Variant report

Variant	esv3517188
Chromosome Location	chr16:46417630-46427119
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: 1967 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1967 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575952061	chr16:46417633-46417634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61021629	chr16:46417634-46417635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543402631	chr16:46417637-46417638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62024209	chr16:46417642-46417643	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551440514	chr16:46417649-46417650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528941959	chr16:46417650-46417651	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547060675	chr16:46417654-46417655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560330115	chr16:46417657-46417658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77538461	chr16:46417665-46417666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527838123	chr16:46417671-46417672	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201186476	chr16:46417672-46417673	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552595079	chr16:46417674-46417675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571117791	chr16:46417676-46417677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79744915	chr16:46417682-46417683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187929835	chr16:46417700-46417701	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62024210	chr16:46417712-46417713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537891724	chr16:46417713-46417714	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550131639	chr16:46417715-46417716	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62024211	chr16:46417726-46417727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2128467	chr16:46417743-46417744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62024212	chr16:46417754-46417755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79594585	chr16:46417769-46417770	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373017727	chr16:46417786-46417787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140879733	chr16:46417787-46417788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377664903	chr16:46417788-46417789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146560603	chr16:46417791-46417792	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200613140	chr16:46417796-46417797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62024213	chr16:46417806-46417807	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62024214	chr16:46417812-46417813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62024215	chr16:46417819-46417820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374032159	chr16:46417824-46417825	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202206874	chr16:46417840-46417841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377584615	chr16:46417842-46417843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369248655	chr16:46417843-46417844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539574395	chr16:46417850-46417851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373190189	chr16:46417851-46417852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576277760	chr16:46417892-46417893	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543086096	chr16:46417894-46417895	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554963070	chr16:46417913-46417914	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573265760	chr16:46417915-46417916	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540736177	chr16:46417918-46417919	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13338240	chr16:46417920-46417921	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558975398	chr16:46417922-46417923	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527923837	chr16:46417943-46417944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546365493	chr16:46417944-46417945	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564659581	chr16:46417945-46417946	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532007837	chr16:46417948-46417949	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62024216	chr16:46417963-46417964	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568483331	chr16:46417986-46417987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376166433	chr16:46417991-46417992	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:365 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46418800	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr16:46404800-46421600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr16:46413600-46417800	ZNF genes & repeats	HMEC	breast
5	chr16:46415200-46417800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:46415200-46418600	ZNF genes & repeats	Primary B cells from cord blood	blood
7	chr16:46415200-46421600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr16:46416800-46417800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:46416800-46417800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:46416800-46417800	ZNF genes & repeats	Ovary	ovary
12	chr16:46416800-46417800	ZNF genes & repeats	A549	lung
13	chr16:46416800-46417800	ZNF genes & repeats	Dnd41	blood
14	chr16:46416800-46417800	ZNF genes & repeats	GM12878-XiMat	blood
15	chr16:46416800-46417800	ZNF genes & repeats	HSMMtube	muscle
16	chr16:46416800-46417800	ZNF genes & repeats	NH-A	brain
17	chr16:46416800-46417800	ZNF genes & repeats	NHEK	skin
18	chr16:46416800-46417800	ZNF genes & repeats	NHLF	lung
19	chr16:46416800-46417800	ZNF genes & repeats	Osteobl	bone
20	chr16:46416800-46418000	ZNF genes & repeats	Aorta	Aorta
21	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:46416800-46418600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
25	chr16:46416800-46418600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:46416800-46418600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
27	chr16:46416800-46418600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr16:46416800-46418600	ZNF genes & repeats	Fetal Heart	heart
29	chr16:46416800-46418600	ZNF genes & repeats	Psoas Muscle	Psoas
30	chr16:46416800-46418600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
31	chr16:46416800-46418600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
32	chr16:46416800-46418600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr16:46416800-46418600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
34	chr16:46416800-46418600	ZNF genes & repeats	Stomach Mucosa	stomach
35	chr16:46416800-46418600	ZNF genes & repeats	Hela-S3	cervix
36	chr16:46416800-46418600	ZNF genes & repeats	HUVEC	blood vessel
37	chr16:46416800-46420000	ZNF genes & repeats	Left Ventricle	heart
38	chr16:46416800-46420200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
39	chr16:46416800-46420200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr16:46416800-46420400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
41	chr16:46416800-46420400	ZNF genes & repeats	Colon Smooth Muscle	Colon
42	chr16:46416800-46420600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr16:46416800-46420600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
44	chr16:46416800-46420800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr16:46416800-46421400	ZNF genes & repeats	Gastric	stomach
46	chr16:46416800-46421600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr16:46416800-46421600	ZNF genes & repeats	Liver	Liver
48	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr16:46416800-46421600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
50	chr16:46416800-46421600	ZNF genes & repeats	Fetal Brain Male	brain

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