Variant report

Variant	esv3379568
Chromosome Location	chr5:58495728-58495951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144708527	chr5:58495729-58495730	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28513138	chr5:58495730-58495731	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185192083	chr5:58495734-58495735	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555145367	chr5:58495739-58495740	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536238311	chr5:58495745-58495746	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111456950	chr5:58495747-58495748	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377299775	chr5:58495751-58495752	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138517018	chr5:58495768-58495769	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs56334860	chr5:58495775-58495776	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538737095	chr5:58495779-58495780	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189805198	chr5:58495781-58495782	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572202881	chr5:58495787-58495788	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540897025	chr5:58495792-58495793	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs199608719	chr5:58495794-58495795	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183716963	chr5:58495797-58495798	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189102339	chr5:58495798-58495799	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146093848	chr5:58495804-58495805	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560835439	chr5:58495807-58495808	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574410469	chr5:58495819-58495820	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543385218	chr5:58495823-58495824	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563348117	chr5:58495824-58495825	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532458738	chr5:58495827-58495828	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552630026	chr5:58495829-58495830	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143885795	chr5:58495831-58495832	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs70973200	chr5:58495832-58495833	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111206687	chr5:58495833-58495834	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111206688	chr5:58495834-58495835	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548833921	chr5:58495839-58495840	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199885052	chr5:58495846-58495847	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568736261	chr5:58495855-58495856	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537762365	chr5:58495856-58495857	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549749660	chr5:58495858-58495859	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs367841535	chr5:58495859-58495860	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201018241	chr5:58495861-58495862	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538304624	chr5:58495862-58495863	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74188536	chr5:58495864-58495865	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs28430839	chr5:58495868-58495869	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572080867	chr5:58495869-58495870	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28490233	chr5:58495870-58495871	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554368091	chr5:58495871-58495872	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574347138	chr5:58495872-58495873	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369992810	chr5:58495879-58495880	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs28460862	chr5:58495882-58495883	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201854196	chr5:58495883-58495884	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373105313	chr5:58495888-58495889	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114315245	chr5:58495892-58495893	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201306064	chr5:58495895-58495896	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373907618	chr5:58495896-58495897	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376325356	chr5:58495901-58495902	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577162756	chr5:58495903-58495904	Weak transcription ZNF genes & repeats Enhancers Genic 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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58474400-58520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr5:58484800-58501200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:58485000-58499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:58485000-58505200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:58485000-58518800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:58485600-58500400	Weak transcription	Psoas Muscle	Psoas
7	chr5:58485600-58501600	Weak transcription	HUVEC	blood vessel
8	chr5:58485600-58512400	Weak transcription	Pancreas	Pancrea
9	chr5:58485600-58518200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:58486000-58508600	Weak transcription	Fetal Intestine Large	intestine
11	chr5:58489800-58500400	Weak transcription	Right Ventricle	heart
12	chr5:58490000-58495800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:58490000-58500400	Weak transcription	Left Ventricle	heart
14	chr5:58490000-58509800	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:58490000-58511600	Weak transcription	Gastric	stomach
16	chr5:58490400-58501200	Weak transcription	Fetal Heart	heart
17	chr5:58490400-58519200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:58491400-58505800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:58491400-58509000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:58491400-58515600	Weak transcription	Fetal Stomach	stomach
21	chr5:58492000-58505600	Weak transcription	Hela-S3	cervix
22	chr5:58492400-58510600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:58493400-58500800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:58494000-58496000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:58494400-58495800	Weak transcription	Fetal Lung	lung
26	chr5:58494400-58495800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:58494400-58500400	Weak transcription	Brain Substantia Nigra	brain
28	chr5:58494400-58513600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:58494600-58510000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:58494800-58500200	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:58494800-58500200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:58495000-58495800	Weak transcription	A549	lung
33	chr5:58495600-58496200	ZNF genes & repeats	Fetal Kidney	kidney
34	chr5:58495800-58496000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:58495800-58496000	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:58495800-58496000	ZNF genes & repeats	Fetal Lung	lung
37	chr5:58495800-58496000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
38	chr5:58495800-58496000	Genic enhancers	Rectal Smooth Muscle	rectum
39	chr5:58495800-58496200	ZNF genes & repeats	A549	lung

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