Variant report

Variant	esv8215
Chromosome Location	chr16:46406546-46411999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1430 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1430 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9745390	chr16:46406546-46406547	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs9745391	chr16:46406548-46406549	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs56260071	chr16:46406549-46406550	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs28865590	chr16:46406550-46406551	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs7200104	chr16:46406551-46406552	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs9673581	chr16:46406553-46406554	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs8061686	chr16:46406554-46406555	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs77823611	chr16:46406557-46406558	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs28888082	chr16:46406558-46406559	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs7188228	chr16:46406560-46406561	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs9972708	chr16:46406562-46406563	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs7185873	chr16:46406563-46406564	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs56188720	chr16:46406564-46406565	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs4441302	chr16:46406565-46406566	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs57366821	chr16:46406566-46406567	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs78735561	chr16:46406569-46406570	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs78917403	chr16:46406571-46406572	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs4967180	chr16:46406572-46406573	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs77800381	chr16:46406573-46406574	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs7500440	chr16:46406574-46406575	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs4453526	chr16:46406575-46406576	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs58187804	chr16:46406577-46406578	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs28878846	chr16:46406579-46406580	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs9745901	chr16:46406580-46406581	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs55712732	chr16:46406581-46406582	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs7185885	chr16:46406582-46406583	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs9921870	chr16:46406583-46406584	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs77160260	chr16:46406584-46406585	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs56363854	chr16:46406585-46406586	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs59761643	chr16:46406587-46406588	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs56783559	chr16:46406588-46406589	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs57391586	chr16:46406590-46406591	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs59133101	chr16:46406592-46406593	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs28885115	chr16:46406593-46406594	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs74365255	chr16:46406594-46406595	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs78572730	chr16:46406595-46406596	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs59449192	chr16:46406596-46406597	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs113472019	chr16:46406598-46406599	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs4249360	chr16:46406599-46406600	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs28846487	chr16:46406602-46406603	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs9673585	chr16:46406606-46406607	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs58082379	chr16:46406607-46406608	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs9708710	chr16:46406608-46406609	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs9708295	chr16:46406612-46406613	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs61145446	chr16:46406613-46406614	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs10221179	chr16:46406614-46406615	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs74524756	chr16:46406620-46406621	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs58883649	chr16:46406621-46406622	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs4967181	chr16:46406622-46406623	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs7500459	chr16:46406623-46406624	ZNF genes & repeats 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:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:46404800-46406800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
4	chr16:46404800-46406800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:46404800-46406800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
6	chr16:46404800-46406800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
7	chr16:46404800-46406800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr16:46404800-46406800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
9	chr16:46404800-46406800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
10	chr16:46404800-46406800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr16:46404800-46406800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
12	chr16:46404800-46406800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
13	chr16:46404800-46406800	ZNF genes & repeats	Liver	Liver
14	chr16:46404800-46406800	ZNF genes & repeats	Brain Anterior Caudate	brain
15	chr16:46404800-46406800	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr16:46404800-46406800	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr16:46404800-46406800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
18	chr16:46404800-46406800	ZNF genes & repeats	Colon Smooth Muscle	Colon
19	chr16:46404800-46406800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr16:46404800-46406800	ZNF genes & repeats	Fetal Brain Male	brain
21	chr16:46404800-46406800	ZNF genes & repeats	Fetal Brain Female	brain
22	chr16:46404800-46406800	ZNF genes & repeats	Fetal Heart	heart
23	chr16:46404800-46406800	ZNF genes & repeats	Fetal Lung	lung
24	chr16:46404800-46406800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr16:46404800-46406800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr16:46404800-46406800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
27	chr16:46404800-46406800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr16:46404800-46406800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr16:46404800-46406800	ZNF genes & repeats	Stomach Mucosa	stomach
30	chr16:46404800-46406800	ZNF genes & repeats	Spleen	Spleen
31	chr16:46404800-46406800	ZNF genes & repeats	Hela-S3	cervix
32	chr16:46404800-46406800	ZNF genes & repeats	HSMMtube	muscle
33	chr16:46404800-46406800	ZNF genes & repeats	Osteobl	bone
34	chr16:46404800-46407800	ZNF genes & repeats	A549	lung
35	chr16:46404800-46407800	ZNF genes & repeats	HUVEC	blood vessel
36	chr16:46404800-46407800	ZNF genes & repeats	K562	blood
37	chr16:46404800-46407800	ZNF genes & repeats	NH-A	brain
38	chr16:46404800-46408000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
39	chr16:46404800-46408000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
40	chr16:46404800-46408000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:46404800-46408000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
42	chr16:46404800-46408000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
43	chr16:46404800-46408000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr16:46404800-46408000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:46404800-46408000	ZNF genes & repeats	Fetal Intestine Large	intestine
46	chr16:46404800-46408000	ZNF genes & repeats	Left Ventricle	heart
47	chr16:46404800-46408000	ZNF genes & repeats	HMEC	breast
48	chr16:46404800-46408200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr16:46404800-46408200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
50	chr16:46404800-46408200	ZNF genes & repeats	Small Intestine	intestine

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