Variant report

Variant	nsv1058135
Chromosome Location	chr16:80941603-80954876
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	chr16:80943433..80946323-chr16:80947532..80951132,3	K562	blood:
3	chr15:52970973..52971687-chr16:80951115..80952002,2	MCF-7	breast:
4	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
5	chr16:80909329..80911458-chr16:80945639..80947612,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047346	chromatin interactions

Extended variants
information (count: 741 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:741 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7197199	chr16:80941603-80941604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575366866	chr16:80941622-80941623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184807119	chr16:80941624-80941625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140915454	chr16:80941678-80941679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143060981	chr16:80941694-80941695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576540108	chr16:80941696-80941697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78336515	chr16:80941704-80941705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370287766	chr16:80941705-80941706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368496240	chr16:80941737-80941738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148356886	chr16:80941756-80941757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544128760	chr16:80941760-80941761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540214073	chr16:80941799-80941800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72811848	chr16:80941804-80941805	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs529212338	chr16:80941833-80941834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376003250	chr16:80941838-80941839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141510665	chr16:80941887-80941888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150914608	chr16:80941890-80941891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530701444	chr16:80941899-80941900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552099896	chr16:80941922-80941923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs386792813	chr16:80941928-80941929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2121	chr16:80941930-80941931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376041549	chr16:80941932-80941933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9938262	chr16:80941938-80941939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565776597	chr16:80942015-80942016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35815041	chr16:80942034-80942035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536259774	chr16:80942035-80942036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190732476	chr16:80942043-80942044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576482554	chr16:80942047-80942048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369261943	chr16:80942055-80942056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537618441	chr16:80942061-80942062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550933521	chr16:80942091-80942092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143887339	chr16:80942152-80942153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73580782	chr16:80942168-80942169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs559891281	chr16:80942199-80942200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79388403	chr16:80942213-80942214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147246943	chr16:80942214-80942215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563359511	chr16:80942241-80942242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530551577	chr16:80942291-80942292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552325863	chr16:80942299-80942300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563984234	chr16:80942303-80942304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193038813	chr16:80942318-80942319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185322334	chr16:80942323-80942324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568017304	chr16:80942351-80942352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80285404	chr16:80942370-80942371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548309066	chr16:80942371-80942372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140675015	chr16:80942373-80942374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537178582	chr16:80942375-80942376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559194373	chr16:80942410-80942411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571099728	chr16:80942423-80942424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535244637	chr16:80942450-80942451	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:56 , 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	chr16:80937800-80943200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr16:80940600-80942000	Enhancers	HepG2	liver
5	chr16:80941200-80943800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr16:80942000-80943600	Weak transcription	HepG2	liver
7	chr16:80943200-80944400	Enhancers	Fetal Intestine Large	intestine
8	chr16:80943200-80944600	Enhancers	Adipose Nuclei	Adipose
9	chr16:80943200-80944600	Enhancers	Fetal Intestine Small	intestine
10	chr16:80943200-80945000	Enhancers	Duodenum Mucosa	Duodenum
11	chr16:80943400-80944800	Enhancers	Hela-S3	cervix
12	chr16:80943600-80944000	Enhancers	HepG2	liver
13	chr16:80943600-80944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr16:80943800-80944200	Enhancers	Small Intestine	intestine
15	chr16:80943800-80944800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:80944000-80944600	Flanking Active TSS	HepG2	liver
17	chr16:80944200-80944800	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr16:80944400-80944800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr16:80944600-80945200	Enhancers	HepG2	liver
20	chr16:80944800-80945800	Weak transcription	Hela-S3	cervix
21	chr16:80945000-80946000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr16:80945200-80945600	Weak transcription	HepG2	liver
23	chr16:80945600-80947200	Enhancers	HepG2	liver
24	chr16:80945800-80946400	Enhancers	Hela-S3	cervix
25	chr16:80946000-80947000	Enhancers	Duodenum Mucosa	Duodenum
26	chr16:80946400-80946600	Flanking Active TSS	Hela-S3	cervix
27	chr16:80946600-80946800	Enhancers	Hela-S3	cervix
28	chr16:80946800-80947000	Flanking Active TSS	Hela-S3	cervix
29	chr16:80946800-80947200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr16:80947000-80947400	Enhancers	Hela-S3	cervix
31	chr16:80947200-80947600	ZNF genes & repeats	HepG2	liver
32	chr16:80947600-80948200	Enhancers	HepG2	liver
33	chr16:80948000-80950400	Enhancers	Hela-S3	cervix
34	chr16:80948200-80949000	Flanking Active TSS	HepG2	liver
35	chr16:80948200-80950000	Enhancers	Fetal Intestine Small	intestine
36	chr16:80948400-80949800	Enhancers	Stomach Mucosa	stomach
37	chr16:80948600-80949800	Enhancers	Fetal Intestine Large	intestine
38	chr16:80948600-80950000	Enhancers	Duodenum Mucosa	Duodenum
39	chr16:80948800-80949200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr16:80949000-80949400	Enhancers	HepG2	liver
41	chr16:80951600-80951800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr16:80951600-80951800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr16:80951600-80952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:80951600-80952000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:80951600-80952200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr16:80951600-80952600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr16:80951600-80952800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr16:80951600-80952800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr16:80951600-80952800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr16:80951800-80952400	Weak transcription	H9 Cell Line	embryonic stem cell

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