreas	Pancrea
32	chr5:9411000-9414400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr5:9411000-9430400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:9411200-9411400	Weak transcription	Fetal Stomach	stomach
35	chr5:9411200-9411600	Enhancers	Fetal Heart	heart
36	chr5:9411400-9411600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:9411400-9411600	Enhancers	Fetal Stomach	stomach
38	chr5:9411400-9411600	Enhancers	Left Ventricle	heart
39	chr5:9411600-9418600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:9411600-9419000	Weak transcription	Fetal Heart	heart
41	chr5:9411600-9419600	Weak transcription	Fetal Stomach	stomach
42	chr5:9411800-9426800	Weak transcription	Fetal Intestine Large	intestine
43	chr5:9412200-9413800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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