Variant report

Variant	esv3379359
Chromosome Location	chr16:46429682-46453188
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: 4814 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4814 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55688612	chr16:46429686-46429687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112686271	chr16:46429699-46429700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs113743892	chr16:46429702-46429703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147645387	chr16:46429717-46429718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2128475	chr16:46429735-46429736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs567759179	chr16:46429746-46429747	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs4967370	chr16:46429759-46429760	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs36134660	chr16:46429777-46429778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112168674	chr16:46429816-46429817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs7500071	chr16:46429833-46429834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs60024433	chr16:46429840-46429841	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs28869612	chr16:46429843-46429844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28883652	chr16:46429849-46429850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7501175	chr16:46429854-46429855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs7499488	chr16:46429855-46429856	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs77914216	chr16:46429953-46429954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs76047286	chr16:46429954-46429955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs75718254	chr16:46429959-46429960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs78550540	chr16:46429962-46429963	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76148234	chr16:46429964-46429965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs78417921	chr16:46429966-46429967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs535214425	chr16:46429975-46429976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs79071312	chr16:46429977-46429978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs79122935	chr16:46429978-46429979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs148322524	chr16:46429993-46429994	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs185139075	chr16:46429997-46429998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs72483758	chr16:46430000-46430001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79210759	chr16:46430001-46430002	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189651597	chr16:46430003-46430004	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56117950	chr16:46430005-46430006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377635113	chr16:46430006-46430007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7500880	chr16:46430017-46430018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200095355	chr16:46430025-46430026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4966636	chr16:46430099-46430100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4967372	chr16:46430117-46430118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76972048	chr16:46430120-46430121	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547018627	chr16:46430123-46430124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4967373	chr16:46430171-46430172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571592767	chr16:46430176-46430177	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2128464	chr16:46430189-46430190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55938231	chr16:46430200-46430201	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369204443	chr16:46430204-46430205	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79201544	chr16:46430219-46430220	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538674152	chr16:46430238-46430239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56092265	chr16:46430291-46430292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55701343	chr16:46430312-46430313	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55747015	chr16:46430331-46430332	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56398791	chr16:46430360-46430361	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556956412	chr16:46430413-46430414	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs368284904	chr16:46430424-46430425	Weak transcription ZNF genes & repeats	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:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr16:46423200-46430400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr16:46423200-46430400	ZNF genes & repeats	Fetal Brain Male	brain
18	chr16:46423200-46430400	ZNF genes & repeats	Fetal Heart	heart
19	chr16:46423200-46430400	ZNF genes & repeats	Fetal Lung	lung
20	chr16:46423200-46430400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
21	chr16:46423200-46430400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr16:46424400-46430400	ZNF genes & repeats	HMEC	breast
23	chr16:46424600-46430200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr16:46424600-46430200	ZNF genes & repeats	Brain Hippocampus Middle	brain
25	chr16:46424600-46430400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
26	chr16:46424800-46430200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
27	chr16:46425000-46430200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr16:46425200-46430200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:46425200-46430200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
30	chr16:46425200-46430200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
31	chr16:46425200-46430200	ZNF genes & repeats	A549	lung
32	chr16:46425200-46430200	ZNF genes & repeats	Dnd41	blood
33	chr16:46425200-46430400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:46425200-46430400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:46425200-46430400	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr16:46425200-46430400	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr16:46425200-46430400	ZNF genes & repeats	Fetal Kidney	kidney
38	chr16:46425200-46430400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr16:46425200-46430400	ZNF genes & repeats	HUVEC	blood vessel
40	chr16:46425200-46430600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
41	chr16:46425400-46430200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:46425400-46430200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
43	chr16:46425400-46430200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr16:46425400-46430200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
45	chr16:46425400-46430400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:46425400-46430400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:46425400-46430400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
48	chr16:46425400-46430400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr16:46427200-46430200	ZNF genes & repeats	Fetal Brain Female	brain
50	chr16:46428800-46429800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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