Variant report

Variant	esv3389251
Chromosome Location	chr16:64945101-64948999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559619335	chr16:64945128-64945129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533046071	chr16:64945140-64945141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114857941	chr16:64945187-64945188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112713729	chr16:64945218-64945219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560218339	chr16:64945221-64945222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12596107	chr16:64945230-64945231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34748288	chr16:64945247-64945248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558402697	chr16:64945248-64945249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548964969	chr16:64945258-64945259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568804922	chr16:64945259-64945260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs397691013	chr16:64945264-64945265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568655333	chr16:64945276-64945277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1896754	chr16:64945284-64945285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1560191	chr16:64945325-64945326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184038987	chr16:64945347-64945348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142542560	chr16:64945391-64945392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115973361	chr16:64945442-64945443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558588056	chr16:64945457-64945458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535436773	chr16:64945522-64945523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555844836	chr16:64945555-64945556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375366461	chr16:64945565-64945566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150955350	chr16:64945578-64945579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544956115	chr16:64945612-64945613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs16968071	chr16:64945633-64945634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs578197886	chr16:64945719-64945720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148065261	chr16:64945757-64945758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146676584	chr16:64945772-64945773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559954362	chr16:64945789-64945790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553283705	chr16:64945803-64945804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74361631	chr16:64945808-64945809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529028067	chr16:64945825-64945826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567834277	chr16:64945849-64945850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141394462	chr16:64945916-64945917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201006127	chr16:64945946-64945947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs16968073	chr16:64946004-64946005	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531480083	chr16:64946070-64946071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551232100	chr16:64946107-64946108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7198189	chr16:64946124-64946125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188773375	chr16:64946138-64946139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547572371	chr16:64946146-64946147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7196976	chr16:64946155-64946156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs115782374	chr16:64946193-64946194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11075558	chr16:64946215-64946216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575738655	chr16:64946243-64946244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538266954	chr16:64946270-64946271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11301875	chr16:64946282-64946283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558457624	chr16:64946296-64946297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578205925	chr16:64946318-64946319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35269868	chr16:64946319-64946320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556057442	chr16:64946321-64946322	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
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
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
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64944400-64945200	Enhancers	Osteobl	bone
2	chr16:64944800-64948800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr16:64945000-64945200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr16:64945000-64949600	Weak transcription	Fetal Lung	lung
5	chr16:64945000-64954400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr16:64948800-64949200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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