Variant report

Variant	esv3414306
Chromosome Location	chr16:59303551-59308549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190299666	chr16:59303569-59303570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538637680	chr16:59303610-59303611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145940247	chr16:59303666-59303667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528794314	chr16:59303786-59303787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10492912	chr16:59303795-59303796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565283096	chr16:59303800-59303801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139487278	chr16:59303820-59303821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576685356	chr16:59303857-59303858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554711998	chr16:59303919-59303920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541777445	chr16:59303963-59303964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536002912	chr16:59307606-59307607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141165696	chr16:59307626-59307627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529823460	chr16:59307630-59307631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575979318	chr16:59307759-59307760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546233646	chr16:59307805-59307806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186375882	chr16:59307809-59307810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573166878	chr16:59307889-59307890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548158188	chr16:59307900-59307901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540415512	chr16:59307910-59307911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369764439	chr16:59307967-59307968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566390705	chr16:59307989-59307990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562200535	chr16:59307999-59308000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529083777	chr16:59308010-59308011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368887565	chr16:59308018-59308019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190840694	chr16:59308028-59308029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73553978	chr16:59308031-59308032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs533093593	chr16:59308056-59308057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150737508	chr16:59308095-59308096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139100714	chr16:59308124-59308125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144780913	chr16:59308131-59308132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548814596	chr16:59308161-59308162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567307471	chr16:59308237-59308238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535690537	chr16:59308255-59308256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs8054778	chr16:59308262-59308263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs8056691	chr16:59308284-59308285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs537119781	chr16:59308308-59308309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147931460	chr16:59308314-59308315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113269617	chr16:59308322-59308323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371587769	chr16:59308326-59308327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140134785	chr16:59308328-59308329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376144941	chr16:59308484-59308485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562065747	chr16:59308491-59308492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78054053	chr16:59308492-59308493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8061349	chr16:59308512-59308513	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs369510588	chr16:59308514-59308515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs8061364	chr16:59308536-59308537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551303440	chr16:59308543-59308544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59301600-59303600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr16:59302400-59303600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:59303200-59303600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr16:59303400-59303600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr16:59303400-59303800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr16:59303600-59304000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:59307600-59308800	Enhancers	Fetal Heart	heart
8	chr16:59308000-59308200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:59308000-59308400	Enhancers	Left Ventricle	heart
10	chr16:59308400-59309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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