Variant report

Variant	esv3313422
Chromosome Location	chr16:76716054-76719274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71394271	chr16:76716059-76716060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368147801	chr16:76716147-76716148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190120327	chr16:76716196-76716197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563326289	chr16:76716203-76716204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529025808	chr16:76716250-76716251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372578906	chr16:76716293-76716294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183068923	chr16:76716304-76716305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565390874	chr16:76716359-76716360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534327352	chr16:76716366-76716367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550932961	chr16:76716374-76716375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571935658	chr16:76716426-76716427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs77468349	chr16:76716433-76716434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188479383	chr16:76716509-76716510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574146684	chr16:76716563-76716564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536793371	chr16:76716607-76716608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73616035	chr16:76716628-76716629	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573338802	chr16:76716658-76716659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191572458	chr16:76716673-76716674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565114905	chr16:76716717-76716718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577905671	chr16:76716747-76716748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373801959	chr16:76716771-76716772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367600910	chr16:76716833-76716834	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138695442	chr16:76716843-76716844	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372320486	chr16:76716845-76716846	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141140405	chr16:76716848-76716849	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150385548	chr16:76716858-76716859	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551390685	chr16:76716860-76716861	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73616036	chr16:76716905-76716906	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184204796	chr16:76716907-76716908	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571790919	chr16:76716922-76716923	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117027044	chr16:76716930-76716931	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79826027	chr16:76716932-76716933	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536851868	chr16:76716955-76716956	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553577608	chr16:76716958-76716959	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188708022	chr16:76716966-76716967	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539121442	chr16:76717026-76717027	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs72788664	chr16:76717061-76717062	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575547245	chr16:76717158-76717159	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs73616037	chr16:76717159-76717160	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543142675	chr16:76717204-76717205	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138069121	chr16:76717206-76717207	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs377042575	chr16:76717207-76717208	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs528490638	chr16:76717210-76717211	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369293771	chr16:76717213-76717214	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs574345935	chr16:76717243-76717244	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs149516357	chr16:76717252-76717253	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs559105656	chr16:76717253-76717254	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs143991055	chr16:76717278-76717279	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs551625192	chr16:76717324-76717325	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192770210	chr16:76717346-76717347	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76710800-76716400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr16:76715600-76716600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:76716400-76716800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr16:76716400-76717800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr16:76716600-76716800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr16:76716600-76716800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr16:76716600-76717600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:76716600-76717800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr16:76716600-76718000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:76716600-76718600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr16:76716800-76717000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr16:76716800-76717000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:76716800-76717000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr16:76716800-76717200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr16:76716800-76717400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:76717000-76717400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr16:76717000-76717400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr16:76717400-76717600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr16:76717400-76717600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr16:76717400-76718000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr16:76717400-76718200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr16:76717600-76717800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr16:76717600-76718200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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