Variant report

Variant	esv3405804
Chromosome Location	chr5:57774995-57779993
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 206 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562764132	chr5:57775008-57775009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150954482	chr5:57775026-57775027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74456378	chr5:57775073-57775074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188184950	chr5:57775106-57775107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140938088	chr5:57775148-57775149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369356170	chr5:57775193-57775194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143138065	chr5:57775198-57775199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372098941	chr5:57775215-57775216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72758187	chr5:57775300-57775301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181798177	chr5:57775340-57775341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369067802	chr5:57775359-57775360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566122408	chr5:57775360-57775361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570595184	chr5:57775397-57775398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199741776	chr5:57775405-57775406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570821787	chr5:57775407-57775408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35395230	chr5:57775408-57775409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397732136	chr5:57775416-57775417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533599169	chr5:57775485-57775486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373038860	chr5:57775517-57775518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534591092	chr5:57775555-57775556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186337029	chr5:57775560-57775561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192455872	chr5:57775575-57775576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543316101	chr5:57775606-57775607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183347065	chr5:57775612-57775613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140698858	chr5:57775695-57775696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543638241	chr5:57775760-57775761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552231274	chr5:57775788-57775789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565024648	chr5:57775798-57775799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11955212	chr5:57775818-57775819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373200365	chr5:57775826-57775827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34831223	chr5:57775840-57775841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541066741	chr5:57775941-57775942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150485209	chr5:57775998-57775999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528606127	chr5:57775999-57776000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544982989	chr5:57776003-57776004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs832640	chr5:57776008-57776009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs187162367	chr5:57776015-57776016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191145708	chr5:57776028-57776029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183310493	chr5:57776057-57776058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79544669	chr5:57776058-57776059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571624122	chr5:57776074-57776075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552442332	chr5:57776076-57776077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570558996	chr5:57776185-57776186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534710901	chr5:57776204-57776205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552653806	chr5:57776232-57776233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35301696	chr5:57776273-57776274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186616186	chr5:57776288-57776289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191509559	chr5:57776345-57776346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536517929	chr5:57776380-57776381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555223909	chr5:57776403-57776404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57771400-57777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:57773200-57785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:57774200-57779000	Weak transcription	Primary B cells from cord blood	blood
4	chr5:57774200-57779400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr5:57774200-57780000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:57774400-57776600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:57774400-57779000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:57776600-57776800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr5:57776600-57776800	Enhancers	Fetal Kidney	kidney
10	chr5:57776600-57777000	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:57776800-57777000	Enhancers	Right Ventricle	heart
12	chr5:57776800-57778000	ZNF genes & repeats	Fetal Kidney	kidney
13	chr5:57776800-57778400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:57777000-57777400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:57777000-57777400	Enhancers	Gastric	stomach
16	chr5:57777000-57778200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:57777200-57778600	Enhancers	Spleen	Spleen
18	chr5:57777400-57777800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:57777400-57778200	Weak transcription	Gastric	stomach
20	chr5:57778200-57782800	Enhancers	Primary B cells from peripheral blood	blood
21	chr5:57778400-57778600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:57778400-57779400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:57778600-57778800	Weak transcription	Spleen	Spleen
24	chr5:57778600-57779400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:57779000-57779200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr5:57779000-57780400	Enhancers	Primary B cells from cord blood	blood
27	chr5:57779000-57782400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr5:57779200-57779800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:57779400-57780000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:57779400-57783600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:57779800-57780400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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