Variant report

Variant	nsv1026307
Chromosome Location	chr5:106117456-106141417
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106131520..106133910-chr5:106135475..106137782,2	MCF-7	breast:
2	chr5:106113493..106115491-chr5:106132534..106134120,2	MCF-7	breast:
3	chr5:106131520..106133910-chr5:106135475..106137782,2	MCF-7	breast:

Extended variants
information (count: 251 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147875089	chr5:106122415-106122416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547124330	chr5:106122480-106122481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566958634	chr5:106122496-106122497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190451071	chr5:106122523-106122524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552472061	chr5:106122526-106122527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569566352	chr5:106122538-106122539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139819147	chr5:106122548-106122549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181623507	chr5:106122550-106122551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1370754	chr5:106122566-106122567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs186323879	chr5:106122569-106122570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369022482	chr5:106122570-106122571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547744630	chr5:106122592-106122593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191117693	chr5:106122673-106122674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576510750	chr5:106122687-106122688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10043541	chr5:106122706-106122707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556098863	chr5:106122730-106122731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182471209	chr5:106122769-106122770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541758704	chr5:106122785-106122786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556295992	chr5:106122801-106122802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75684072	chr5:106122829-106122830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145354104	chr5:106122846-106122847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536721218	chr5:106122850-106122851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540627362	chr5:106122867-106122868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17159084	chr5:106122868-106122869	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs532634739	chr5:106122870-106122871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80157295	chr5:106122929-106122930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs570941775	chr5:106122985-106122986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569356022	chr5:106123021-106123022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112020625	chr5:106123047-106123048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1438254	chr5:106123058-106123059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548641461	chr5:106123104-106123105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73200384	chr5:106123230-106123231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1438255	chr5:106123252-106123253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs575035434	chr5:106123260-106123261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147840983	chr5:106123266-106123267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570081782	chr5:106123271-106123272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17159092	chr5:106123279-106123280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556175285	chr5:106123297-106123298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536170308	chr5:106123316-106123317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs187993222	chr5:106123326-106123327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541994891	chr5:106123373-106123374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141502450	chr5:106131806-106131807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534920087	chr5:106131848-106131849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539702272	chr5:106131868-106131869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146637341	chr5:106131884-106131885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs193127791	chr5:106131893-106131894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74522098	chr5:106131900-106131901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs73200401	chr5:106132005-106132006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574034747	chr5:106132011-106132012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182237110	chr5:106132029-106132030	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106122400-106123200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr5:106122600-106123000	Enhancers	H9 Cell Line	embryonic stem cell
3	chr5:106122600-106123400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr5:106131800-106132200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:106131800-106132200	Enhancers	Fetal Lung	lung
6	chr5:106133200-106134200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:106133400-106133600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:106133400-106134200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:106133400-106134200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr5:106133400-106134200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:106134200-106134400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:106134200-106135800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:106134200-106136200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:106135000-106135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:106135200-106135800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:106135800-106136400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:106135800-106137800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr5:106136200-106136400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:106136200-106137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:106136400-106137800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:106136600-106138200	Enhancers	Dnd41	blood
22	chr5:106136800-106137400	Enhancers	Primary hematopoietic stem cells	blood
23	chr5:106137000-106137200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:106137200-106137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:106137400-106137600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:106137400-106137800	Enhancers	Primary T cells from cord blood	blood
27	chr5:106137600-106138200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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