Variant report

Variant	esv1850910
Chromosome Location	chr16:46402997-46499613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:46419232..46419882-chr2:89838516..89839016,2	MCF-7	breast:
2	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:
3	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:
4	chr16:46413428..46413948-chr16:46435017..46435528,2	MCF-7	breast:
5	chr16:46413431..46413941-chr16:46435012..46435522,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SHCBP1-4	chr16:46440726-46441360	ucscGeneNc_uc002eex_1
2	lnc-SHCBP1-4	chr16:46477853-46478542	ucscGeneNc_uc002eex_1

No data

Extended variants
information (count: 13843 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:13843 , 50 per page) page: 1 2 3 4 5 6 7 ... 277

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111069933	chr16:46402997-46402998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7199500	chr16:46402998-46402999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71251111	chr16:46402999-46403000	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59916434	chr16:46403004-46403005	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56656836	chr16:46403005-46403006	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7499138	chr16:46403006-46403007	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs56307408	chr16:46403010-46403011	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587718434	chr16:46403012-46403013	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587595536	chr16:46403013-46403014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs56095444	chr16:46403017-46403018	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56054589	chr16:46403019-46403020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs61069764	chr16:46403021-46403022	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60542147	chr16:46403026-46403027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57390426	chr16:46403028-46403029	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148078051	chr16:46403030-46403031	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57647123	chr16:46403039-46403040	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57169080	chr16:46403044-46403045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs57449967	chr16:46403054-46403055	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143062377	chr16:46403057-46403058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56361184	chr16:46403069-46403070	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587603910	chr16:46403071-46403072	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28823723	chr16:46403072-46403073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59495318	chr16:46403078-46403079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs140031597	chr16:46403090-46403091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28852158	chr16:46403091-46403092	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149790401	chr16:46403092-46403093	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9646349	chr16:46403095-46403096	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28765076	chr16:46403096-46403097	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142189781	chr16:46403104-46403105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28884021	chr16:46403109-46403110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28859710	chr16:46403110-46403111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56660694	chr16:46403117-46403118	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56235544	chr16:46403122-46403123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55820610	chr16:46403124-46403125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28789106	chr16:46403126-46403127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55897754	chr16:46403127-46403128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28855741	chr16:46403128-46403129	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56976807	chr16:46403129-46403130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs36161617	chr16:46403136-46403137	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8050220	chr16:46403137-46403138	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59435688	chr16:46403140-46403141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs8053616	chr16:46403141-46403142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28776521	chr16:46403143-46403144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs56834075	chr16:46403151-46403152	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4967074	chr16:46403152-46403153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4967075	chr16:46403154-46403155	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74773260	chr16:46403156-46403157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs61595340	chr16:46403161-46403162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs61517768	chr16:46403163-46403164	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs55968955	chr16:46403164-46403165	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:1979 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46385800-46404000	ZNF genes & repeats	Primary B cells from cord blood	blood
2	chr16:46389200-46404000	ZNF genes & repeats	Primary T cells from cord blood	blood
3	chr16:46389200-46404000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr16:46398000-46404000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr16:46398000-46414400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:46398000-46416000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr16:46398200-46404000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr16:46398200-46404000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:46398200-46404000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr16:46398200-46404000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr16:46398200-46404000	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr16:46398200-46404000	ZNF genes & repeats	Liver	Liver
13	chr16:46398200-46404000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr16:46398200-46404000	ZNF genes & repeats	Fetal Intestine Large	intestine
15	chr16:46398200-46404000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
16	chr16:46398200-46404000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr16:46398400-46404000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr16:46398400-46404000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr16:46398400-46404000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr16:46398400-46404000	ZNF genes & repeats	HMEC	breast
21	chr16:46400600-46404000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:46400800-46404000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:46401000-46404000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
24	chr16:46401000-46404000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr16:46401000-46404000	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr16:46401000-46404000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
27	chr16:46401800-46403200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:46401800-46403200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:46401800-46403200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr16:46401800-46403200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:46401800-46403200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr16:46401800-46403200	Weak transcription	Brain Angular Gyrus	brain
33	chr16:46401800-46403200	Weak transcription	Brain Substantia Nigra	brain
34	chr16:46401800-46403200	Weak transcription	Esophagus	oesophagus
35	chr16:46401800-46403200	Weak transcription	Fetal Kidney	kidney
36	chr16:46401800-46403200	Weak transcription	Lung	lung
37	chr16:46401800-46403200	Weak transcription	Right Ventricle	heart
38	chr16:46401800-46403200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr16:46401800-46403200	Weak transcription	GM12878-XiMat	blood
40	chr16:46401800-46403200	Weak transcription	K562	blood
41	chr16:46401800-46403200	Weak transcription	NHLF	lung
42	chr16:46401800-46403400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:46401800-46403400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr16:46401800-46403400	Weak transcription	NHDF-Ad	bronchial
45	chr16:46401800-46403400	Weak transcription	NHEK	skin
46	chr16:46402000-46403200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:46402000-46403200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr16:46402000-46403200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr16:46402000-46403200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:46402000-46403200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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