Variant report

Variant	esv3364308
Chromosome Location	chr16:46398446-46404491
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2196 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:2196 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4559929	chr16:46398447-46398448	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12600183	chr16:46398455-46398456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6422027	chr16:46398456-46398457	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8052038	chr16:46398459-46398460	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58747990	chr16:46398460-46398461	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4357958	chr16:46398462-46398463	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57101089	chr16:46398464-46398465	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs28816490	chr16:46398470-46398471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4232918	chr16:46398473-46398474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28801072	chr16:46398475-46398476	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60011602	chr16:46398476-46398477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28776554	chr16:46398488-46398489	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28750980	chr16:46398494-46398495	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28842498	chr16:46398496-46398497	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28862342	chr16:46398499-46398500	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28808146	chr16:46398500-46398501	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4966441	chr16:46398503-46398504	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8045823	chr16:46398506-46398507	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9934347	chr16:46398509-46398510	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58927044	chr16:46398512-46398513	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59863315	chr16:46398513-46398514	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28873081	chr16:46398516-46398517	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7191186	chr16:46398522-46398523	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28814111	chr16:46398525-46398526	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4232877	chr16:46398526-46398527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9925187	chr16:46398528-46398529	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7342719	chr16:46398536-46398537	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4966945	chr16:46398539-46398540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28814285	chr16:46398541-46398542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28852780	chr16:46398547-46398548	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58427558	chr16:46398552-46398553	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6413666	chr16:46398553-46398554	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs11864442	chr16:46398558-46398559	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28766364	chr16:46398562-46398563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4257229	chr16:46398563-46398564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28864781	chr16:46398571-46398572	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7193556	chr16:46398572-46398573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4232879	chr16:46398580-46398581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9934366	chr16:46398585-46398586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28783993	chr16:46398586-46398587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11863572	chr16:46398592-46398593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57698690	chr16:46398597-46398598	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11860666	chr16:46398598-46398599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3954241	chr16:46398601-46398602	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs9932321	chr16:46398606-46398607	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs28852744	chr16:46398607-46398608	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs4966947	chr16:46398609-46398610	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs9934421	chr16:46398611-46398612	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs28802006	chr16:46398612-46398613	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs28761027	chr16:46398614-46398615	ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Autism	19955444	CNVD
Schizophrenia	19955444	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

Chromatin state (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
2	chr16:46389200-46404000	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr16:46389200-46404000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr16:46397000-46398600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:46397000-46398600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr16:46397000-46398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:46397000-46398600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:46397000-46398600	Weak transcription	Aorta	Aorta
9	chr16:46397000-46398600	Weak transcription	Brain Angular Gyrus	brain
10	chr16:46397000-46398600	Weak transcription	Brain Hippocampus Middle	brain
11	chr16:46397000-46398600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr16:46397000-46398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:46397000-46398600	Weak transcription	Brain Substantia Nigra	brain
14	chr16:46397000-46398600	Weak transcription	Colonic Mucosa	Colon
15	chr16:46397000-46398600	Weak transcription	Placenta	Placenta
16	chr16:46397000-46398600	Weak transcription	Fetal Thymus	thymus
17	chr16:46397000-46398600	Weak transcription	Gastric	stomach
18	chr16:46397000-46398600	Weak transcription	Left Ventricle	heart
19	chr16:46397000-46398600	Weak transcription	Ovary	ovary
20	chr16:46397000-46398600	Weak transcription	Pancreas	Pancrea
21	chr16:46397000-46398600	Weak transcription	Psoas Muscle	Psoas
22	chr16:46397000-46398600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:46397000-46398600	Weak transcription	Right Atrium	heart
24	chr16:46397000-46398600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr16:46397000-46398600	Weak transcription	Stomach Mucosa	stomach
26	chr16:46397000-46398600	Weak transcription	Thymus	Thymus
27	chr16:46397000-46398600	Weak transcription	Spleen	Spleen
28	chr16:46397000-46398600	Weak transcription	NH-A	brain
29	chr16:46397000-46398600	Weak transcription	NHDF-Ad	bronchial
30	chr16:46397000-46398600	Weak transcription	NHEK	skin
31	chr16:46397000-46398600	Weak transcription	NHLF	lung
32	chr16:46398000-46404000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr16:46398200-46399200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:46398200-46399200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:46398200-46399200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr16:46398200-46399200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
39	chr16:46398200-46399200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:46398200-46399200	ZNF genes & repeats	K562	blood
41	chr16:46398200-46399400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:46398200-46399400	ZNF genes & repeats	Fetal Stomach	stomach
43	chr16:46398200-46401800	ZNF genes & repeats	Dnd41	blood
44	chr16:46398200-46402000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr16:46398200-46402000	ZNF genes & repeats	Fetal Brain Male	brain
46	chr16:46398200-46402000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
47	chr16:46398200-46402600	ZNF genes & repeats	Fetal Heart	heart
48	chr16:46398200-46404000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr16:46398200-46404000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr16:46398200-46404000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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