Variant report

Variant	esv2577874
Chromosome Location	chr16:46388103-46388422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 135 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28838724	chr16:46388105-46388106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28849829	chr16:46388113-46388114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4408570	chr16:46388114-46388115	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28788329	chr16:46388115-46388116	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28786436	chr16:46388116-46388117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9673584	chr16:46388119-46388120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28888723	chr16:46388120-46388121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59028379	chr16:46388121-46388122	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7197108	chr16:46388122-46388123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55855811	chr16:46388124-46388125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4967246	chr16:46388125-46388126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71223505	chr16:46388126-46388127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28877333	chr16:46388127-46388128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28821889	chr16:46388131-46388132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28858483	chr16:46388133-46388134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56161487	chr16:46388135-46388136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9673500	chr16:46388136-46388137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28896216	chr16:46388137-46388138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28861459	chr16:46388138-46388139	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28778382	chr16:46388141-46388142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28849835	chr16:46388142-46388143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28849741	chr16:46388145-46388146	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28872590	chr16:46388146-46388147	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28798235	chr16:46388151-46388152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7359434	chr16:46388152-46388153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56378580	chr16:46388155-46388156	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61594160	chr16:46388156-46388157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28865372	chr16:46388160-46388161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28845904	chr16:46388161-46388162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28841402	chr16:46388162-46388163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28885177	chr16:46388165-46388166	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28824817	chr16:46388171-46388172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28891969	chr16:46388176-46388177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs56077253	chr16:46388177-46388178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28877965	chr16:46388178-46388179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28809271	chr16:46388180-46388181	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60245219	chr16:46388182-46388183	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28811742	chr16:46388183-46388184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11861929	chr16:46388185-46388186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58618616	chr16:46388187-46388188	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28842618	chr16:46388190-46388191	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28823030	chr16:46388193-46388194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28869805	chr16:46388195-46388196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9652735	chr16:46388200-46388201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28837529	chr16:46388201-46388202	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28849781	chr16:46388204-46388205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs28773605	chr16:46388205-46388206	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28856615	chr16:46388210-46388211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28787717	chr16:46388214-46388215	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28882442	chr16:46388216-46388217	ZNF genes & repeats Weak transcription	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46388400	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr16:46385800-46393400	ZNF genes & repeats	Aorta	Aorta
3	chr16:46385800-46397000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr16:46385800-46397000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr16:46385800-46397000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:46385800-46397000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr16:46385800-46397000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr16:46385800-46397000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
9	chr16:46385800-46397000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr16:46385800-46397000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr16:46385800-46397000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:46385800-46397000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:46385800-46397000	ZNF genes & repeats	Liver	Liver
15	chr16:46385800-46397000	ZNF genes & repeats	Colon Smooth Muscle	Colon
16	chr16:46385800-46397000	ZNF genes & repeats	Fetal Brain Male	brain
17	chr16:46385800-46397000	ZNF genes & repeats	Left Ventricle	heart
18	chr16:46385800-46397000	ZNF genes & repeats	Psoas Muscle	Psoas
19	chr16:46385800-46397000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
20	chr16:46385800-46397000	ZNF genes & repeats	Small Intestine	intestine
21	chr16:46385800-46397000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr16:46385800-46397200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
23	chr16:46385800-46397600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
24	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr16:46386000-46389200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
26	chr16:46386000-46389400	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr16:46386000-46389400	ZNF genes & repeats	HMEC	breast
28	chr16:46386000-46395600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
29	chr16:46386000-46397000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:46386000-46397000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
31	chr16:46386000-46397000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr16:46386000-46397000	ZNF genes & repeats	Gastric	stomach
33	chr16:46386800-46388400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:46386800-46388400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr16:46386800-46388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr16:46386800-46388400	Weak transcription	Lung	lung
37	chr16:46386800-46388400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr16:46386800-46388400	Weak transcription	Right Ventricle	heart
39	chr16:46386800-46388800	Weak transcription	HepG2	liver
40	chr16:46386800-46397000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr16:46387000-46388200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:46387000-46388200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:46387600-46389400	ZNF genes & repeats	HUVEC	blood vessel
44	chr16:46387600-46391800	ZNF genes & repeats	Hela-S3	cervix
45	chr16:46387600-46394600	ZNF genes & repeats	A549	lung
46	chr16:46387600-46395600	ZNF genes & repeats	Fetal Heart	heart
47	chr16:46387600-46397000	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr16:46387600-46397000	ZNF genes & repeats	Brain Anterior Caudate	brain
49	chr16:46387600-46397000	ZNF genes & repeats	Fetal Lung	lung
50	chr16:46387600-46397000	ZNF genes & repeats	NH-A	brain

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