Variant report

Variant	nsv969046
Chromosome Location	chr5:49915707-49926436
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:49926200-49926215	GM20000	blood:	n/a	n/a
2	CTCF	chr5:49922742-49922790	GM10266	blood:	n/a	n/a
3	EP300	chr5:49918079-49918279	K562	blood:	n/a	chr5:49918159-49918173
4	FOS	chr5:49919598-49919900	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:49919589-49919898	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:49919596-49919900	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr5:49919597-49919900	MCF10A-Er-Src	breast:	n/a	n/a
8	GATA2	chr5:49917947-49918236	K562	blood:	n/a	chr5:49918151-49918161 chr5:49918145-49918166 chr5:49918152-49918161
9	RCOR1	chr5:49918002-49918367	K562	blood:	n/a	n/a
10	RCOR1	chr5:49917999-49918195	K562	blood:	n/a	n/a
11	SPI1	chr5:49918099-49918412	HL-60	blood:	n/a	chr5:49918176-49918189
12	SPI1	chr5:49918081-49918216	K562	blood:	n/a	chr5:49918176-49918189
13	TCF12	chr5:49923339-49923550	HepG2	liver:	n/a	n/a
14	TEAD4	chr5:49918018-49918284	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000213956	TF binding region

Extended variants
information (count: 84 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574721330	chr5:49915708-49915709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540412965	chr5:49915720-49915721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559857608	chr5:49915749-49915750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532075108	chr5:49915773-49915774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545787762	chr5:49915816-49915817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562304230	chr5:49915836-49915837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531649479	chr5:49915877-49915878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548155882	chr5:49915898-49915899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181868985	chr5:49915900-49915901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34426073	chr5:49915907-49915908	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs547602897	chr5:49915917-49915918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146471666	chr5:49915948-49915949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567015559	chr5:49915993-49915994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186507217	chr5:49916024-49916025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138376002	chr5:49916026-49916027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188738936	chr5:49916123-49916124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532212203	chr5:49916146-49916147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569132365	chr5:49916154-49916155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181218546	chr5:49916192-49916193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544418852	chr5:49916213-49916214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369554251	chr5:49916214-49916215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574783202	chr5:49916221-49916222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10041633	chr5:49916229-49916230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs148914660	chr5:49916236-49916237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143590713	chr5:49916309-49916310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545545249	chr5:49916327-49916328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562525206	chr5:49916357-49916358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530205636	chr5:49916388-49916389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542459321	chr5:49919418-49919419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552700285	chr5:49919419-49919420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34219853	chr5:49919420-49919421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138826662	chr5:49919422-49919423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549988959	chr5:49919423-49919424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181017538	chr5:49919445-49919446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187375072	chr5:49919447-49919448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543445715	chr5:49919482-49919483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564059348	chr5:49919493-49919494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529568517	chr5:49919504-49919505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549609029	chr5:49919529-49919530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191796925	chr5:49919540-49919541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73095056	chr5:49919577-49919578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551483059	chr5:49919593-49919594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6888147	chr5:49919619-49919620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs117300538	chr5:49919653-49919654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182425804	chr5:49919666-49919667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567226260	chr5:49919693-49919694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536097868	chr5:49919702-49919703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535611999	chr5:49919754-49919755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185955397	chr5:49919795-49919796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377201724	chr5:49925432-49925433	Enhancers	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49915600-49916400	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr5:49919400-49919800	Enhancers	Stomach Mucosa	stomach
3	chr5:49919600-49919800	Enhancers	Pancreas	Pancrea
4	chr5:49925400-49925600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr5:49925800-49927400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:49926400-49934200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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