Variant report

Variant	esv3340969
Chromosome Location	chr16:46434414-46454518
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: 4131 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:4131 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28815770	chr16:46434415-46434416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs7500725	chr16:46434416-46434417	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs138427595	chr16:46434424-46434425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs9928963	chr16:46434425-46434426	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs144762972	chr16:46434441-46434442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28873679	chr16:46434454-46434455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28839867	chr16:46434459-46434460	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs28783734	chr16:46434461-46434462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs57241387	chr16:46434470-46434471	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113427804	chr16:46434474-46434475	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs55717635	chr16:46434475-46434476	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112839630	chr16:46434476-46434477	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6598764	chr16:46434485-46434486	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79415538	chr16:46434488-46434489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111679663	chr16:46434489-46434490	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs28817581	chr16:46434493-46434494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs55725905	chr16:46434505-46434506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs57786159	chr16:46434507-46434508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs60677246	chr16:46434508-46434509	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs6422112	chr16:46434516-46434517	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs13330252	chr16:46434521-46434522	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs28891137	chr16:46434523-46434524	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs4967553	chr16:46434524-46434525	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs57969013	chr16:46434528-46434529	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs28799995	chr16:46434530-46434531	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs146150094	chr16:46434535-46434536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs28844104	chr16:46434536-46434537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs60518211	chr16:46434537-46434538	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs79634015	chr16:46434542-46434543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs60686847	chr16:46434549-46434550	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs11859392	chr16:46434560-46434561	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs59481437	chr16:46434562-46434563	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs9746130	chr16:46434567-46434568	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs57853645	chr16:46434568-46434569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs60443113	chr16:46434580-46434581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs60609785	chr16:46434588-46434589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs60812900	chr16:46434594-46434595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs59366480	chr16:46434606-46434607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371874086	chr16:46434611-46434612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7198480	chr16:46434617-46434618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7202419	chr16:46434618-46434619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572797320	chr16:46434619-46434620	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546484626	chr16:46434620-46434621	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7404832	chr16:46434628-46434629	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4967555	chr16:46434632-46434633	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28873457	chr16:46434634-46434635	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77104926	chr16:46434636-46434637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139288544	chr16:46434652-46434653	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61161028	chr16:46434653-46434654	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55666331	chr16:46434654-46434655	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:232 , 50 per page) page: 1 2 3 4 5

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	chr16:46433000-46434600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:46433000-46434600	Weak transcription	Pancreas	Pancrea
21	chr16:46433000-46434800	Weak transcription	Thymus	Thymus
22	chr16:46433000-46435400	Weak transcription	Lung	lung
23	chr16:46433800-46434600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:46433800-46434600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:46433800-46434600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:46433800-46434600	Weak transcription	Fetal Heart	heart
27	chr16:46433800-46434800	Weak transcription	Stomach Mucosa	stomach
28	chr16:46434200-46435800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr16:46434200-46456200	ZNF genes & repeats	Fetal Brain Male	brain
30	chr16:46434200-46456800	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr16:46434400-46436200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr16:46434400-46438400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
33	chr16:46434400-46451800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr16:46434400-46452200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:46434600-46435800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr16:46434600-46435800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:46434600-46435800	ZNF genes & repeats	Pancreas	Pancrea
38	chr16:46434600-46436000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:46434600-46436000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
40	chr16:46434600-46436000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
41	chr16:46434600-46436000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr16:46434600-46436000	ZNF genes & repeats	Colon Smooth Muscle	Colon
43	chr16:46434600-46436000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr16:46434600-46436200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr16:46434600-46436400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr16:46434600-46436400	ZNF genes & repeats	Brain Anterior Caudate	brain
47	chr16:46434600-46439800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
48	chr16:46434600-46440600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
49	chr16:46434600-46445400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
50	chr16:46434600-46456000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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