Variant report

Variant	esv18761
Chromosome Location	chr16:81244593-81248668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81237375..81239298-chr16:81246693..81248653,2	K562	blood:
2	chr16:81242972..81244924-chr16:81246844..81249498,3	MCF-7	breast:
3	chr16:80957573..80958407-chr16:81248225..81248964,2	MCF-7	breast:
4	chr16:81069305..81071127-chr16:81245572..81248364,2	MCF-7	breast:
5	chr16:81241192..81243910-chr16:81245039..81247038,2	K562	blood:
6	chr16:81172576..81173403-chr16:81248138..81248840,3	MCF-7	breast:
7	chr16:81247005..81248627-chr16:81352449..81354700,2	MCF-7	breast:
8	chr16:81245699..81248674-chr16:81249555..81252970,3	MCF-7	breast:
9	chr16:81241227..81242898-chr16:81245721..81248177,2	K562	blood:
10	chr16:81242972..81244924-chr16:81246844..81249498,3	MCF-7	breast:
11	chr16:81248097..81248854-chr4:25989659..25990237,2	MCF-7	breast:
12	chr16:81238218..81239252-chr16:81247860..81248811,3	MCF-7	breast:
13	chr16:81247068..81250020-chr16:81347732..81349543,2	MCF-7	breast:
14	chr16:81248661..81251389-chr16:81251410..81253409,3	K562	blood:
15	chr16:81068795..81069630-chr16:81248235..81248808,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261609	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000260213	chromatin interactions

Extended variants
information (count: 294 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374437545	chr16:81244598-81244599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537391057	chr16:81244604-81244605	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563793086	chr16:81244618-81244619	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528172279	chr16:81244630-81244631	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540365044	chr16:81244632-81244633	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11150371	chr16:81244635-81244636	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs531722307	chr16:81244636-81244637	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528911908	chr16:81244638-81244639	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550866262	chr16:81244660-81244661	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144646326	chr16:81244674-81244675	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373698425	chr16:81244688-81244689	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551603571	chr16:81244719-81244720	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79920000	chr16:81244727-81244728	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534797484	chr16:81244744-81244745	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560787267	chr16:81244764-81244765	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568338279	chr16:81244791-81244792	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530333812	chr16:81244795-81244796	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147637051	chr16:81244796-81244797	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557193480	chr16:81244810-81244811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369125035	chr16:81244841-81244842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575539548	chr16:81244858-81244859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539791407	chr16:81244900-81244901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557923267	chr16:81244941-81244942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573420010	chr16:81244945-81244946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539929814	chr16:81244949-81244950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529893527	chr16:81244961-81244962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561842980	chr16:81244971-81244972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183298104	chr16:81244972-81244973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142288671	chr16:81244994-81244995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145918371	chr16:81245011-81245012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145565907	chr16:81245017-81245018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551738784	chr16:81245033-81245034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548546946	chr16:81245042-81245043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10716338	chr16:81245048-81245049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560071524	chr16:81245067-81245068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116808732	chr16:81245070-81245071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543907065	chr16:81245082-81245083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546747014	chr16:81245084-81245085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148839209	chr16:81245087-81245088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373196785	chr16:81245088-81245089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535414590	chr16:81245090-81245091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35111351	chr16:81245100-81245101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550559229	chr16:81245103-81245104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568953457	chr16:81245113-81245114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539730225	chr16:81245128-81245129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558458634	chr16:81245136-81245137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113648228	chr16:81245138-81245139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148019345	chr16:81245140-81245141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11150372	chr16:81245141-81245142	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs62052427	chr16:81245175-81245176	Enhancers 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
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
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81215000-81254600	Weak transcription	Right Atrium	heart
2	chr16:81244600-81244800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:81244800-81246200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81245000-81245200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr16:81246200-81246600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81246200-81246800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr16:81246400-81246600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:81246400-81246600	Bivalent Enhancer	Brain Hippocampus Middle	brain
9	chr16:81246600-81246800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr16:81246600-81247000	Enhancers	Brain Anterior Caudate	brain
11	chr16:81246600-81247000	Enhancers	Brain Hippocampus Middle	brain
12	chr16:81246600-81248600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:81246800-81247200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:81247000-81248400	Weak transcription	Brain Anterior Caudate	brain
15	chr16:81248000-81248400	Bivalent Enhancer	HepG2	liver
16	chr16:81248200-81248600	Enhancers	A549	lung
17	chr16:81248200-81248800	Bivalent Enhancer	Placenta	Placenta
18	chr16:81248400-81248600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr16:81248400-81248600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:81248400-81248600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr16:81248400-81248600	Flanking Bivalent TSS/Enh	K562	blood
22	chr16:81248400-81248800	Enhancers	Brain Anterior Caudate	brain
23	chr16:81248400-81248800	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr16:81248600-81248800	Enhancers	Gastric	stomach
25	chr16:81248600-81249000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:81248600-81253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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