Variant report

Variant	nsv882487
Chromosome Location	chr5:100623751-100673561
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
2	chr5:100663876..100666574-chr5:100667338..100670081,2	K562	blood:
3	chr5:100589934..100591509-chr5:100627853..100629653,2	MCF-7	breast:
4	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:
5	chr5:100633218..100635358-chr5:100640732..100642365,2	K562	blood:

Extended variants
information (count: 1121 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1121 , 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	rs527361789	chr5:100624822-100624823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545526956	chr5:100624835-100624836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563553038	chr5:100624837-100624838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6874981	chr5:100624888-100624889	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370550881	chr5:100625000-100625001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145761732	chr5:100625011-100625012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550949017	chr5:100625016-100625017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569545835	chr5:100625024-100625025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35358034	chr5:100625116-100625117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530369069	chr5:100625123-100625124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6874201	chr5:100625138-100625139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184613998	chr5:100625147-100625148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556837164	chr5:100625156-100625157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189892743	chr5:100625168-100625169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140714458	chr5:100625171-100625172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559110754	chr5:100625173-100625174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180696094	chr5:100625174-100625175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149074886	chr5:100625183-100625184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186285204	chr5:100625189-100625190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111815447	chr5:100625192-100625193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201171050	chr5:100625199-100625200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562047955	chr5:100627483-100627484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529390282	chr5:100627486-100627487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs115879197	chr5:100627507-100627508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550772166	chr5:100627594-100627595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565568318	chr5:100627667-100627668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568737497	chr5:100627709-100627710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539230873	chr5:100627710-100627711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112305245	chr5:100627741-100627742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533044785	chr5:100627751-100627752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62384881	chr5:100627763-100627764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149376625	chr5:100627774-100627775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551402857	chr5:100627784-100627785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569606650	chr5:100627786-100627787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536646795	chr5:100627844-100627845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191427593	chr5:100627846-100627847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369816868	chr5:100627862-100627863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534735574	chr5:100627868-100627869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74683235	chr5:100627875-100627876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572693761	chr5:100627940-100627941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573788887	chr5:100627947-100627948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376009603	chr5:100627955-100627956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564876316	chr5:100627964-100627965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546446835	chr5:100628018-100628019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79069817	chr5:100628080-100628081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79787701	chr5:100628092-100628093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182556368	chr5:100628106-100628107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116740327	chr5:100628193-100628194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373396248	chr5:100628207-100628208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs529328195	chr5:100628266-100628267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	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
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100624800-100625200	Enhancers	Hela-S3	cervix
2	chr5:100627400-100640200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:100628000-100629000	Enhancers	Dnd41	blood
4	chr5:100640200-100640600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:100640600-100641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:100641200-100641400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:100641200-100642000	Enhancers	A549	lung
8	chr5:100642000-100642200	Flanking Active TSS	A549	lung
9	chr5:100642200-100642600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:100642200-100642600	Active TSS	A549	lung
11	chr5:100642200-100642800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:100642600-100643000	Flanking Active TSS	A549	lung
13	chr5:100643000-100643600	Enhancers	A549	lung
14	chr5:100647400-100650800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:100647600-100648400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:100647600-100648400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:100650600-100651000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:100650800-100651000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:100651000-100652400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:100651000-100652800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:100652400-100653400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:100652800-100653200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:100653200-100656200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:100656200-100657000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:100656400-100657000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:100665200-100665800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:100666800-100667000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:100673000-100674200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:100673200-100674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:100673200-100674000	Enhancers	Fetal Lung	lung

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