Variant report

Variant	nsv1065336
Chromosome Location	chr16:80938833-80954876
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	chr16:80909329..80911458-chr16:80945639..80947612,2	MCF-7	breast:
3	chr15:52970973..52971687-chr16:80951115..80952002,2	MCF-7	breast:
4	chr16:80943433..80946323-chr16:80947532..80951132,3	K562	blood:
5	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	chromatin interactions

Extended variants
information (count: 887 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:887 , 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	rs11150328	chr16:80938833-80938834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189838230	chr16:80938849-80938850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536858938	chr16:80938859-80938860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183536166	chr16:80938881-80938882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545863667	chr16:80938886-80938887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186387434	chr16:80938902-80938903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544083374	chr16:80938905-80938906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562775150	chr16:80938933-80938934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191700147	chr16:80938953-80938954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs55992474	chr16:80938966-80938967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576883531	chr16:80938997-80938998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528584021	chr16:80939018-80939019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547072915	chr16:80939022-80939023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34490941	chr16:80939058-80939059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116367200	chr16:80939104-80939105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115694026	chr16:80939159-80939160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148198738	chr16:80939165-80939166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117178433	chr16:80939178-80939179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141505195	chr16:80939182-80939183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145383055	chr16:80939198-80939199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572546838	chr16:80939207-80939208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137931369	chr16:80939208-80939209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7201381	chr16:80939237-80939238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573425290	chr16:80939266-80939267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558897765	chr16:80939288-80939289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143003677	chr16:80939304-80939305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544364037	chr16:80939305-80939306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562577968	chr16:80939311-80939312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533249978	chr16:80939351-80939352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572548430	chr16:80939401-80939402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541314816	chr16:80939414-80939415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560467501	chr16:80939438-80939439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528446385	chr16:80939459-80939460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547036862	chr16:80939479-80939480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568531567	chr16:80939487-80939488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529402090	chr16:80939491-80939492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551132564	chr16:80939495-80939496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569397480	chr16:80939531-80939532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561431988	chr16:80939543-80939544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540118683	chr16:80939549-80939550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558128440	chr16:80939555-80939556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183758707	chr16:80939560-80939561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150667584	chr16:80939561-80939562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139840565	chr16:80939588-80939589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554960971	chr16:80939602-80939603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149435136	chr16:80939628-80939629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144825129	chr16:80939650-80939651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77784696	chr16:80939662-80939663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577722575	chr16:80939666-80939667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs16954266	chr16:80939690-80939691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:60 , 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	chr16:80937200-80939200	Enhancers	HepG2	liver
4	chr16:80937800-80940800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr16:80937800-80943200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr16:80939200-80940600	Weak transcription	HepG2	liver
7	chr16:80940600-80942000	Enhancers	HepG2	liver
8	chr16:80940800-80941200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr16:80941200-80943800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:80942000-80943600	Weak transcription	HepG2	liver
11	chr16:80943200-80944400	Enhancers	Fetal Intestine Large	intestine
12	chr16:80943200-80944600	Enhancers	Adipose Nuclei	Adipose
13	chr16:80943200-80944600	Enhancers	Fetal Intestine Small	intestine
14	chr16:80943200-80945000	Enhancers	Duodenum Mucosa	Duodenum
15	chr16:80943400-80944800	Enhancers	Hela-S3	cervix
16	chr16:80943600-80944000	Enhancers	HepG2	liver
17	chr16:80943600-80944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:80943800-80944200	Enhancers	Small Intestine	intestine
19	chr16:80943800-80944800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr16:80944000-80944600	Flanking Active TSS	HepG2	liver
21	chr16:80944200-80944800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr16:80944400-80944800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr16:80944600-80945200	Enhancers	HepG2	liver
24	chr16:80944800-80945800	Weak transcription	Hela-S3	cervix
25	chr16:80945000-80946000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr16:80945200-80945600	Weak transcription	HepG2	liver
27	chr16:80945600-80947200	Enhancers	HepG2	liver
28	chr16:80945800-80946400	Enhancers	Hela-S3	cervix
29	chr16:80946000-80947000	Enhancers	Duodenum Mucosa	Duodenum
30	chr16:80946400-80946600	Flanking Active TSS	Hela-S3	cervix
31	chr16:80946600-80946800	Enhancers	Hela-S3	cervix
32	chr16:80946800-80947000	Flanking Active TSS	Hela-S3	cervix
33	chr16:80946800-80947200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr16:80947000-80947400	Enhancers	Hela-S3	cervix
35	chr16:80947200-80947600	ZNF genes & repeats	HepG2	liver
36	chr16:80947600-80948200	Enhancers	HepG2	liver
37	chr16:80948000-80950400	Enhancers	Hela-S3	cervix
38	chr16:80948200-80949000	Flanking Active TSS	HepG2	liver
39	chr16:80948200-80950000	Enhancers	Fetal Intestine Small	intestine
40	chr16:80948400-80949800	Enhancers	Stomach Mucosa	stomach
41	chr16:80948600-80949800	Enhancers	Fetal Intestine Large	intestine
42	chr16:80948600-80950000	Enhancers	Duodenum Mucosa	Duodenum
43	chr16:80948800-80949200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr16:80949000-80949400	Enhancers	HepG2	liver
45	chr16:80951600-80951800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr16:80951600-80951800	Enhancers	H9 Cell Line	embryonic stem cell
47	chr16:80951600-80952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:80951600-80952000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:80951600-80952200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr16:80951600-80952600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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