Variant report

Variant	esv3393483
Chromosome Location	chr16:35203351-35262849
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6492 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:6492 , 50 per page) page: 1 2 3 4 5 6 7 ... 130

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371824986	chr16:35203366-35203367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549819605	chr16:35203367-35203368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529795198	chr16:35203398-35203399	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199631899	chr16:35203423-35203424	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374970086	chr16:35203443-35203444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568313433	chr16:35203461-35203462	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535105464	chr16:35203505-35203506	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369089051	chr16:35203516-35203517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371616662	chr16:35203521-35203522	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202119199	chr16:35203552-35203553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547374562	chr16:35203555-35203556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200427114	chr16:35203561-35203562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143735755	chr16:35203574-35203575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375955499	chr16:35203584-35203585	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539591704	chr16:35203587-35203588	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145952925	chr16:35203589-35203590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185060554	chr16:35203590-35203591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138871139	chr16:35203592-35203593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200857551	chr16:35203594-35203595	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113830425	chr16:35203637-35203638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181955206	chr16:35203641-35203642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548352446	chr16:35203647-35203648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141195759	chr16:35203663-35203664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575031378	chr16:35203670-35203671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542147630	chr16:35203690-35203691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190559605	chr16:35203692-35203693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187049303	chr16:35203711-35203712	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560160060	chr16:35203713-35203714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572085892	chr16:35203736-35203737	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545928130	chr16:35203774-35203775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12922138	chr16:35203784-35203785	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139104820	chr16:35203787-35203788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549899653	chr16:35203799-35203800	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561842542	chr16:35203822-35203823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529230716	chr16:35203840-35203841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373999884	chr16:35203862-35203863	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547713283	chr16:35203877-35203878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563375829	chr16:35203882-35203883	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530486795	chr16:35203928-35203929	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200320104	chr16:35203935-35203936	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79941170	chr16:35203941-35203942	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551516279	chr16:35203942-35203943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181028401	chr16:35203967-35203968	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571089955	chr16:35203975-35203976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112146993	chr16:35203996-35203997	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538060309	chr16:35204001-35204002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369001079	chr16:35204039-35204040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556678780	chr16:35204085-35204086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373340111	chr16:35204135-35204136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528816896	chr16:35204140-35204141	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:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:35200800-35208600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr16:35201200-35213200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:35201600-35205800	Weak transcription	NH-A	brain
4	chr16:35203600-35205800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr16:35205600-35208600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr16:35205600-35209200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr16:35205600-35221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:35205800-35206000	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:35205800-35206000	ZNF genes & repeats	Small Intestine	intestine
10	chr16:35205800-35206200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr16:35205800-35206200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr16:35205800-35206200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:35205800-35206200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
14	chr16:35205800-35206200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr16:35205800-35206200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
16	chr16:35205800-35206200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:35205800-35206200	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr16:35205800-35206200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr16:35205800-35206200	ZNF genes & repeats	Fetal Lung	lung
20	chr16:35205800-35206200	ZNF genes & repeats	HUVEC	blood vessel
21	chr16:35205800-35206200	ZNF genes & repeats	NH-A	brain
22	chr16:35205800-35206400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
23	chr16:35205800-35212200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
24	chr16:35206000-35206200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:35206000-35206200	ZNF genes & repeats	HepG2	liver
26	chr16:35206200-35215800	Weak transcription	NH-A	brain
27	chr16:35207400-35208400	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr16:35208600-35210800	ZNF genes & repeats	Liver	Liver
29	chr16:35210400-35210600	ZNF genes & repeats	Brain Angular Gyrus	brain
30	chr16:35210800-35211600	Weak transcription	Liver	Liver
31	chr16:35211600-35213800	ZNF genes & repeats	Liver	Liver
32	chr16:35211600-35221200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr16:35213200-35213600	Active TSS	Aorta	Aorta
34	chr16:35213400-35213600	ZNF genes & repeats	Left Ventricle	heart
35	chr16:35213400-35215800	Weak transcription	Small Intestine	intestine
36	chr16:35213600-35215800	Weak transcription	Aorta	Aorta
37	chr16:35213600-35215800	Weak transcription	Left Ventricle	heart
38	chr16:35214000-35215600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:35214400-35216600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr16:35214400-35220600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr16:35215400-35216200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr16:35215400-35216400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:35215600-35216200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:35215800-35216000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:35215800-35216000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:35215800-35216000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:35215800-35216000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr16:35215800-35216000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:35215800-35216000	Flanking Active TSS	Aorta	Aorta
50	chr16:35215800-35216200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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