Variant report

Variant	esv1816593
Chromosome Location	chr16:46450552-46500451
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHCBP1-4	chr16:46477853-46478542	ucscGeneNc_uc002eex_1

Extended variants
information (count: 3046 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:3046 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9937646	chr16:46450552-46450553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs557513991	chr16:46450556-46450557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs567743764	chr16:46450557-46450558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs74700249	chr16:46450572-46450573	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs371331444	chr16:46450581-46450582	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs74917155	chr16:46450582-46450583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374300633	chr16:46450583-46450584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs79578463	chr16:46450586-46450587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575762616	chr16:46450592-46450593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs77432029	chr16:46450609-46450610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542855488	chr16:46450612-46450613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145419711	chr16:46450631-46450632	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200053208	chr16:46450634-46450635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201021586	chr16:46450635-46450636	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561059028	chr16:46450644-46450645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74655762	chr16:46450646-46450647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76507294	chr16:46450647-46450648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78114212	chr16:46450653-46450654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79833145	chr16:46450654-46450655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141694563	chr16:46450665-46450666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573119496	chr16:46450670-46450671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75143423	chr16:46450676-46450677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113217839	chr16:46450679-46450680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377305500	chr16:46450682-46450683	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78959530	chr16:46450686-46450687	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540141058	chr16:46450690-46450691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75442901	chr16:46450697-46450698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80028961	chr16:46450701-46450702	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78520192	chr16:46450702-46450703	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78711802	chr16:46450712-46450713	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76302733	chr16:46450718-46450719	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377593189	chr16:46450721-46450722	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201083682	chr16:46450722-46450723	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565150033	chr16:46450726-46450727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202235635	chr16:46450727-46450728	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75893909	chr16:46450728-46450729	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116758225	chr16:46450732-46450733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144764940	chr16:46450737-46450738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114960136	chr16:46450742-46450743	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111095742	chr16:46450743-46450744	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76655816	chr16:46450746-46450747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75637904	chr16:46450747-46450748	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78310817	chr16:46450748-46450749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77384243	chr16:46450755-46450756	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550111089	chr16:46450759-46450760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562251115	chr16:46450763-46450764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76442060	chr16:46450764-46450765	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75671017	chr16:46450768-46450769	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78066392	chr16:46450774-46450775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372149627	chr16:46450776-46450777	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:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46431200-46456000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr16:46431200-46456200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:46431200-46456200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
4	chr16:46431200-46456400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr16:46431200-46456400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr16:46431200-46456400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr16:46431200-46456400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr16:46431200-46456400	ZNF genes & repeats	Liver	Liver
9	chr16:46431200-46456400	ZNF genes & repeats	HUVEC	blood vessel
10	chr16:46431200-46456600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:46431200-46456600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr16:46431200-46456600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
13	chr16:46434200-46456200	ZNF genes & repeats	Fetal Brain Male	brain
14	chr16:46434200-46456800	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr16:46434400-46451800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr16:46434400-46452200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:46434600-46456000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
18	chr16:46434600-46456200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
19	chr16:46434600-46456200	ZNF genes & repeats	Fetal Heart	heart
20	chr16:46434600-46456400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:46434600-46456400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr16:46434600-46456400	ZNF genes & repeats	Fetal Lung	lung
23	chr16:46434800-46456600	ZNF genes & repeats	HepG2	liver
24	chr16:46435400-46456000	ZNF genes & repeats	K562	blood
25	chr16:46437800-46452800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
26	chr16:46446600-46456000	ZNF genes & repeats	GM12878-XiMat	blood
27	chr16:46447200-46456400	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr16:46448200-46450800	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr16:46448200-46455600	ZNF genes & repeats	Brain Angular Gyrus	brain
30	chr16:46448200-46455800	ZNF genes & repeats	Brain Substantia Nigra	brain
31	chr16:46448400-46450600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
32	chr16:46448400-46450600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
33	chr16:46448400-46450600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
34	chr16:46448400-46453000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr16:46449000-46456200	ZNF genes & repeats	Brain Hippocampus Middle	brain
36	chr16:46450200-46450600	ZNF genes & repeats	Stomach Mucosa	stomach
37	chr16:46450400-46453000	ZNF genes & repeats	Dnd41	blood
38	chr16:46450600-46452200	Weak transcription	Stomach Mucosa	stomach
39	chr16:46451000-46452800	ZNF genes & repeats	Aorta	Aorta
40	chr16:46451000-46454000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr16:46451200-46456200	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr16:46451400-46456200	ZNF genes & repeats	Fetal Kidney	kidney
43	chr16:46451800-46452800	ZNF genes & repeats	NH-A	brain
44	chr16:46452200-46452400	ZNF genes & repeats	Stomach Mucosa	stomach
45	chr16:46452200-46454000	ZNF genes & repeats	Colon Smooth Muscle	Colon
46	chr16:46452200-46456200	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr16:46452800-46455600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
48	chr16:46454000-46455400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
49	chr16:46454000-46455800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
50	chr16:46454600-46456200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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