Variant report

Variant	nsv518283
Chromosome Location	chr5:103647014-103676341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:103662029..103663844-chr5:103689569..103691158,2	MCF-7	breast:
2	chr5:103541472..103544045-chr5:103667629..103669884,2	K562	blood:

Extended variants
information (count: 446 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:446 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552044072	chr5:103653628-103653629	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs146644672	chr5:103653656-103653657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs532910691	chr5:103653670-103653671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs188235371	chr5:103653674-103653675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371568532	chr5:103653715-103653716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs141337410	chr5:103653745-103653746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs62362379	chr5:103653801-103653802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs9327899	chr5:103653809-103653810	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77239307	chr5:103653838-103653839	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs62362380	chr5:103653870-103653871	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557698749	chr5:103653890-103653891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs376995819	chr5:103653915-103653916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs367779349	chr5:103653947-103653948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs1900151	chr5:103653979-103653980	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536811914	chr5:103653987-103653988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557438328	chr5:103654010-103654011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574004720	chr5:103654062-103654063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10071745	chr5:103654077-103654078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553393577	chr5:103654093-103654094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573613318	chr5:103654105-103654106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545693035	chr5:103654112-103654113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555334965	chr5:103654131-103654132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13155874	chr5:103654136-103654137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531149967	chr5:103654159-103654160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77156889	chr5:103654180-103654181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563447230	chr5:103654204-103654205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528948299	chr5:103654337-103654338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143816997	chr5:103654338-103654339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191652658	chr5:103654343-103654344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578117899	chr5:103654358-103654359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528049982	chr5:103654361-103654362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146805504	chr5:103654369-103654370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571412114	chr5:103654453-103654454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10479283	chr5:103654581-103654582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183792550	chr5:103654584-103654585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567800471	chr5:103654593-103654594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375737606	chr5:103654642-103654643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536728708	chr5:103654651-103654652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188178101	chr5:103654829-103654830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371559758	chr5:103654863-103654864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373637619	chr5:103654907-103654908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6896835	chr5:103654928-103654929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376546199	chr5:103654930-103654931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79054744	chr5:103654931-103654932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372888888	chr5:103654961-103654962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575799647	chr5:103655002-103655003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544833637	chr5:103655017-103655018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185626965	chr5:103655019-103655020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528986085	chr5:103655021-103655022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190102454	chr5:103655030-103655031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103653600-103654000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:103654000-103658400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:103661200-103661400	Enhancers	Fetal Brain Male	brain
4	chr5:103662800-103663200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:103662800-103664400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:103663200-103663600	Enhancers	Fetal Brain Male	brain
7	chr5:103663400-103664200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:103663600-103667600	Weak transcription	Fetal Brain Male	brain
9	chr5:103674200-103675000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:103674600-103674800	Enhancers	Fetal Lung	lung
11	chr5:103674800-103675800	Weak transcription	Fetal Lung	lung
12	chr5:103675000-103676600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:103675000-103678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:103675200-103676200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:103675200-103676400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:103675200-103676600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:103675600-103676200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:103675600-103676400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:103675600-103676600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr5:103675800-103676200	Enhancers	Fetal Lung	lung
21	chr5:103675800-103676600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:103676000-103676600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:103676200-103680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:103676200-103681000	Weak transcription	Fetal Lung	lung

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