Variant report

Variant	nsv964849
Chromosome Location	chr5:49797383-49822428
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	chr5:49736586..49738408-chr5:49799172..49801392,2	MCF-7	breast:
2	chr5:49735570..49738704-chr5:49819935..49822931,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170571	chromatin interactions

Extended variants
information (count: 380 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:380 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546532605	chr5:49797405-49797406	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs566659711	chr5:49797457-49797458	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs186269220	chr5:49797540-49797541	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs150456951	chr5:49797552-49797553	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7706105	chr5:49797579-49797580	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs71631474	chr5:49797595-49797596	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557056317	chr5:49797653-49797654	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190995526	chr5:49797654-49797655	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs542665158	chr5:49797662-49797663	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113082009	chr5:49797778-49797779	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559744352	chr5:49797792-49797793	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10052791	chr5:49797799-49797800	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs72751743	chr5:49797806-49797807	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545718098	chr5:49797809-49797810	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75826306	chr5:49797811-49797812	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369856679	chr5:49797823-49797824	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs565554433	chr5:49797830-49797831	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs552348777	chr5:49797835-49797836	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112188705	chr5:49797886-49797887	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370434120	chr5:49797906-49797907	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs201644406	chr5:49797907-49797908	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs531148627	chr5:49797915-49797916	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35541611	chr5:49797933-49797934	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs560971340	chr5:49797968-49797969	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs183246716	chr5:49798025-49798026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546377134	chr5:49798125-49798126	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs11948302	chr5:49798151-49798152	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs138299032	chr5:49798188-49798189	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs560645058	chr5:49798206-49798207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552082031	chr5:49798213-49798214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372865931	chr5:49798294-49798295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375719538	chr5:49798316-49798317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10940334	chr5:49798389-49798390	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs537666348	chr5:49798397-49798398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115548086	chr5:49798398-49798399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568158462	chr5:49798424-49798425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10940335	chr5:49798429-49798430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs187906824	chr5:49798443-49798444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs573215811	chr5:49798465-49798466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114746529	chr5:49798490-49798491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190528028	chr5:49798529-49798530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550997241	chr5:49798552-49798553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562736284	chr5:49798563-49798564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530426084	chr5:49798574-49798575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6450164	chr5:49798648-49798649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs544820007	chr5:49798662-49798663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573503432	chr5:49798666-49798667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183737403	chr5:49798667-49798668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372726082	chr5:49798676-49798677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530225663	chr5:49798690-49798691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49796600-49797600	Enhancers	Dnd41	blood
2	chr5:49796600-49798000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:49796600-49798400	Enhancers	Primary T cells from cord blood	blood
4	chr5:49796800-49797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:49797000-49797400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr5:49797000-49797600	Enhancers	Primary B cells from cord blood	blood
7	chr5:49797000-49798000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr5:49797000-49798000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:49797000-49798000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr5:49797000-49798000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:49797000-49798200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:49797000-49798400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:49797200-49797400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:49797200-49797800	Active TSS	Monocytes-CD14+_RO01746	blood
15	chr5:49797400-49797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:49797400-49797600	Enhancers	GM12878-XiMat	blood
17	chr5:49797400-49797800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:49797400-49797800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr5:49797400-49798000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr5:49797400-49798000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr5:49797400-49798000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr5:49797400-49798000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:49797400-49798000	Enhancers	Duodenum Mucosa	Duodenum
24	chr5:49797600-49798000	Enhancers	Primary B cells from peripheral blood	blood
25	chr5:49797600-49798000	Enhancers	Primary hematopoietic stem cells	blood
26	chr5:49797600-49798000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr5:49797600-49798000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr5:49797600-49798000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:49797600-49798000	Flanking Active TSS	Dnd41	blood
30	chr5:49797600-49798000	Flanking Active TSS	GM12878-XiMat	blood
31	chr5:49797600-49798200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr5:49797600-49798800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr5:49797800-49798000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr5:49797800-49798200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr5:49798000-49798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:49798000-49798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:49798000-49798600	Enhancers	Dnd41	blood
38	chr5:49798200-49798600	Enhancers	Primary B cells from cord blood	blood
39	chr5:49798200-49798800	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr5:49798600-49800800	Weak transcription	Dnd41	blood
41	chr5:49798800-49800200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr5:49798800-49800800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:49800200-49801400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr5:49800800-49801400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr5:49800800-49802200	Enhancers	Dnd41	blood
46	chr5:49808200-49808800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:49808200-49808800	Enhancers	Primary T cells from cord blood	blood
48	chr5:49808200-49808800	Enhancers	Dnd41	blood
49	chr5:49808400-49808800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr5:49808400-49808800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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