Variant report

Variant	esv1823901
Chromosome Location	chr16:46426950-46450552
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	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:
2	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHCBP1-4	chr16:46440726-46441360	ucscGeneNc_uc002eex_1

Extended variants
information (count: 4674 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4674 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145757002	chr16:46426970-46426971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62021657	chr16:46426986-46426987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74205112	chr16:46427005-46427006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79391718	chr16:46427007-46427008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77705364	chr16:46427017-46427018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74421846	chr16:46427018-46427019	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111711581	chr16:46427021-46427022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74906859	chr16:46427026-46427027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145921422	chr16:46427033-46427034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71279335	chr16:46427034-46427035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77355484	chr16:46427047-46427048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78005743	chr16:46427052-46427053	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74220784	chr16:46427055-46427056	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141399485	chr16:46427064-46427065	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78698194	chr16:46427075-46427076	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77760205	chr16:46427079-46427080	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75376644	chr16:46427090-46427091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71279334	chr16:46427108-46427109	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74183908	chr16:46427111-46427112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368918978	chr16:46427112-46427113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111318221	chr16:46427117-46427118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62021658	chr16:46427127-46427128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111792749	chr16:46427133-46427134	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4315496	chr16:46427140-46427141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138578560	chr16:46427162-46427163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142175239	chr16:46427174-46427175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139677350	chr16:46427176-46427177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146355617	chr16:46427210-46427211	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111843675	chr16:46427219-46427220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555662254	chr16:46427220-46427221	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567810121	chr16:46427223-46427224	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28796904	chr16:46427224-46427225	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144388338	chr16:46427238-46427239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535015326	chr16:46427243-46427244	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553580776	chr16:46427245-46427246	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4009061	chr16:46427249-46427250	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142263781	chr16:46427254-46427255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577659513	chr16:46427262-46427263	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150858263	chr16:46427270-46427271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6598737	chr16:46427284-46427285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36170554	chr16:46427288-46427289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71239145	chr16:46427297-46427298	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538637863	chr16:46427299-46427300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71267728	chr16:46427318-46427319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78286003	chr16:46427320-46427321	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34759434	chr16:46427327-46427328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4967529	chr16:46427341-46427342	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58734087	chr16:46427351-46427352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149970214	chr16:46427356-46427357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4263086	chr16:46427360-46427361	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:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46404800-46430400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr16:46415200-46430400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr16:46416800-46430400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr16:46416800-46430400	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
6	chr16:46422200-46430400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:46422800-46430400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr16:46422800-46430400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr16:46423000-46430000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr16:46423000-46430400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:46423000-46430400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr16:46423000-46430400	ZNF genes & repeats	Liver	Liver
13	chr16:46423000-46430400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr16:46423000-46430400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
15	chr16:46423000-46433200	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr16:46423200-46428200	ZNF genes & repeats	Colon Smooth Muscle	Colon
17	chr16:46423200-46430400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr16:46423200-46430400	ZNF genes & repeats	Fetal Brain Male	brain
19	chr16:46423200-46430400	ZNF genes & repeats	Fetal Heart	heart
20	chr16:46423200-46430400	ZNF genes & repeats	Fetal Lung	lung
21	chr16:46423200-46430400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr16:46423200-46430400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr16:46424400-46430400	ZNF genes & repeats	HMEC	breast
24	chr16:46424600-46428200	ZNF genes & repeats	Left Ventricle	heart
25	chr16:46424600-46429200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr16:46424600-46430200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr16:46424600-46430200	ZNF genes & repeats	Brain Hippocampus Middle	brain
28	chr16:46424600-46430400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
29	chr16:46424800-46430200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr16:46425000-46428000	ZNF genes & repeats	Gastric	stomach
31	chr16:46425000-46430200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr16:46425200-46428000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
33	chr16:46425200-46428000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
34	chr16:46425200-46428000	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr16:46425200-46428000	ZNF genes & repeats	HSMMtube	muscle
36	chr16:46425200-46428000	ZNF genes & repeats	Osteobl	bone
37	chr16:46425200-46428200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:46425200-46428200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr16:46425200-46428200	ZNF genes & repeats	NH-A	brain
40	chr16:46425200-46428400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
41	chr16:46425200-46428600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
42	chr16:46425200-46428600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr16:46425200-46430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
44	chr16:46425200-46430200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
45	chr16:46425200-46430200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
46	chr16:46425200-46430200	ZNF genes & repeats	A549	lung
47	chr16:46425200-46430200	ZNF genes & repeats	Dnd41	blood
48	chr16:46425200-46430400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:46425200-46430400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr16:46425200-46430400	ZNF genes & repeats	Brain Anterior Caudate	brain

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