Variant report

Variant	esv3353626
Chromosome Location	chr16:46419355-46420317
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46419232..46419882-chr2:89838516..89839016,2	MCF-7	breast:

Extended variants
information (count: 154 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:154 , 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	rs563837154	chr16:46419361-46419362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530887793	chr16:46419368-46419369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150713542	chr16:46419369-46419370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549036101	chr16:46419373-46419374	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560762576	chr16:46419380-46419381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61707030	chr16:46419381-46419382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528233234	chr16:46419390-46419391	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4967323	chr16:46419391-46419392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546877488	chr16:46419400-46419401	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs571450312	chr16:46419413-46419414	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs142421543	chr16:46419422-46419423	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs4966625	chr16:46419435-46419436	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs140106702	chr16:46419454-46419455	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs143797140	chr16:46419466-46419467	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs4967324	chr16:46419467-46419468	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs200407888	chr16:46419469-46419470	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs4967325	chr16:46419475-46419476	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs144862869	chr16:46419495-46419496	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs36192475	chr16:46419500-46419501	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs28888503	chr16:46419503-46419504	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs13334123	chr16:46419526-46419527	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs4967326	chr16:46419540-46419541	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs76801992	chr16:46419546-46419547	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs144676276	chr16:46419571-46419572	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs147615719	chr16:46419584-46419585	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs142216000	chr16:46419585-46419586	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs58670505	chr16:46419588-46419589	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs142201013	chr16:46419601-46419602	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs145928608	chr16:46419616-46419617	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs145658309	chr16:46419619-46419620	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs4490024	chr16:46419623-46419624	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs143454298	chr16:46419626-46419627	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs55769200	chr16:46419634-46419635	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs55771777	chr16:46419660-46419661	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs28795741	chr16:46419673-46419674	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs4471704	chr16:46419680-46419681	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs144724431	chr16:46419697-46419698	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs60919448	chr16:46419698-46419699	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs138585058	chr16:46419714-46419715	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs142183126	chr16:46419717-46419718	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs150871625	chr16:46419726-46419727	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs78901969	chr16:46419729-46419730	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs139420896	chr16:46419732-46419733	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs58950813	chr16:46419735-46419736	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs144237195	chr16:46419739-46419740	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs201986628	chr16:46419748-46419749	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs4471705	chr16:46419750-46419751	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs28812022	chr16:46419755-46419756	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs4967329	chr16:46419757-46419758	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs144615588	chr16:46419770-46419771	ZNF genes & repeats Bivalent Enhancer 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:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46421600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr16:46415200-46421600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:46416800-46420000	ZNF genes & repeats	Left Ventricle	heart
6	chr16:46416800-46420200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
7	chr16:46416800-46420200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
8	chr16:46416800-46420400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
9	chr16:46416800-46420400	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr16:46416800-46420600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr16:46416800-46420600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr16:46416800-46420800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr16:46416800-46421400	ZNF genes & repeats	Gastric	stomach
14	chr16:46416800-46421600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr16:46416800-46421600	ZNF genes & repeats	Liver	Liver
16	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr16:46416800-46421600	ZNF genes & repeats	Fetal Brain Male	brain
19	chr16:46416800-46421600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
20	chr16:46416800-46421800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr16:46417800-46419400	Weak transcription	NHEK	skin
24	chr16:46418600-46419400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr16:46418600-46419400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:46418600-46419400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr16:46418600-46419400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr16:46418600-46419400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr16:46418600-46419400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr16:46418600-46419400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr16:46418600-46419400	Weak transcription	Fetal Heart	heart
32	chr16:46418600-46419400	Weak transcription	Pancreas	Pancrea
33	chr16:46418600-46419400	Weak transcription	Psoas Muscle	Psoas
34	chr16:46418600-46419400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr16:46418600-46419400	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr16:46418600-46419400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr16:46418600-46419400	Weak transcription	Stomach Mucosa	stomach
38	chr16:46418600-46419400	Weak transcription	Hela-S3	cervix
39	chr16:46418600-46419400	Weak transcription	HUVEC	blood vessel
40	chr16:46418800-46419400	Weak transcription	Primary T cells from cord blood	blood
41	chr16:46419400-46419800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr16:46419400-46419800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
43	chr16:46419400-46419800	ZNF genes & repeats	Lung	lung
44	chr16:46419400-46419800	ZNF genes & repeats	HSMM	muscle
45	chr16:46419400-46420000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr16:46419400-46420000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:46419400-46420000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:46419400-46420000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:46419400-46420000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr16:46419400-46420000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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