Variant report

Variant	esv3350487
Chromosome Location	chr5:58509777-58510148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs467300	chr5:58509816-58509817	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539869128	chr5:58509852-58509853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550757581	chr5:58509859-58509860	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528559527	chr5:58509901-58509902	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112309384	chr5:58509903-58509904	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144927626	chr5:58509971-58509972	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535627078	chr5:58509989-58509990	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142070131	chr5:58509993-58509994	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548986435	chr5:58510011-58510012	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544885050	chr5:58510012-58510013	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558056173	chr5:58510040-58510041	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546745931	chr5:58510041-58510042	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545409424	chr5:58510042-58510043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558998156	chr5:58510070-58510071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528194676	chr5:58510071-58510072	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144163281	chr5:58510075-58510076	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561913067	chr5:58510118-58510119	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567387722	chr5:58510146-58510147	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
4	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
6	chr5:58490000-58511600	Weak transcription	Gastric	stomach
7	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
9	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:58494600-58510000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:58496200-58515600	Weak transcription	Fetal Kidney	kidney
13	chr5:58501800-58512400	Weak transcription	Fetal Brain Male	brain
14	chr5:58502000-58517200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr5:58503200-58514400	Weak transcription	HUVEC	blood vessel
16	chr5:58504200-58510200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:58504600-58510200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:58505800-58512000	Genic enhancers	A549	lung
19	chr5:58506000-58509800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr5:58506200-58512600	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr5:58506400-58512400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:58506400-58518200	Weak transcription	Left Ventricle	heart
23	chr5:58506400-58520400	Weak transcription	Stomach Mucosa	stomach
24	chr5:58506600-58509800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:58506600-58513200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr5:58509000-58509800	Enhancers	Fetal Intestine Small	intestine
27	chr5:58509000-58510000	Enhancers	Psoas Muscle	Psoas
28	chr5:58509000-58510000	Enhancers	Hela-S3	cervix
29	chr5:58509200-58510200	Weak transcription	Fetal Intestine Large	intestine
30	chr5:58509200-58510600	Genic enhancers	Colon Smooth Muscle	Colon
31	chr5:58509200-58518400	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:58509400-58510200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:58509400-58518800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:58509600-58509800	Enhancers	Fetal Heart	heart
35	chr5:58509600-58510000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
36	chr5:58509600-58510600	Genic enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:58509600-58511000	Enhancers	Fetal Lung	lung
38	chr5:58509800-58510200	Genic enhancers	Fetal Heart	heart
39	chr5:58509800-58510200	Strong transcription	Fetal Muscle Leg	muscle
40	chr5:58509800-58511000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr5:58509800-58512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:58509800-58512400	Weak transcription	Fetal Intestine Small	intestine
43	chr5:58510000-58510200	Genic enhancers	Hela-S3	cervix
44	chr5:58510000-58510800	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr5:58510000-58511800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:58510000-58515600	Weak transcription	Psoas Muscle	Psoas

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