Variant report

Variant	nsv969221
Chromosome Location	chr5:49777725-49835177
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	chr5:49735570..49738704-chr5:49819935..49822931,3	MCF-7	breast:
2	chr5:49736586..49738408-chr5:49799172..49801392,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170571	chromatin interactions

Extended variants
information (count: 593 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4618397	chr5:49784606-49784607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs186785026	chr5:49784609-49784610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6878982	chr5:49784611-49784612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191305912	chr5:49784638-49784639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6886802	chr5:49784648-49784649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs564795417	chr5:49784675-49784676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555704035	chr5:49784677-49784678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184524930	chr5:49784683-49784684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377216672	chr5:49784698-49784699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541666836	chr5:49784718-49784719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs13183983	chr5:49784779-49784780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190722709	chr5:49784801-49784802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13171730	chr5:49784811-49784812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13183995	chr5:49784812-49784813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577860629	chr5:49784818-49784819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543597705	chr5:49784819-49784820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181516761	chr5:49784820-49784821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528957189	chr5:49784834-49784835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6450155	chr5:49784835-49784836	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528379299	chr5:49784849-49784850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551748974	chr5:49784857-49784858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185420561	chr5:49784865-49784866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537277345	chr5:49784869-49784870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550772699	chr5:49784872-49784873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570073179	chr5:49784882-49784883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189487474	chr5:49784887-49784888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555486425	chr5:49784888-49784889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550388299	chr5:49784890-49784891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372000503	chr5:49784898-49784899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs60228065	chr5:49784931-49784932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377068390	chr5:49784947-49784948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558068520	chr5:49785006-49785007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577898254	chr5:49785049-49785050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs13184498	chr5:49785090-49785091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs567021147	chr5:49785096-49785097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557099550	chr5:49785100-49785101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573666732	chr5:49785102-49785103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181431679	chr5:49785121-49785122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138949702	chr5:49785129-49785130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376272684	chr5:49785147-49785148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545005167	chr5:49785153-49785154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185277474	chr5:49785166-49785167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530797950	chr5:49785172-49785173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189690571	chr5:49785199-49785200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs180901351	chr5:49785200-49785201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187089234	chr5:49785205-49785206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192365701	chr5:49785206-49785207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183373563	chr5:49785216-49785217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534729561	chr5:49785230-49785231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13184661	chr5:49785240-49785241	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

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	19212409	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49784600-49784800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr5:49784800-49785400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr5:49785000-49786400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr5:49785200-49785800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr5:49785200-49785800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:49785200-49786400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:49785400-49785800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:49785400-49786200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:49785400-49786200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:49785400-49786400	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr5:49785400-49786400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr5:49796600-49797600	Enhancers	Dnd41	blood
13	chr5:49796600-49798000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:49796600-49798400	Enhancers	Primary T cells from cord blood	blood
15	chr5:49796800-49797200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:49796800-49797400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:49797000-49797400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr5:49797000-49797600	Enhancers	Primary B cells from cord blood	blood
19	chr5:49797000-49798000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:49797000-49798000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:49797000-49798000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:49797000-49798000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:49797000-49798200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr5:49797000-49798400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr5:49797200-49797400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:49797200-49797800	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr5:49797400-49797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:49797400-49797600	Enhancers	GM12878-XiMat	blood
29	chr5:49797400-49797800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:49797400-49797800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:49797400-49798000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr5:49797400-49798000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr5:49797400-49798000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr5:49797400-49798000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:49797400-49798000	Enhancers	Duodenum Mucosa	Duodenum
36	chr5:49797600-49798000	Enhancers	Primary B cells from peripheral blood	blood
37	chr5:49797600-49798000	Enhancers	Primary hematopoietic stem cells	blood
38	chr5:49797600-49798000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr5:49797600-49798000	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr5:49797600-49798000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:49797600-49798000	Flanking Active TSS	Dnd41	blood
42	chr5:49797600-49798000	Flanking Active TSS	GM12878-XiMat	blood
43	chr5:49797600-49798200	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr5:49797600-49798800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr5:49797800-49798000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr5:49797800-49798200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr5:49798000-49798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:49798000-49798200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:49798000-49798600	Enhancers	Dnd41	blood
50	chr5:49798200-49798600	Enhancers	Primary B cells from cord blood	blood

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