Variant report

Variant	nsv1025807
Chromosome Location	chr5:58520050-58548231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:58532712..58534586-chr5:58538179..58539997,2	K562	blood:
2	chr5:58532712..58534586-chr5:58538179..58539997,2	K562	blood:
3	chr5:58529142..58529735-chr6:26031124..26031817,2	Hela-S3	cervix:

Extended variants
information (count: 1122 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1122 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs255579	chr5:58520050-58520051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192224263	chr5:58520069-58520070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550539508	chr5:58520073-58520074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35131890	chr5:58520080-58520081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6860418	chr5:58520113-58520114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35273659	chr5:58520119-58520120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375025104	chr5:58520120-58520121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562443440	chr5:58520130-58520131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142611058	chr5:58520145-58520146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs70975304	chr5:58520155-58520156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565426717	chr5:58520156-58520157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78044307	chr5:58520187-58520188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs67656226	chr5:58520224-58520225	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571340680	chr5:58520262-58520263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533701205	chr5:58520317-58520318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115162622	chr5:58520427-58520428	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567165157	chr5:58520457-58520458	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs153982	chr5:58520536-58520537	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182533365	chr5:58520601-58520602	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529708309	chr5:58520614-58520615	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545321857	chr5:58520669-58520670	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569702191	chr5:58520694-58520695	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369950825	chr5:58520699-58520700	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539042482	chr5:58520709-58520710	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558756110	chr5:58520720-58520721	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2112956	chr5:58520735-58520736	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs541206057	chr5:58520749-58520750	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137964651	chr5:58520821-58520822	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369219908	chr5:58520882-58520883	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187190691	chr5:58520902-58520903	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544112550	chr5:58520927-58520928	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563986641	chr5:58520943-58520944	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531178413	chr5:58520993-58520994	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149480024	chr5:58521129-58521130	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112226488	chr5:58521137-58521138	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564788762	chr5:58521138-58521139	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539773198	chr5:58521143-58521144	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559871817	chr5:58521192-58521193	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371405112	chr5:58521221-58521222	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527372797	chr5:58521281-58521282	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12656944	chr5:58521291-58521292	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192712608	chr5:58521319-58521320	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143967332	chr5:58521341-58521342	Weak transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549632722	chr5:58521425-58521426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs552485488	chr5:58521493-58521494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs146934214	chr5:58521497-58521498	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs58337838	chr5:58521498-58521499	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs184523648	chr5:58521516-58521517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs538611351	chr5:58521542-58521543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs75556470	chr5:58521567-58521568	Weak transcription ZNF genes & repeats	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:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58506400-58520400	Weak transcription	Stomach Mucosa	stomach
2	chr5:58511800-58521600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:58512800-58532400	Weak transcription	Pancreas	Pancrea
4	chr5:58516000-58530600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:58516200-58531000	Weak transcription	Psoas Muscle	Psoas
6	chr5:58517800-58520200	Enhancers	Colon Smooth Muscle	Colon
7	chr5:58518000-58520400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr5:58518400-58520200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:58518400-58520400	Enhancers	Hela-S3	cervix
10	chr5:58518400-58527000	Weak transcription	Fetal Heart	heart
11	chr5:58519200-58520200	Enhancers	HUVEC	blood vessel
12	chr5:58519200-58523400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:58519200-58535000	Weak transcription	Left Ventricle	heart
14	chr5:58519400-58520200	Weak transcription	Fetal Intestine Large	intestine
15	chr5:58519400-58520400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:58519400-58520400	Enhancers	A549	lung
17	chr5:58519400-58523600	Weak transcription	Fetal Kidney	kidney
18	chr5:58519400-58524000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:58519400-58529600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:58520000-58520200	Enhancers	Right Ventricle	heart
21	chr5:58520000-58520200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:58520000-58520400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:58520200-58520400	Enhancers	Fetal Intestine Large	intestine
24	chr5:58520200-58520600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:58520400-58520600	Weak transcription	Fetal Intestine Large	intestine
26	chr5:58520400-58520600	Genic enhancers	A549	lung
27	chr5:58520400-58520800	Enhancers	Stomach Mucosa	stomach
28	chr5:58520400-58521400	Genic enhancers	Hela-S3	cervix
29	chr5:58520600-58520800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:58520600-58522800	ZNF genes & repeats	A549	lung
31	chr5:58520800-58537000	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr5:58521400-58532800	Weak transcription	Hela-S3	cervix
33	chr5:58521600-58521800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:58522800-58526000	Weak transcription	A549	lung
35	chr5:58523400-58526800	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:58526000-58526800	Enhancers	A549	lung
37	chr5:58526800-58527400	Enhancers	Colon Smooth Muscle	Colon
38	chr5:58526800-58528000	Genic enhancers	A549	lung
39	chr5:58527000-58528400	Enhancers	Fetal Heart	heart
40	chr5:58527200-58527400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:58527200-58527400	Enhancers	Aorta	Aorta
42	chr5:58527200-58528000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr5:58527400-58530200	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:58527400-58549800	Weak transcription	Aorta	Aorta
45	chr5:58528000-58529000	Enhancers	A549	lung
46	chr5:58528000-58529400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:58528400-58529600	Weak transcription	Fetal Heart	heart
48	chr5:58529000-58529600	Weak transcription	A549	lung
49	chr5:58529400-58529800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr5:58529400-58532000	Enhancers	Skeletal Muscle Male	skeletal muscle

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