Variant report

Variant	esv6035
Chromosome Location	chr16:35235057-35278039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4838 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:4838 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564890499	chr16:35235063-35235064	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs202142883	chr16:35235065-35235066	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554432292	chr16:35235078-35235079	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79500446	chr16:35235090-35235091	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572567684	chr16:35235091-35235092	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75989802	chr16:35235098-35235099	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550828430	chr16:35235106-35235107	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12923144	chr16:35235110-35235111	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562977374	chr16:35235112-35235113	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199639632	chr16:35235121-35235122	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548395444	chr16:35235125-35235126	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566779171	chr16:35235131-35235132	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79333891	chr16:35235133-35235134	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546206306	chr16:35235140-35235141	ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552221845	chr16:35235202-35235203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570316378	chr16:35235219-35235220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537833734	chr16:35235220-35235221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111933136	chr16:35235236-35235237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200520793	chr16:35235237-35235238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201583506	chr16:35235260-35235261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543146738	chr16:35235269-35235270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376724999	chr16:35235270-35235271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186520755	chr16:35235273-35235274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557966010	chr16:35235282-35235283	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199545191	chr16:35235284-35235285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368986978	chr16:35235311-35235312	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372942378	chr16:35235316-35235317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574475147	chr16:35235319-35235320	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377734457	chr16:35235322-35235323	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191380386	chr16:35235336-35235337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201523099	chr16:35235371-35235372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199812424	chr16:35235408-35235409	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78884530	chr16:35235419-35235420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536489225	chr16:35235428-35235429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78653605	chr16:35235429-35235430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370878920	chr16:35235433-35235434	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554703103	chr16:35235435-35235436	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79057668	chr16:35235436-35235437	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74392442	chr16:35235438-35235439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182522956	chr16:35235440-35235441	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75449162	chr16:35235443-35235444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77736620	chr16:35235447-35235448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367613417	chr16:35235466-35235467	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76852255	chr16:35235481-35235482	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75380085	chr16:35235499-35235500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576337115	chr16:35235508-35235509	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79213856	chr16:35235522-35235523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199900892	chr16:35235525-35235526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs75473094	chr16:35235541-35235542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs80087856	chr16:35235544-35235545	ZNF genes & repeats 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:256 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35224400-35237800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:35224600-35243000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:35227400-35242800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr16:35231600-35242800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr16:35234200-35235800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr16:35234600-35235200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:35234600-35235200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
8	chr16:35234600-35235200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:35234600-35235200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr16:35234600-35235200	Active TSS	Aorta	Aorta
11	chr16:35234600-35235200	ZNF genes & repeats	Liver	Liver
12	chr16:35234600-35235200	ZNF genes & repeats	Fetal Brain Male	brain
13	chr16:35234800-35235200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:35234800-35235200	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr16:35234800-35235200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:35234800-35235200	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr16:35234800-35235200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr16:35234800-35235200	ZNF genes & repeats	Left Ventricle	heart
19	chr16:35234800-35235200	Bivalent/Poised TSS	Ovary	ovary
20	chr16:35234800-35235200	ZNF genes & repeats	Hela-S3	cervix
21	chr16:35234800-35235400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:35235000-35235200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:35235200-35237000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:35235200-35237000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr16:35235200-35237000	Weak transcription	Left Ventricle	heart
26	chr16:35235200-35239600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr16:35235200-35239600	Weak transcription	Aorta	Aorta
28	chr16:35235200-35239600	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:35235200-35239600	Weak transcription	Ovary	ovary
30	chr16:35235200-35239600	Weak transcription	Hela-S3	cervix
31	chr16:35236600-35237000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr16:35237000-35237200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
33	chr16:35237000-35237200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
34	chr16:35237000-35237200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr16:35237000-35237400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:35237000-35237400	ZNF genes & repeats	Left Ventricle	heart
37	chr16:35237000-35240200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
38	chr16:35237400-35239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:35238000-35239600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr16:35238200-35238400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr16:35238400-35238600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr16:35238600-35239600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr16:35239200-35239600	Weak transcription	K562	blood
44	chr16:35239200-35239600	Weak transcription	NH-A	brain
45	chr16:35239600-35239800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
46	chr16:35239600-35239800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:35239600-35239800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr16:35239600-35239800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:35239600-35239800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr16:35239600-35239800	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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