Variant report

Variant	nsv1025880
Chromosome Location	chr5:46000763-46389261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175202235..175203755-chr5:46204424..46205944,2	MCF-7	breast:
2	chr4:68265057..68265577-chr5:46205420..46205943,2	MCF-7	breast:
3	chr1:63102529..63105125-chr5:46100658..46103318,2	MCF-7	breast:
4	chr1:121483702..121485225-chr5:46334811..46336331,2	MCF-7	breast:
5	chr17:57915525..57918399-chr5:46361638..46364174,2	MCF-7	breast:

Extended variants
information (count: 26360 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:26360 , 50 per page) page: 1 2 3 4 5 6 7 ... 528

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78069841	chr5:46010202-46010203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561032039	chr5:46010206-46010207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs35995996	chr5:46010226-46010227	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs73105627	chr5:46010292-46010293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75563009	chr5:46010309-46010310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs116647766	chr5:46010378-46010379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs75154067	chr5:46010379-46010380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs149040135	chr5:46010385-46010386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs367570264	chr5:46010387-46010388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs575310955	chr5:46010395-46010396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs569185395	chr5:46010399-46010400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538082486	chr5:46010412-46010413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs548388695	chr5:46010413-46010414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372927873	chr5:46010436-46010437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs143183438	chr5:46010467-46010468	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs534029200	chr5:46010485-46010486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs553931829	chr5:46010501-46010502	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577205328	chr5:46010514-46010515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs189840235	chr5:46010516-46010517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182452973	chr5:46010518-46010519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575628478	chr5:46010523-46010524	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7293360	chr5:46010532-46010533	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs376605348	chr5:46010549-46010550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs561067350	chr5:46010565-46010566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs187725944	chr5:46010567-46010568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540364918	chr5:46010582-46010583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559988491	chr5:46010603-46010604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs542229117	chr5:46010612-46010613	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs563024515	chr5:46010659-46010660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs560940969	chr5:46010664-46010665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532160947	chr5:46010674-46010675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs528333881	chr5:46010700-46010701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551870358	chr5:46010704-46010705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs186407726	chr5:46010732-46010733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562108625	chr5:46010741-46010742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs531902925	chr5:46010770-46010771	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs576642851	chr5:46010777-46010778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs546529402	chr5:46010784-46010785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568322540	chr5:46010792-46010793	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs534119448	chr5:46010793-46010794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs573477072	chr5:46010842-46010843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs76819763	chr5:46010845-46010846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs547900895	chr5:46010852-46010853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs570843780	chr5:46010860-46010861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs539889744	chr5:46010876-46010877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs111278960	chr5:46010881-46010882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs75267484	chr5:46010889-46010890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs564733884	chr5:46010911-46010912	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368668233	chr5:46010912-46010913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191982814	chr5:46010942-46010943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
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
Melanoma	18172304	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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cervical squamous cell carcinoma	21590768	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	20967226	CNVD
Medulloblastoma	21163964	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46010200-46013000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr5:46010600-46014400	ZNF genes & repeats	Liver	Liver
3	chr5:46011800-46016800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:46014000-46019000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr5:46016600-46020200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr5:46017400-46018800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr5:46018000-46028600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:46018200-46021800	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr5:46019000-46022600	ZNF genes & repeats	Liver	Liver
10	chr5:46021600-46022000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:46022600-46024000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
12	chr5:46027600-46028000	Active TSS	Fetal Heart	heart
13	chr5:46030000-46030600	Active TSS	Fetal Heart	heart
14	chr5:46033200-46038200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:46033800-46034600	ZNF genes & repeats	Liver	Liver
16	chr5:46035200-46036000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr5:46039000-46039800	ZNF genes & repeats	Liver	Liver
18	chr5:46041000-46045400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:46042000-46043400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr5:46042800-46043800	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr5:46048800-46067200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:46050000-46062400	ZNF genes & repeats	Liver	Liver
23	chr5:46050800-46056000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr5:46053000-46053600	Active TSS	Right Atrium	heart
25	chr5:46058800-46064400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr5:46061200-46064200	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr5:46066200-46067200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
28	chr5:46067800-46073000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr5:46068400-46069600	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr5:46068400-46069800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr5:46071000-46082400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:46071600-46075400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr5:46073400-46075800	ZNF genes & repeats	Liver	Liver
34	chr5:46075600-46077000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:46077000-46079800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
36	chr5:46081600-46082600	Active TSS	Fetal Heart	heart
37	chr5:46083400-46093800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:46083600-46093600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr5:46083800-46084600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr5:46084000-46085200	ZNF genes & repeats	Adipose Nuclei	Adipose
41	chr5:46089200-46090400	Active TSS	Aorta	Aorta
42	chr5:46090600-46093600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr5:46091200-46093400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr5:46093800-46096600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr5:46099600-46101800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:46109600-46110000	Active TSS	Fetal Heart	heart
47	chr5:46113800-46114400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr5:46116400-46118000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr5:46118800-46127400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:46120200-46123000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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