Variant report

Variant	nsv974832
Chromosome Location	chr16:73971358-73975976
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	CEBPB	chr16:73975389-73975527	IMR90	lung:	n/a	n/a
2	CEBPB	chr16:73975291-73975555	HepG2	liver:	n/a	n/a
3	MAX	chr16:73971874-73971996	NB4	blood:	n/a	n/a
4	MYC	chr16:73974848-73974962	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:73971612-73971717	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr16:73973584-73973659	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:73971613..73973704-chr17:56708903..56711422,2	MCF-7	breast:

Variant related genes	Relation type
RPSAP56	TF binding region
ENSG00000212195	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568995873	chr16:73971617-73971618	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs562031714	chr16:73971624-73971625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147638922	chr16:73971708-73971709	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376798285	chr16:73971717-73971718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572871050	chr16:73971718-73971719	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs371266224	chr16:73971775-73971776	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201454590	chr16:73971791-73971792	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183066266	chr16:73971816-73971817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553635489	chr16:73971858-73971859	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs376662944	chr16:73971869-73971870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115572212	chr16:73971889-73971890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549788975	chr16:73971896-73971897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369929428	chr16:73971920-73971921	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs377434212	chr16:73971927-73971928	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187441585	chr16:73971939-73971940	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575370216	chr16:73971960-73971961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542692834	chr16:73971962-73971963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560995349	chr16:73971966-73971967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142377657	chr16:73971969-73971970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546638458	chr16:73972000-73972001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113164395	chr16:73972011-73972012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs558487475	chr16:73972036-73972037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371064675	chr16:73972037-73972038	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570273698	chr16:73972039-73972040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191933314	chr16:73972050-73972051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs550768101	chr16:73972067-73972068	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs386792082	chr16:73972169-73972170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147913384	chr16:73972196-73972197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368661625	chr16:73972207-73972208	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs76358706	chr16:73972210-73972211	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76117272	chr16:73972212-73972213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552289139	chr16:73972213-73972214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183417010	chr16:73972222-73972223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs117709863	chr16:73972223-73972224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187905429	chr16:73972250-73972251	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs578207313	chr16:73972253-73972254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538946823	chr16:73972256-73972257	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs557162715	chr16:73972293-73972294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs575431155	chr16:73972299-73972300	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs542756096	chr16:73972309-73972310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140507404	chr16:73972312-73972313	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573210911	chr16:73972330-73972331	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192813183	chr16:73972341-73972342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540644163	chr16:73972402-73972403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565100758	chr16:73972465-73972466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs532473039	chr16:73972483-73972484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550890503	chr16:73972489-73972490	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370894186	chr16:73972507-73972508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562712090	chr16:73972509-73972510	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529923022	chr16:73972513-73972514	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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