Variant report

Variant	nsv599492
Chromosome Location	chr5:117299721-117331544
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	chr5:117329526..117331412-chr5:117334401..117335958,2	MCF-7	breast:
2	chr5:117326789..117327367-chr5:117345464..117346258,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL1-4	chr5:117331303-117331432	XLOC_004524

Extended variants
information (count: 467 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10519530	chr5:117299721-117299722	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76781805	chr5:117299723-117299724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569452018	chr5:117299737-117299738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553376035	chr5:117299741-117299742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6863034	chr5:117299765-117299766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542312465	chr5:117299782-117299783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555641717	chr5:117299796-117299797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76613957	chr5:117299815-117299816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148325623	chr5:117299846-117299847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192126314	chr5:117299847-117299848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577957705	chr5:117299932-117299933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17414565	chr5:117299973-117299974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs589331	chr5:117300007-117300008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141446703	chr5:117300025-117300026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549075855	chr5:117300041-117300042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562513038	chr5:117300044-117300045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531510833	chr5:117300049-117300050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375767814	chr5:117300058-117300059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551638750	chr5:117300062-117300063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571559144	chr5:117300112-117300113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534161678	chr5:117300137-117300138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139251470	chr5:117300161-117300162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145689671	chr5:117300162-117300163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112605378	chr5:117300207-117300208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535544526	chr5:117300218-117300219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555853901	chr5:117300219-117300220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575366275	chr5:117300253-117300254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549709487	chr5:117300258-117300259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs543281385	chr5:117300306-117300307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116110030	chr5:117300308-117300309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184483734	chr5:117300332-117300333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188541363	chr5:117300333-117300334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527914885	chr5:117300378-117300379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111799936	chr5:117300379-117300380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11390708	chr5:117300385-117300386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75613877	chr5:117300391-117300392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559856898	chr5:117300428-117300429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573600718	chr5:117300442-117300443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181522440	chr5:117300468-117300469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372880019	chr5:117300495-117300496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147321176	chr5:117300533-117300534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184296194	chr5:117300566-117300567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17143456	chr5:117300583-117300584	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565081453	chr5:117300647-117300648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs472296	chr5:117300672-117300673	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs556284309	chr5:117300674-117300675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577754610	chr5:117300705-117300706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544951123	chr5:117300760-117300761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189519616	chr5:117300791-117300792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553630885	chr5:117300793-117300794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117298800-117304200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:117299200-117300000	Enhancers	Colon Smooth Muscle	Colon
3	chr5:117299800-117301000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:117300000-117302000	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:117300400-117300800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:117301000-117301400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:117301000-117303400	Weak transcription	Left Ventricle	heart
8	chr5:117302000-117302800	Enhancers	Colon Smooth Muscle	Colon
9	chr5:117302800-117304800	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:117304200-117306200	Enhancers	Rectal Smooth Muscle	rectum
11	chr5:117304600-117305600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr5:117304800-117305600	Enhancers	Fetal Stomach	stomach
13	chr5:117304800-117305600	Enhancers	Stomach Smooth Muscle	stomach
14	chr5:117304800-117305800	Enhancers	Colon Smooth Muscle	Colon
15	chr5:117309000-117310600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:117309200-117310000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:117309200-117310200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:117309400-117310200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr5:117309400-117310400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:117309400-117310400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:117310000-117310400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:117318200-117318800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:117318200-117318800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:117318200-117318800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:117318200-117318800	Enhancers	Adipose Nuclei	Adipose
26	chr5:117318200-117319200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:117318400-117318600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:117318400-117318800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:117318400-117318800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:117318600-117319000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:117318600-117319200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:117319000-117320200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:117320400-117320600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:117329800-117330200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:117329800-117330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:117329800-117330400	Enhancers	HMEC	breast

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