Variant report

Variant	nsv1016184
Chromosome Location	chr5:59199687-59251169
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:59196889..59199265-chr5:59202553..59204106,2	K562	blood:
2	chr5:59204919..59207898-chr5:59228269..59230906,2	K562	blood:
3	chr5:59235055..59237552-chr5:59238015..59240745,2	MCF-7	breast:
4	chr5:59200694..59202492-chr5:59202727..59205702,2	K562	blood:
5	chr5:59235055..59237552-chr5:59238015..59240745,2	MCF-7	breast:
6	chr5:59204919..59207898-chr5:59228269..59230906,2	K562	blood:
7	chr5:59109451..59110017-chr5:59219079..59219734,2	MCF-7	breast:
8	chr5:59200694..59202492-chr5:59202727..59205702,2	K562	blood:

No data

Extended variants
information (count: 1663 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1663 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550891874	chr5:59199712-59199713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76425512	chr5:59199733-59199734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73099570	chr5:59199751-59199752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553672391	chr5:59199982-59199983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572094860	chr5:59200009-59200010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534280413	chr5:59200011-59200012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145538090	chr5:59200028-59200029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574443326	chr5:59200040-59200041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543628378	chr5:59200069-59200070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536958039	chr5:59200088-59200089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563125714	chr5:59200101-59200102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577494622	chr5:59200145-59200146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576592537	chr5:59200146-59200147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553350806	chr5:59200158-59200159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185757086	chr5:59200167-59200168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545713444	chr5:59200190-59200191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573401696	chr5:59200208-59200209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559176782	chr5:59200220-59200221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538829954	chr5:59200235-59200236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528495259	chr5:59200247-59200248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548282931	chr5:59200267-59200268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191940560	chr5:59200323-59200324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530888837	chr5:59200327-59200328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369739488	chr5:59200338-59200339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551232431	chr5:59200364-59200365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571074653	chr5:59200376-59200377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372671459	chr5:59200414-59200415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540013785	chr5:59200425-59200426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373907001	chr5:59200436-59200437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547323561	chr5:59200461-59200462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148400534	chr5:59200501-59200502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534658487	chr5:59200542-59200543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554243017	chr5:59200551-59200552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111979741	chr5:59200580-59200581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574508216	chr5:59200615-59200616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182882634	chr5:59200670-59200671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186751508	chr5:59200671-59200672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142528751	chr5:59200720-59200721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545553696	chr5:59200789-59200790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150024778	chr5:59200814-59200815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369461588	chr5:59200823-59200824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79895746	chr5:59200944-59200945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151111426	chr5:59201007-59201008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142612294	chr5:59201017-59201018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs78313009	chr5:59201090-59201091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575793123	chr5:59201097-59201098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544657069	chr5:59201111-59201112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563163268	chr5:59201120-59201121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555082407	chr5:59201124-59201125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564527432	chr5:59201137-59201138	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59193000-59200800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:59200800-59201200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:59201200-59202000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:59201200-59202200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:59202200-59202400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr5:59206400-59278800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:59209000-59210600	Weak transcription	Aorta	Aorta
8	chr5:59210600-59210800	Enhancers	Aorta	Aorta
9	chr5:59215000-59215600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:59215000-59215600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:59215000-59215800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:59215200-59215600	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:59215600-59218200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:59216400-59216800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:59216800-59217200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:59217000-59218600	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:59217200-59218600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:59217400-59218200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:59217400-59218800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr5:59217400-59218800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr5:59217600-59218200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:59217600-59218600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:59217800-59218400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr5:59217800-59218400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr5:59217800-59218400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:59217800-59218600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr5:59217800-59218600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr5:59217800-59219000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:59218000-59218400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr5:59218200-59218600	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:59218200-59218600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:59218200-59218800	Enhancers	Adipose Nuclei	Adipose
33	chr5:59218400-59219200	Enhancers	Hela-S3	cervix
34	chr5:59218600-59219400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:59219400-59221000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:59223200-59223800	Enhancers	Fetal Brain Male	brain
37	chr5:59223200-59224000	Enhancers	Brain Germinal Matrix	brain
38	chr5:59223600-59224000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:59232200-59232800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:59232600-59232800	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr5:59232600-59233400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:59237600-59238800	Enhancers	Adipose Nuclei	Adipose
43	chr5:59238400-59242800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:59238800-59239600	Weak transcription	Adipose Nuclei	Adipose
45	chr5:59239400-59239800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:59239400-59240000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr5:59239400-59240000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr5:59239600-59239800	Active TSS	Duodenum Mucosa	Duodenum
49	chr5:59239600-59240000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:59239600-59240000	Enhancers	Adipose Nuclei	Adipose

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