Variant report

Variant	esv3468761
Chromosome Location	chr5:7907479-7908151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185093561	chr5:7907532-7907533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529296322	chr5:7907541-7907542	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560013696	chr5:7907581-7907582	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190834690	chr5:7907628-7907629	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562949058	chr5:7907681-7907682	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200751068	chr5:7907763-7907764	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533423105	chr5:7907764-7907765	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531812324	chr5:7907781-7907782	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147226366	chr5:7907783-7907784	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571770769	chr5:7907806-7907807	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140591888	chr5:7907843-7907844	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74477950	chr5:7907847-7907848	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549904537	chr5:7907868-7907869	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374868308	chr5:7907925-7907926	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182070858	chr5:7907942-7907943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144425380	chr5:7907943-7907944	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187225615	chr5:7907988-7907989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115746699	chr5:7908014-7908015	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188289040	chr5:7908030-7908031	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558375052	chr5:7908088-7908089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572203143	chr5:7908129-7908130	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534557520	chr5:7908147-7908148	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180754209	chr5:7908148-7908149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67902045	chr5:7908151-7908152	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
early-passage human iPS cells	21368824	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7874000-7909200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:7895400-7909600	Weak transcription	Fetal Heart	heart
4	chr5:7899600-7910000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:7899600-7912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:7899800-7909200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:7899800-7909200	Weak transcription	Esophagus	oesophagus
8	chr5:7900000-7909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:7900000-7914600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:7900600-7909200	Weak transcription	Gastric	stomach
11	chr5:7902200-7909000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:7902400-7907800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr5:7902400-7907800	Weak transcription	Psoas Muscle	Psoas
14	chr5:7902400-7909000	Weak transcription	Aorta	Aorta
15	chr5:7902400-7909000	Weak transcription	Right Ventricle	heart
16	chr5:7902400-7909000	Weak transcription	K562	blood
17	chr5:7902400-7910200	Weak transcription	Fetal Brain Male	brain
18	chr5:7902400-7910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:7902400-7911200	Weak transcription	Fetal Kidney	kidney
20	chr5:7902800-7907600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr5:7902800-7911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr5:7903400-7908200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:7903400-7908200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:7903400-7909000	Weak transcription	Colonic Mucosa	Colon
25	chr5:7903400-7909200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:7903400-7911000	Weak transcription	Fetal Thymus	thymus
27	chr5:7903600-7908200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr5:7903600-7909000	Weak transcription	Brain Angular Gyrus	brain
29	chr5:7903600-7909200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:7903600-7916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:7903800-7907600	Weak transcription	GM12878-XiMat	blood
32	chr5:7903800-7907800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:7903800-7913600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:7904000-7907600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:7904000-7907600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:7904000-7907800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:7904000-7908000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr5:7904000-7908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:7904000-7909000	Weak transcription	Lung	lung
40	chr5:7904000-7909000	Weak transcription	Spleen	Spleen
41	chr5:7904000-7911400	Weak transcription	Small Intestine	intestine
42	chr5:7904200-7907800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr5:7904200-7909000	Weak transcription	Placenta	Placenta
44	chr5:7904200-7909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:7904200-7909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr5:7904200-7910800	Weak transcription	Thymus	Thymus
47	chr5:7904200-7912000	Weak transcription	Pancreas	Pancrea
48	chr5:7904200-7912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:7904400-7907800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:7904400-7907800	Weak transcription	Fetal Muscle Trunk	muscle

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