Variant report

Variant	esv2605360
Chromosome Location	chr16:46391996-46392190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 165 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4470315	chr16:46391996-46391997	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs4250122	chr16:46391997-46391998	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs56701355	chr16:46391999-46392000	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs28750543	chr16:46392000-46392001	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs11861856	chr16:46392001-46392002	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs4362419	chr16:46392002-46392003	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs61696057	chr16:46392003-46392004	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs4319791	chr16:46392004-46392005	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs4637080	chr16:46392005-46392006	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs28864762	chr16:46392006-46392007	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs4967692	chr16:46392007-46392008	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs71239239	chr16:46392008-46392009	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs4372866	chr16:46392009-46392010	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs4633898	chr16:46392010-46392011	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs28871716	chr16:46392011-46392012	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs4967693	chr16:46392012-46392013	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs28812023	chr16:46392013-46392014	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs12373072	chr16:46392014-46392015	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs4306531	chr16:46392015-46392016	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs10445171	chr16:46392016-46392017	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs28875539	chr16:46392017-46392018	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs12448340	chr16:46392018-46392019	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs4505357	chr16:46392019-46392020	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs9674334	chr16:46392020-46392021	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs4595945	chr16:46392021-46392022	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs28757369	chr16:46392022-46392023	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs28802709	chr16:46392023-46392024	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs9652763	chr16:46392024-46392025	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs28798078	chr16:46392025-46392026	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs11861863	chr16:46392027-46392028	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs28818528	chr16:46392028-46392029	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs4574082	chr16:46392029-46392030	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs4372867	chr16:46392030-46392031	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs4967695	chr16:46392031-46392032	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs28821896	chr16:46392032-46392033	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs4633899	chr16:46392033-46392034	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs4966774	chr16:46392034-46392035	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs4452114	chr16:46392035-46392036	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs28885976	chr16:46392036-46392037	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs4490026	chr16:46392037-46392038	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs28857320	chr16:46392038-46392039	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs10445123	chr16:46392039-46392040	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs146672230	chr16:46392040-46392041	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs55636535	chr16:46392041-46392042	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs28877955	chr16:46392042-46392043	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs7199733	chr16:46392044-46392045	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs28800203	chr16:46392045-46392046	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs4396558	chr16:46392046-46392047	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs4088665	chr16:46392047-46392048	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs4372868	chr16:46392048-46392049	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
2	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
3	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
10	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
14	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
15	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
16	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
17	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
18	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
20	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
21	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
25	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
28	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
29	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
31	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
32	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
34	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
35	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain
36	chr16:46388000-46394600	ZNF genes & repeats	HSMMtube	muscle
37	chr16:46388000-46397000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:46388000-46397000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr16:46388000-46397000	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr16:46388000-46397000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr16:46388000-46397000	ZNF genes & repeats	Dnd41	blood
42	chr16:46388200-46393400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:46388200-46393400	ZNF genes & repeats	Brain Substantia Nigra	brain
44	chr16:46388200-46393400	ZNF genes & repeats	K562	blood
45	chr16:46388200-46396800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr16:46388200-46397000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:46388200-46397000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
48	chr16:46388200-46397000	ZNF genes & repeats	Ovary	ovary
49	chr16:46388400-46393400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:46388400-46393400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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