Variant report

Variant	esv17681
Chromosome Location	chr16:35245230-35285750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4322 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4322 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537254350	chr16:35245232-35245233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555892699	chr16:35245239-35245240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574270958	chr16:35245243-35245244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541747269	chr16:35245264-35245265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528645359	chr16:35245265-35245266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577663706	chr16:35245276-35245277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563452960	chr16:35245283-35245284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540845379	chr16:35245290-35245291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8189671	chr16:35245302-35245303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542478782	chr16:35245303-35245304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8189639	chr16:35245313-35245314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528258373	chr16:35245319-35245320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546956373	chr16:35245322-35245323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149833410	chr16:35245329-35245330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143181543	chr16:35245332-35245333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200942002	chr16:35245335-35245336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148804018	chr16:35245336-35245337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147704964	chr16:35245344-35245345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8189672	chr16:35245346-35245347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571561363	chr16:35245348-35245349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138613603	chr16:35245351-35245352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149418778	chr16:35245354-35245355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142359592	chr16:35245365-35245366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376733779	chr16:35245370-35245371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200793801	chr16:35245371-35245372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140992230	chr16:35245373-35245374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147981079	chr16:35245382-35245383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs8189676	chr16:35245383-35245384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147290181	chr16:35245384-35245385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144223770	chr16:35245385-35245386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569321225	chr16:35245386-35245387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151184539	chr16:35245393-35245394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142598394	chr16:35245394-35245395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141543279	chr16:35245395-35245396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141800375	chr16:35245397-35245398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140364807	chr16:35245398-35245399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8189640	chr16:35245404-35245405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141174444	chr16:35245410-35245411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142824496	chr16:35245412-35245413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139186411	chr16:35245413-35245414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147808201	chr16:35245414-35245415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150063524	chr16:35245415-35245416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148960859	chr16:35245421-35245422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138817111	chr16:35245423-35245424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536314509	chr16:35245424-35245425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143850684	chr16:35245425-35245426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201761121	chr16:35245447-35245448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111506512	chr16:35245452-35245453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567893434	chr16:35245459-35245460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534905285	chr16:35245467-35245468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Ductal carcinoma	22052326	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
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Benign familial neonatal-infantile seizures	21060786	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Cancer	21183584	CNVD
Disorders of sex development	21048976	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	21045282	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	18194544	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35239800-35250200	Weak transcription	K562	blood
2	chr16:35248600-35250000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr16:35248800-35250400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr16:35249000-35249400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr16:35249000-35249400	ZNF genes & repeats	HUVEC	blood vessel
6	chr16:35249000-35250400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr16:35249000-35250600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:35249000-35250600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:35249000-35250600	Active TSS	Fetal Heart	heart
10	chr16:35249000-35250600	ZNF genes & repeats	Fetal Lung	lung
11	chr16:35249000-35250600	ZNF genes & repeats	HMEC	breast
12	chr16:35249400-35250400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr16:35250200-35250400	ZNF genes & repeats	HUVEC	blood vessel
14	chr16:35250200-35250400	ZNF genes & repeats	NHLF	lung
15	chr16:35250200-35250600	ZNF genes & repeats	HSMM	muscle
16	chr16:35250200-35250600	ZNF genes & repeats	HSMMtube	muscle
17	chr16:35250200-35250600	ZNF genes & repeats	K562	blood
18	chr16:35250200-35250600	ZNF genes & repeats	NH-A	brain
19	chr16:35250600-35267400	Weak transcription	K562	blood
20	chr16:35256600-35261600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr16:35257000-35260000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:35257600-35262000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr16:35259000-35259800	ZNF genes & repeats	HUVEC	blood vessel
24	chr16:35259000-35261400	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr16:35259000-35262600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr16:35259200-35259600	Weak transcription	Aorta	Aorta
27	chr16:35259200-35260000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:35259200-35262000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:35259400-35260000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:35259600-35259800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr16:35259600-35259800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr16:35259600-35259800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
35	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
36	chr16:35259600-35259800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:35259600-35259800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
38	chr16:35259600-35259800	ZNF genes & repeats	Brain Angular Gyrus	brain
39	chr16:35259600-35259800	ZNF genes & repeats	Brain Substantia Nigra	brain
40	chr16:35259600-35259800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
41	chr16:35259600-35259800	Bivalent Enhancer	Gastric	stomach
42	chr16:35259600-35259800	ZNF genes & repeats	Stomach Mucosa	stomach
43	chr16:35259600-35259800	ZNF genes & repeats	GM12878-XiMat	blood
44	chr16:35259600-35260000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:35259600-35260000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
46	chr16:35259600-35260000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr16:35259600-35260000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
48	chr16:35259600-35260000	ZNF genes & repeats	Aorta	Aorta
49	chr16:35259600-35260000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
50	chr16:35259600-35260000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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