Variant report

Variant	nsv969446
Chromosome Location	chr6:132101435-132102923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:132101901-132101984	K562	blood:	n/a	n/a
2	CTCF	chr6:132101822-132102030	K562	blood:	n/a	n/a
3	CTCF	chr6:132101912-132101979	MCF-7	breast:	n/a	n/a
4	CTCF	chr6:132101808-132102196	K562	blood:	n/a	n/a
5	CTCF	chr6:132101911-132101975	MCF-7	breast:	n/a	n/a
6	CTCF	chr6:132101866-132102076	K562	blood:	n/a	n/a
7	POLR2A	chr6:132102214-132102368	MCF-7	breast:	n/a	n/a
8	SPI1	chr6:132102917-132103172	GM12878	blood:	n/a	chr6:132103042-132103051

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:132102258-132102308	NH-A	brain:	n/a
2	chr6:132102258-132102308	HCPEpiC	choroid plexus:	n/a
3	chr6:132102144-132102194	GM12878	blood:	n/a
4	chr6:132102258-132102308	PrEC	prostate:	n/a
5	chr6:132102214-132102264	HPAEpiC	pulmonary alveolar:	n/a
6	chr6:132102258-132102308	LNCaP	prostate:	n/a
7	chr6:132102144-132102194	AG04449	skin:	fetal
8	chr6:132102258-132102308	AG09309	skin:	n/a
9	chr6:132102144-132102194	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:132102258-132102308	IMR90	lung:	fetal
11	chr6:132102214-132102264	HRCEpiC	kidney:	n/a
12	chr6:132102144-132102194	HepG2	liver:	n/a
13	chr6:132102258-132102308	ovcar-3	ovarian:	n/a
14	chr6:132102144-132102194	RPTEC	kidney:	n/a
15	chr6:132102214-132102264	Caco-2	colon:	n/a
16	chr6:132102144-132102194	MCF10A-Er-Src	breast:	n/a
17	chr6:132102258-132102308	H1-hESC	embryonic stem cell:	embryo
18	chr6:132102214-132102264	GM12891	blood:	n/a
19	chr6:132102144-132102194	NB4	blood:	n/a
20	chr6:132102144-132102194	BE2_C	brain:	n/a
21	chr6:132102258-132102308	MCF-7	breast:	n/a
22	chr6:132102144-132102194	BJ	skin:	n/a
23	chr6:132102214-132102264	T-47D	breast:	n/a
24	chr6:132102258-132102308	HCT-116	colon:	n/a
25	chr6:132102214-132102264	NHBE	bronchial:	n/a
26	chr6:132102214-132102264	Hela-S3	cervix:	n/a
27	chr6:132102258-132102308	MCF10A-Er-Src	breast:	n/a
28	chr6:132102214-132102264	NT2-D1	testis:	n/a
29	chr6:132102144-132102194	CMK	blood:	n/a
30	chr6:132102214-132102264	GM06990	blood:	n/a
31	chr6:132102144-132102194	LNCaP	prostate:	n/a
32	chr6:132102214-132102264	RPTEC	kidney:	n/a
33	chr6:132102258-132102308	Hepatocyte	liver:	n/a
34	chr6:132102214-132102264	HNPCEpiC	eye:	n/a
35	chr6:132102144-132102194	HCT-116	colon:	n/a
36	chr6:132102144-132102194	HAEpiC	amniotic membrane:	n/a
37	chr6:132102144-132102194	HMEC	breast:	n/a
38	chr6:132102258-132102308	NB4	blood:	n/a
39	chr6:132102258-132102308	AG10803	skin:	n/a
40	chr6:132102258-132102308	SAEC	small airway:	n/a
41	chr6:132102258-132102308	AG04450	lung:	fetal
42	chr6:132102144-132102194	AG10803	skin:	n/a
43	chr6:132102258-132102308	HL-60	blood:	n/a
44	chr6:132102258-132102308	SKMC	muscle:	n/a
45	chr6:132102258-132102308	Caco-2	colon:	n/a
46	chr6:132102214-132102264	K562	blood:	n/a
47	chr6:132102214-132102264	HEEpiC	esophagus:	n/a
48	chr6:132102214-132102264	U87	brain:	n/a
49	chr6:132102214-132102264	HRE	kidney:	n/a
50	chr6:132102258-132102308	PANC-1	pancreas:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE9-1	chr6:132101861-132102452	NONHSAT114925

No data

Variant related genes	Relation type
ENSG00000216917	TF binding region
ENSG00000216917	CpG island

Extended variants
information (count: 71 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151237446	chr6:132101488-132101489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577768529	chr6:132101497-132101498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397809352	chr6:132101507-132101508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139254230	chr6:132101513-132101514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150001602	chr6:132101543-132101544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530665961	chr6:132101553-132101554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113858302	chr6:132101648-132101649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560911811	chr6:132101661-132101662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528082593	chr6:132101667-132101668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376451843	chr6:132101683-132101684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566316076	chr6:132101695-132101696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533380407	chr6:132101719-132101720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543980011	chr6:132101734-132101735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551914153	chr6:132101809-132101810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531648039	chr6:132101813-132101814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570133235	chr6:132101823-132101824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537174022	chr6:132101826-132101827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555433944	chr6:132101841-132101842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559233475	chr6:132101869-132101870	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs567333187	chr6:132101892-132101893	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs534655386	chr6:132101893-132101894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs34605307	chr6:132101897-132101898	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs200270149	chr6:132101898-132101899	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs56037555	chr6:132101936-132101937	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577834733	chr6:132101939-132101940	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs544958701	chr6:132101985-132101986	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs557149803	chr6:132102034-132102035	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs575507965	chr6:132102035-132102036	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs542784058	chr6:132102057-132102058	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs560099530	chr6:132102065-132102066	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs147697082	chr6:132102108-132102109	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs190580570	chr6:132102115-132102116	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs563783777	chr6:132102123-132102124	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs142520871	chr6:132102134-132102135	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs373210641	chr6:132102147-132102148	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs142181771	chr6:132102152-132102153	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs533712527	chr6:132102161-132102162	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs551763045	chr6:132102172-132102173	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs563949487	chr6:132102185-132102186	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs563194304	chr6:132102195-132102196	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs146865789	chr6:132102199-132102200	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs370523972	chr6:132102208-132102209	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs549071177	chr6:132102231-132102232	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs567396446	chr6:132102255-132102256	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs59101999	chr6:132102278-132102279	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs547005750	chr6:132102287-132102288	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs571530056	chr6:132102332-132102333	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs538971158	chr6:132102335-132102336	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs147954976	chr6:132102338-132102339	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs182410584	chr6:132102340-132102341	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132099800-132109000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:132100400-132109400	Weak transcription	Aorta	Aorta
3	chr6:132100800-132103200	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:132100800-132103400	Weak transcription	HepG2	liver
5	chr6:132100800-132105200	Weak transcription	Adipose Nuclei	Adipose
6	chr6:132102200-132102400	Enhancers	Fetal Muscle Trunk	muscle
7	chr6:132102600-132104400	Weak transcription	Fetal Muscle Trunk	muscle

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