Variant report

Variant	nsv103457
Chromosome Location	chr16:46434929-46443317
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	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:
2	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:

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

Extended variants
information (count: 1961 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1961 , 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	rs28789459	chr16:46434942-46434943	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11533758	chr16:46434950-46434951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141917596	chr16:46434953-46434954	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201600163	chr16:46434957-46434958	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147270477	chr16:46434960-46434961	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373662433	chr16:46434964-46434965	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28850700	chr16:46434973-46434974	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555470733	chr16:46434978-46434979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113352983	chr16:46434979-46434980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4967562	chr16:46434991-46434992	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567225923	chr16:46435000-46435001	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6598768	chr16:46435007-46435008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28839213	chr16:46435008-46435009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139599506	chr16:46435019-46435020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28869894	chr16:46435023-46435024	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28780742	chr16:46435037-46435038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28890473	chr16:46435045-46435046	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149667372	chr16:46435050-46435051	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28867510	chr16:46435056-46435057	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111293469	chr16:46435060-46435061	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28892305	chr16:46435073-46435074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186936176	chr16:46435080-46435081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554087308	chr16:46435081-46435082	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572629735	chr16:46435082-46435083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28887908	chr16:46435085-46435086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4483884	chr16:46435086-46435087	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28855153	chr16:46435096-46435097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7191953	chr16:46435097-46435098	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150429624	chr16:46435100-46435101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28768801	chr16:46435102-46435103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28892409	chr16:46435108-46435109	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28796702	chr16:46435111-46435112	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4316781	chr16:46435112-46435113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28835012	chr16:46435113-46435114	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28818918	chr16:46435116-46435117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28852456	chr16:46435118-46435119	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28888815	chr16:46435125-46435126	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10221067	chr16:46435126-46435127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9708385	chr16:46435132-46435133	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13339047	chr16:46435139-46435140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs79765302	chr16:46435144-46435145	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76087681	chr16:46435150-46435151	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75957322	chr16:46435151-46435152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79948253	chr16:46435153-46435154	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77008623	chr16:46435162-46435163	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7192117	chr16:46435163-46435164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141361642	chr16:46435164-46435165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28834085	chr16:46435167-46435168	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28848620	chr16:46435175-46435176	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13331472	chr16:46435176-46435177	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:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46419800-46444400	ZNF genes & repeats	Primary T cells from cord blood	blood
2	chr16:46431200-46435800	ZNF genes & repeats	Hela-S3	cervix
3	chr16:46431200-46436000	ZNF genes & repeats	NH-A	brain
4	chr16:46431200-46444800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
5	chr16:46431200-46445000	ZNF genes & repeats	Dnd41	blood
6	chr16:46431200-46447000	ZNF genes & repeats	HMEC	breast
7	chr16:46431200-46456000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr16:46431200-46456200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:46431200-46456200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr16:46431200-46456400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr16:46431200-46456400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr16:46431200-46456400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr16:46431200-46456400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr16:46431200-46456400	ZNF genes & repeats	Liver	Liver
15	chr16:46431200-46456400	ZNF genes & repeats	HUVEC	blood vessel
16	chr16:46431200-46456600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr16:46431200-46456600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr16:46431200-46456600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
19	chr16:46433000-46435400	Weak transcription	Lung	lung
20	chr16:46434200-46435800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
21	chr16:46434200-46456200	ZNF genes & repeats	Fetal Brain Male	brain
22	chr16:46434200-46456800	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr16:46434400-46436200	ZNF genes & repeats	Primary B cells from cord blood	blood
24	chr16:46434400-46438400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
25	chr16:46434400-46451800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
26	chr16:46434400-46452200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:46434600-46435800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr16:46434600-46435800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:46434600-46435800	ZNF genes & repeats	Pancreas	Pancrea
30	chr16:46434600-46436000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:46434600-46436000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
32	chr16:46434600-46436000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr16:46434600-46436000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr16:46434600-46436000	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr16:46434600-46436000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
36	chr16:46434600-46436200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
37	chr16:46434600-46436400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
38	chr16:46434600-46436400	ZNF genes & repeats	Brain Anterior Caudate	brain
39	chr16:46434600-46439800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr16:46434600-46440600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
41	chr16:46434600-46445400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
42	chr16:46434600-46456000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr16:46434600-46456200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
44	chr16:46434600-46456200	ZNF genes & repeats	Fetal Heart	heart
45	chr16:46434600-46456400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:46434600-46456400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr16:46434600-46456400	ZNF genes & repeats	Fetal Lung	lung
48	chr16:46434800-46435800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
49	chr16:46434800-46435800	ZNF genes & repeats	Spleen	Spleen
50	chr16:46434800-46436000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood

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