Variant report

Variant	esv3313402
Chromosome Location	chr16:72300555-72301530
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141678405	chr16:72300567-72300568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191013963	chr16:72300574-72300575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548587285	chr16:72300584-72300585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567212294	chr16:72300589-72300590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181763530	chr16:72300595-72300596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111529068	chr16:72300599-72300600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9924541	chr16:72300646-72300647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149329904	chr16:72300681-72300682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531830965	chr16:72300690-72300691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574450132	chr16:72300736-72300737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541457364	chr16:72300746-72300747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34628801	chr16:72300780-72300781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527547511	chr16:72300800-72300801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571645619	chr16:72300810-72300811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572014997	chr16:72300815-72300816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114906084	chr16:72300856-72300857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564324229	chr16:72300864-72300865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9924595	chr16:72300901-72300902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs185891116	chr16:72300936-72300937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371873825	chr16:72300959-72300960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527719672	chr16:72301004-72301005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117762221	chr16:72301058-72301059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564249913	chr16:72301059-72301060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139525331	chr16:72301111-72301112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531352948	chr16:72301147-72301148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566825992	chr16:72301168-72301169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527998866	chr16:72301257-72301258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142715324	chr16:72301259-72301260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571044497	chr16:72301292-72301293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538082842	chr16:72301320-72301321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12924843	chr16:72301321-72301322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556699142	chr16:72301367-72301368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567852457	chr16:72301403-72301404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535134338	chr16:72301425-72301426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146058811	chr16:72301467-72301468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191679149	chr16:72301468-72301469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8059679	chr16:72301472-72301473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76278378	chr16:72301505-72301506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72290400-72316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:72291400-72303200	Weak transcription	HepG2	liver
3	chr16:72296600-72317400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:72297000-72305600	Weak transcription	Brain Anterior Caudate	brain
5	chr16:72297800-72318000	Weak transcription	Thymus	Thymus
6	chr16:72298200-72303600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr16:72298400-72301000	Weak transcription	Fetal Intestine Small	intestine
8	chr16:72298400-72303200	Weak transcription	Fetal Intestine Large	intestine
9	chr16:72300200-72304200	Weak transcription	HSMMtube	muscle
10	chr16:72300800-72301000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr16:72301000-72301400	Enhancers	Fetal Intestine Small	intestine
12	chr16:72301200-72305000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:72301400-72303400	Weak transcription	Fetal Intestine Small	intestine

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