Variant report

Variant	esv15426
Chromosome Location	chr16:48078692-48084956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 218 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:218 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570384189	chr16:48078702-48078703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191057590	chr16:48078741-48078742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35162496	chr16:48078774-48078775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148979214	chr16:48078795-48078796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566416639	chr16:48078801-48078802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576483258	chr16:48078876-48078877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143736048	chr16:48078889-48078890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73539201	chr16:48078906-48078907	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs151050704	chr16:48078940-48078941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375978480	chr16:48078962-48078963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368848413	chr16:48079101-48079102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs520151	chr16:48079134-48079135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs564787170	chr16:48079152-48079153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35670162	chr16:48079188-48079189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533626484	chr16:48079274-48079275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545817621	chr16:48079282-48079283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562394191	chr16:48079335-48079336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183693468	chr16:48079405-48079406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13334475	chr16:48079476-48079477	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs568127440	chr16:48079508-48079509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs527502729	chr16:48079533-48079534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs547153353	chr16:48079538-48079539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570421348	chr16:48079595-48079596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539299160	chr16:48079613-48079614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13335518	chr16:48079614-48079615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189132008	chr16:48079617-48079618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535825039	chr16:48079648-48079649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113411887	chr16:48079649-48079650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571913078	chr16:48079660-48079661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555607302	chr16:48079666-48079667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13331464	chr16:48079674-48079675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541654609	chr16:48079721-48079722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs377425015	chr16:48079759-48079760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578216085	chr16:48079798-48079799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544170095	chr16:48079814-48079815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563993878	chr16:48079835-48079836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575983946	chr16:48079906-48079907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190999566	chr16:48079907-48079908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561641232	chr16:48079975-48079976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527343364	chr16:48080086-48080087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547190139	chr16:48080117-48080118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563985941	chr16:48080205-48080206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532951292	chr16:48080242-48080243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs118002612	chr16:48080336-48080337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539338558	chr16:48080376-48080377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569910960	chr16:48080377-48080378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554448786	chr16:48080420-48080421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535497813	chr16:48080456-48080457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182831560	chr16:48080499-48080500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187509942	chr16:48080503-48080504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48076200-48088800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:48077200-48079400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:48077200-48081400	Weak transcription	Spleen	Spleen
4	chr16:48077400-48081200	Weak transcription	Fetal Brain Male	brain
5	chr16:48077400-48086000	Weak transcription	Fetal Brain Female	brain
6	chr16:48077600-48079200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr16:48077600-48081000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:48078600-48079200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:48078600-48079400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:48078600-48079800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr16:48079000-48079400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr16:48079200-48079600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr16:48079200-48087200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr16:48079400-48079600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr16:48079400-48079800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:48079400-48087200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr16:48079600-48080800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr16:48079800-48080800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr16:48079800-48086800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr16:48080400-48081400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:48080800-48081200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:48080800-48083200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr16:48081000-48081200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr16:48081000-48082400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:48081000-48082400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr16:48081200-48081400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr16:48081200-48081600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:48081200-48081600	Enhancers	Fetal Brain Male	brain
29	chr16:48081200-48081600	Enhancers	Lung	lung
30	chr16:48081200-48081800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:48081200-48081800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:48081200-48082200	Enhancers	Brain Germinal Matrix	brain
33	chr16:48081400-48082000	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr16:48081400-48082000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr16:48081400-48083000	Enhancers	Spleen	Spleen
36	chr16:48081400-48088800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:48081600-48084000	Weak transcription	Lung	lung
38	chr16:48081600-48085800	Weak transcription	Fetal Brain Male	brain
39	chr16:48081600-48088800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:48081800-48082000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr16:48081800-48083000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:48082000-48083600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr16:48082000-48086800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:48082000-48087000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:48082200-48086000	Weak transcription	Brain Germinal Matrix	brain
46	chr16:48082400-48082600	Enhancers	Fetal Kidney	kidney
47	chr16:48082400-48087600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:48083000-48086000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr16:48083000-48087400	Weak transcription	Spleen	Spleen
50	chr16:48083200-48085800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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