Variant report

Variant	esv3404387
Chromosome Location	chr16:82156351-82161049
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	ATF1	chr16:82159991-82160001	K562	blood:	n/a	n/a
2	CTCF	chr16:82160178-82160210	GM20000	blood:	n/a	n/a
3	CTCF	chr16:82159907-82159976	GM20000	blood:	n/a	n/a
4	GATA3	chr16:82158222-82158646	T-47D	breast:	n/a	n/a
5	GATA3	chr16:82158272-82158644	T-47D	breast:	n/a	n/a
6	POLR2A	chr16:82160134-82160191	Gliobla	brain:	n/a	n/a
7	ZNF384	chr16:82157120-82157129	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82153037..82154968-chr16:82160886..82163230,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260161	TF binding region

Extended variants
information (count: 319 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190640878	chr16:82157048-82157049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373763380	chr16:82157080-82157081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146438701	chr16:82157093-82157094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555280209	chr16:82157094-82157095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563943438	chr16:82157114-82157115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573556989	chr16:82157117-82157118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375143957	chr16:82157149-82157150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537450134	chr16:82157156-82157157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141416656	chr16:82157167-82157168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556097891	chr16:82157168-82157169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376075286	chr16:82157194-82157195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34367219	chr16:82157210-82157211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199529076	chr16:82157211-82157212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200952800	chr16:82157212-82157213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201759608	chr16:82157213-82157214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199580266	chr16:82157214-82157215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386793028	chr16:82157220-82157221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9926578	chr16:82157222-82157223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs145140385	chr16:82157243-82157244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113564027	chr16:82157265-82157266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180697659	chr16:82157268-82157269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552049531	chr16:82157290-82157291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9935925	chr16:82157308-82157309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs67948748	chr16:82157318-82157319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12927920	chr16:82157319-82157320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562934509	chr16:82157336-82157337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139016537	chr16:82157341-82157342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551895591	chr16:82157347-82157348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67371587	chr16:82157377-82157378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67371586	chr16:82157388-82157389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12928083	chr16:82157395-82157396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140578101	chr16:82157399-82157400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533745504	chr16:82157419-82157420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186035288	chr16:82157435-82157436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12931886	chr16:82157441-82157442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs189360403	chr16:82157469-82157470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556172139	chr16:82157488-82157489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117292733	chr16:82157521-82157522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62044181	chr16:82157525-82157526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140534574	chr16:82157527-82157528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369903413	chr16:82157529-82157530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113749836	chr16:82157531-82157532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12597134	chr16:82157535-82157536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12597638	chr16:82157538-82157539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562228212	chr16:82157565-82157566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539383507	chr16:82157572-82157573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574268366	chr16:82157573-82157574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112986011	chr16:82157602-82157603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573555062	chr16:82157612-82157613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544916298	chr16:82157620-82157621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82159800-82161000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr16:82160000-82160200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:82160000-82161000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr16:82160200-82160600	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr16:82160200-82160800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr16:82160200-82160800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr16:82160200-82160800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr16:82160200-82161000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:82160200-82172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:82160400-82160800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr16:82160600-82160800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr16:82160600-82161000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr16:82160800-82170600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr16:82160800-82171600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:82160800-82171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:82160800-82172200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr16:82160800-82172200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:82161000-82161200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr16:82161000-82172000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:82161000-82172000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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