Variant report

Variant	nsv823074
Chromosome Location	chr5:53386675-53388230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:53385194..53387158-chr5:53524729..53526596,2	K562	blood:
2	chr5:53378866..53381828-chr5:53385166..53386974,2	K562	blood:
3	chr5:53384687..53387380-chr5:53439690..53441748,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534466886	chr5:53386682-53386683	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs184239855	chr5:53386690-53386691	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187427082	chr5:53386709-53386710	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs192087244	chr5:53386768-53386769	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545998719	chr5:53386782-53386783	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372223605	chr5:53386785-53386786	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564576890	chr5:53386790-53386791	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528509426	chr5:53386838-53386839	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546578436	chr5:53386870-53386871	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568460958	chr5:53386888-53386889	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572224452	chr5:53386921-53386922	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs77343629	chr5:53386947-53386948	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs74715672	chr5:53386972-53386973	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139841621	chr5:53387050-53387051	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs569364286	chr5:53387057-53387058	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs3776670	chr5:53387079-53387080	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531772852	chr5:53387084-53387085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552011996	chr5:53387097-53387098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570513705	chr5:53387102-53387103	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534646715	chr5:53387162-53387163	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs74837967	chr5:53387168-53387169	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs185321807	chr5:53387171-53387172	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs550177276	chr5:53387173-53387174	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143812123	chr5:53387182-53387183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs557188548	chr5:53387230-53387231	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs147256306	chr5:53387236-53387237	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs190614812	chr5:53387245-53387246	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182123554	chr5:53387300-53387301	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs368031759	chr5:53387354-53387355	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs184282565	chr5:53387379-53387380	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs114178440	chr5:53387509-53387510	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs34413698	chr5:53387544-53387545	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs114548886	chr5:53387554-53387555	Enhancers Weak transcription Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568059007	chr5:53387611-53387612	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs529213314	chr5:53387643-53387644	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs562209738	chr5:53387672-53387673	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563173348	chr5:53387712-53387713	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs533396809	chr5:53387713-53387714	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs695905	chr5:53387761-53387762	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs27877	chr5:53387784-53387785	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs534201010	chr5:53387811-53387812	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs566573710	chr5:53387848-53387849	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs570502543	chr5:53387859-53387860	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534713053	chr5:53387864-53387865	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs372993381	chr5:53387878-53387879	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs143647206	chr5:53387903-53387904	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs546678828	chr5:53387904-53387905	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568078657	chr5:53387915-53387916	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535415380	chr5:53387916-53387917	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369903239	chr5:53387928-53387929	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Chronic lymphocytic leukemia	21546498	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:53316200-53387400	Weak transcription	Left Ventricle	heart
2	chr5:53357000-53408000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:53365200-53391200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:53368600-53388800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:53377400-53412200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:53377600-53390800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:53377800-53408600	Weak transcription	Primary B cells from cord blood	blood
8	chr5:53379800-53387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:53380000-53389000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:53380200-53387200	Weak transcription	Gastric	stomach
11	chr5:53380200-53389000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:53380200-53394200	Weak transcription	Spleen	Spleen
13	chr5:53380600-53387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:53380600-53408600	Weak transcription	Fetal Intestine Large	intestine
15	chr5:53380800-53399400	Weak transcription	Primary T cells from cord blood	blood
16	chr5:53380800-53408600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:53383000-53387400	Weak transcription	Fetal Stomach	stomach
18	chr5:53383000-53387600	Weak transcription	Right Ventricle	heart
19	chr5:53383400-53387000	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:53383800-53387400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:53384000-53386800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:53384000-53387000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr5:53384400-53391000	Weak transcription	Fetal Kidney	kidney
24	chr5:53384600-53387000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:53384600-53387200	Weak transcription	Fetal Heart	heart
26	chr5:53384600-53389000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:53384600-53389000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:53385800-53389400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:53386200-53387600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr5:53386200-53387800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:53386200-53387800	Enhancers	Hela-S3	cervix
32	chr5:53386200-53387800	Enhancers	HSMM	muscle
33	chr5:53386200-53388000	Enhancers	A549	lung
34	chr5:53386200-53388000	Enhancers	NHDF-Ad	bronchial
35	chr5:53386200-53390600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr5:53386200-53391600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:53386400-53386800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:53386400-53386800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:53386400-53386800	Weak transcription	NHLF	lung
40	chr5:53386400-53386800	Enhancers	Osteobl	bone
41	chr5:53386400-53387000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr5:53386400-53387200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:53386400-53387600	Enhancers	HUVEC	blood vessel
44	chr5:53386400-53387600	Enhancers	NH-A	brain
45	chr5:53386400-53387800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:53386400-53387800	Enhancers	K562	blood
47	chr5:53386400-53388000	Enhancers	HSMMtube	muscle
48	chr5:53386400-53390000	Enhancers	HMEC	breast
49	chr5:53386600-53386800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:53386600-53386800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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