Variant report

Variant	nsv1027380
Chromosome Location	chr5:45390669-45491601
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
2	chr5:45468898..45471467-chr5:45477657..45479826,2	MCF-7	breast:
3	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
4	chr3:104438340..104439030-chr5:45401914..45402431,2	MCF-7	breast:
5	chr5:45487505..45488239-chr6:10695353..10695968,2	MCF-7	breast:
6	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:
7	chr5:45389967..45392520-chr5:45393920..45396887,2	K562	blood:
8	chr5:45468898..45471467-chr5:45477657..45479826,2	MCF-7	breast:
9	chr5:45423533..45425292-chr5:45434104..45435924,2	MCF-7	breast:
10	chr1:205318512..205319277-chr5:45469628..45470349,2	MCF-7	breast:
11	chr5:45232284..45234490-chr5:45416046..45418115,2	MCF-7	breast:
12	chr5:45435601..45437646-chr5:45441992..45444757,2	K562	blood:

No data

Extended variants
information (count: 1058 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1058 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558663449	chr5:45395206-45395207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149560542	chr5:45395257-45395258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs62367557	chr5:45395260-45395261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530209232	chr5:45395262-45395263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182599730	chr5:45395299-45395300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548435478	chr5:45395327-45395328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188805300	chr5:45395350-45395351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146072638	chr5:45395391-45395392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528753444	chr5:45395413-45395414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373725047	chr5:45395444-45395445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73099498	chr5:45395456-45395457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs552964357	chr5:45395462-45395463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140170230	chr5:45395463-45395464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13157692	chr5:45395495-45395496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13157693	chr5:45395496-45395497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192888159	chr5:45395555-45395556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551044176	chr5:45395616-45395617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184248628	chr5:45395676-45395677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544858751	chr5:45395678-45395679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552030528	chr5:45395711-45395712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561539237	chr5:45395723-45395724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377639155	chr5:45395767-45395768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188798817	chr5:45395793-45395794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375314640	chr5:45395832-45395833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530184626	chr5:45395848-45395849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143923030	chr5:45395861-45395862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567041097	chr5:45395899-45395900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141208598	chr5:45395901-45395902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552153098	chr5:45395904-45395905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546112487	chr5:45395924-45395925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368387400	chr5:45395929-45395930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528482531	chr5:45395930-45395931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568219369	chr5:45395936-45395937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537959503	chr5:45395937-45395938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199986778	chr5:45395949-45395950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374518709	chr5:45395951-45395952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560499297	chr5:45395952-45395953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554598753	chr5:45395965-45395966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113037692	chr5:45395976-45395977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569417197	chr5:45395980-45395981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372081260	chr5:45395990-45395991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375410419	chr5:45396002-45396003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567476544	chr5:45396091-45396092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527681160	chr5:45396106-45396107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74757850	chr5:45396139-45396140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570825686	chr5:45396180-45396181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78172730	chr5:45396181-45396182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146353595	chr5:45396254-45396255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148563098	chr5:45396262-45396263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs118068123	chr5:45396266-45396267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:45395200-45396600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:45396600-45396800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:45396800-45399400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:45398200-45403000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:45398600-45399600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:45399200-45399400	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:45399200-45399400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:45399200-45399400	Enhancers	Pancreas	Pancrea
9	chr5:45399400-45403000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:45402800-45403800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:45403000-45403400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:45403000-45403800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:45403000-45403800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:45403200-45403600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:45403200-45403800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr5:45403200-45403800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:45403200-45403800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:45403200-45403800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:45403200-45404200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:45403400-45404200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:45403600-45404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:45403800-45405600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:45403800-45410600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:45404000-45404200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:45404200-45419200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:45407600-45410800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:45410200-45411400	Enhancers	Fetal Heart	heart
28	chr5:45410400-45412600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:45410600-45411000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:45410800-45411000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr5:45410800-45411200	Enhancers	Hela-S3	cervix
32	chr5:45411000-45411200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:45411000-45411600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr5:45411000-45412000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:45411200-45411400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:45411200-45411600	Weak transcription	Hela-S3	cervix
37	chr5:45411600-45412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr5:45411600-45412800	Enhancers	Hela-S3	cervix
39	chr5:45411800-45412600	Enhancers	Fetal Intestine Small	intestine
40	chr5:45412000-45412600	Enhancers	HUVEC	blood vessel
41	chr5:45412000-45412800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr5:45412000-45412800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr5:45412000-45412800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr5:45412000-45413000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr5:45412400-45413000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:45412400-45413000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:45412600-45414200	Weak transcription	Fetal Intestine Small	intestine
48	chr5:45412600-45415400	Weak transcription	Pancreas	Pancrea
49	chr5:45412800-45413000	Enhancers	Fetal Intestine Large	intestine
50	chr5:45412800-45416800	Weak transcription	Hela-S3	cervix

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