Variant report

Variant	nsv600082
Chromosome Location	chr5:151516086-151524210
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:151303110..151303991-chr5:151522441..151523040,2	MCF-7	breast:
2	chr5:151523917..151524489-chr5:151572860..151573489,2	MCF-7	breast:
3	chr5:151509815..151512281-chr5:151517345..151519719,2	MCF-7	breast:
4	chr5:151522076..151522840-chr5:151650800..151651429,3	MCF-7	breast:
5	chr5:151523874..151524433-chr5:151668425..151669088,2	MCF-7	breast:
6	chr5:151204736..151205618-chr5:151521905..151522989,3	MCF-7	breast:
7	chr5:151204595..151205535-chr5:151522142..151523020,2	K562	blood:
8	chr5:151160169..151163153-chr5:151522448..151524598,2	K562	blood:
9	chr5:151520907..151523004-chr5:151546531..151548901,2	K562	blood:
10	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
11	chr5:151522014..151522696-chr5:151729134..151730175,3	MCF-7	breast:
12	chr5:151204677..151205872-chr5:151522532..151523052,3	MCF-7	breast:
13	chr5:151522783..151523283-chr8:54673594..54674407,2	NB4	blood:
14	chr5:151513671..151516215-chr5:151517705..151520059,3	K562	blood:
15	chr5:151303407..151303946-chr5:151522386..151523026,2	MCF-7	breast:
16	chr5:151523886..151524850-chr5:151572559..151573494,21	MCF-7	breast:
17	chr5:151302299..151302849-chr5:151522311..151522997,2	MCF-7	breast:
18	chr5:151523879..151524822-chr5:151665463..151666473,3	MCF-7	breast:
19	chr5:151523912..151524811-chr5:151568652..151569394,2	MCF-7	breast:
20	chr5:151523874..151524765-chr5:151668143..151669088,3	MCF-7	breast:
21	chr5:151523925..151524850-chr5:151572610..151573431,6	MCF-7	breast:
22	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:
23	chr5:151523242..151525301-chr5:151526406..151528109,3	MCF-7	breast:
24	chr5:151513919..151516215-chr5:151517657..151519224,2	K562	blood:

No data

Extended variants
information (count: 289 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6871187	chr5:151516086-151516087	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529794954	chr5:151516095-151516096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73274935	chr5:151516141-151516142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs29823	chr5:151516156-151516157	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566432514	chr5:151516270-151516271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527602483	chr5:151516275-151516276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191634520	chr5:151516284-151516285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184894877	chr5:151516292-151516293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544633436	chr5:151516332-151516333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78069876	chr5:151516358-151516359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555925844	chr5:151516386-151516387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569037165	chr5:151516402-151516403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190187693	chr5:151516410-151516411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554558282	chr5:151516413-151516414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548811140	chr5:151516447-151516448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372951372	chr5:151516459-151516460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs75414709	chr5:151516545-151516546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73274941	chr5:151516611-151516612	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577456938	chr5:151516631-151516632	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs29822	chr5:151516652-151516653	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563046126	chr5:151516706-151516707	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs39803	chr5:151516788-151516789	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs541909224	chr5:151516818-151516819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74342959	chr5:151516824-151516825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527328761	chr5:151516882-151516883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551877063	chr5:151516912-151516913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570759727	chr5:151516927-151516928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531480319	chr5:151516961-151516962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541604606	chr5:151516969-151516970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs39802	chr5:151516973-151516974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs141306365	chr5:151516983-151516984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112031953	chr5:151517016-151517017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5872251	chr5:151517017-151517018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536356576	chr5:151517059-151517060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56261354	chr5:151517073-151517074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375770646	chr5:151517143-151517144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72804325	chr5:151517192-151517193	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144758445	chr5:151517194-151517195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558662479	chr5:151517204-151517205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577490683	chr5:151517238-151517239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546027242	chr5:151517326-151517327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551478120	chr5:151517351-151517352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556808039	chr5:151517376-151517377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192939145	chr5:151517405-151517406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542440106	chr5:151517406-151517407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560234760	chr5:151517420-151517421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373241937	chr5:151517435-151517436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570213016	chr5:151517542-151517543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572032287	chr5:151517551-151517552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545812510	chr5:151517553-151517554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:151515000-151518200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr5:151516000-151516800	Enhancers	Fetal Lung	lung
3	chr5:151516200-151517200	Enhancers	Brain Hippocampus Middle	brain
4	chr5:151516400-151518600	Enhancers	Ovary	ovary
5	chr5:151516600-151516800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:151516600-151516800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr5:151516600-151518000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:151517600-151518200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:151518200-151518600	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:151518600-151531200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr5:151519400-151520400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:151521000-151522400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:151522000-151522800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:151522600-151524400	Enhancers	Stomach Mucosa	stomach
15	chr5:151523600-151524800	Enhancers	Placenta	Placenta
16	chr5:151524000-151524800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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