Variant report

Variant	nsv1063397
Chromosome Location	chr16:80939690-80955393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80943433..80946323-chr16:80947532..80951132,3	K562	blood:
2	chr16:80943433..80946323-chr16:80947532..80951132,3	K562	blood:
3	chr16:80955353..80957123-chr16:80962871..80964572,2	K562	blood:
4	chr16:80909329..80911458-chr16:80945639..80947612,2	MCF-7	breast:
5	chr15:52970973..52971687-chr16:80951115..80952002,2	MCF-7	breast:
6	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	chromatin interactions

Extended variants
information (count: 869 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16954266	chr16:80939690-80939691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76288248	chr16:80939705-80939706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572385239	chr16:80939710-80939711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188227269	chr16:80939807-80939808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4889221	chr16:80939848-80939849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529386600	chr16:80939857-80939858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550836411	chr16:80939862-80939863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532630508	chr16:80939867-80939868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563009713	chr16:80939872-80939873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13335008	chr16:80939894-80939895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs551582224	chr16:80939904-80939905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566790971	chr16:80939923-80939924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74028849	chr16:80939924-80939925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548550375	chr16:80939926-80939927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145343018	chr16:80939952-80939953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560742008	chr16:80939958-80939959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13331603	chr16:80939981-80939982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555937309	chr16:80939990-80939991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75953437	chr16:80939995-80939996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377702644	chr16:80939996-80939997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554042517	chr16:80940001-80940002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4889222	chr16:80940007-80940008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs542990705	chr16:80940012-80940013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375483065	chr16:80940028-80940029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562054896	chr16:80940029-80940030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140817255	chr16:80940030-80940031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372855389	chr16:80940034-80940035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192926290	chr16:80940052-80940053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562816170	chr16:80940115-80940116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528506212	chr16:80940139-80940140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533484492	chr16:80940161-80940162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551547670	chr16:80940176-80940177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560345157	chr16:80940192-80940193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142303392	chr16:80940213-80940214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151012633	chr16:80940223-80940224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200924639	chr16:80940224-80940225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55913668	chr16:80940269-80940270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567950336	chr16:80940296-80940297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537412665	chr16:80940304-80940305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549764349	chr16:80940320-80940321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150987426	chr16:80940324-80940325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538765855	chr16:80940337-80940338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554005766	chr16:80940365-80940366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564064539	chr16:80940459-80940460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565922981	chr16:80940464-80940465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536460114	chr16:80940472-80940473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182367918	chr16:80940504-80940505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75801312	chr16:80940507-80940508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528052453	chr16:80940521-80940522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556557913	chr16:80940531-80940532	Weak transcription	n/a	n/a	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80935000-80948400	Weak transcription	Stomach Mucosa	stomach
2	chr16:80935600-80943400	Weak transcription	Hela-S3	cervix
3	chr16:80937800-80940800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr16:80937800-80943200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr16:80939200-80940600	Weak transcription	HepG2	liver
6	chr16:80940600-80942000	Enhancers	HepG2	liver
7	chr16:80940800-80941200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr16:80941200-80943800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr16:80942000-80943600	Weak transcription	HepG2	liver
10	chr16:80943200-80944400	Enhancers	Fetal Intestine Large	intestine
11	chr16:80943200-80944600	Enhancers	Adipose Nuclei	Adipose
12	chr16:80943200-80944600	Enhancers	Fetal Intestine Small	intestine
13	chr16:80943200-80945000	Enhancers	Duodenum Mucosa	Duodenum
14	chr16:80943400-80944800	Enhancers	Hela-S3	cervix
15	chr16:80943600-80944000	Enhancers	HepG2	liver
16	chr16:80943600-80944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:80943800-80944200	Enhancers	Small Intestine	intestine
18	chr16:80943800-80944800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:80944000-80944600	Flanking Active TSS	HepG2	liver
20	chr16:80944200-80944800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr16:80944400-80944800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr16:80944600-80945200	Enhancers	HepG2	liver
23	chr16:80944800-80945800	Weak transcription	Hela-S3	cervix
24	chr16:80945000-80946000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:80945200-80945600	Weak transcription	HepG2	liver
26	chr16:80945600-80947200	Enhancers	HepG2	liver
27	chr16:80945800-80946400	Enhancers	Hela-S3	cervix
28	chr16:80946000-80947000	Enhancers	Duodenum Mucosa	Duodenum
29	chr16:80946400-80946600	Flanking Active TSS	Hela-S3	cervix
30	chr16:80946600-80946800	Enhancers	Hela-S3	cervix
31	chr16:80946800-80947000	Flanking Active TSS	Hela-S3	cervix
32	chr16:80946800-80947200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr16:80947000-80947400	Enhancers	Hela-S3	cervix
34	chr16:80947200-80947600	ZNF genes & repeats	HepG2	liver
35	chr16:80947600-80948200	Enhancers	HepG2	liver
36	chr16:80948000-80950400	Enhancers	Hela-S3	cervix
37	chr16:80948200-80949000	Flanking Active TSS	HepG2	liver
38	chr16:80948200-80950000	Enhancers	Fetal Intestine Small	intestine
39	chr16:80948400-80949800	Enhancers	Stomach Mucosa	stomach
40	chr16:80948600-80949800	Enhancers	Fetal Intestine Large	intestine
41	chr16:80948600-80950000	Enhancers	Duodenum Mucosa	Duodenum
42	chr16:80948800-80949200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr16:80949000-80949400	Enhancers	HepG2	liver
44	chr16:80951600-80951800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr16:80951600-80951800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr16:80951600-80952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:80951600-80952000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr16:80951600-80952200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr16:80951600-80952600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr16:80951600-80952800	Enhancers	HUES48 Cell Line	embryonic stem cell

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