Variant report

Variant	nsv465780
Chromosome Location	chr8:115305708-115321191
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:115313320..115315368-chr8:115318316..115320811,2	K562	blood:
2	chr8:115308430..115310814-chr8:115329605..115331962,2	MCF-7	breast:
3	chr8:115313320..115315368-chr8:115318316..115320811,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CSMD3-1	chr8:115316636-115316724	XLOC_007184
2	lnc-CSMD3-5	chr8:115308063-115308898	NONHSAT128356
3	lnc-CSMD3-1	chr8:115315119-115315373	XLOC_007184
4	lnc-CSMD3-5	chr8:115309415-115309984	NONHSAT128356

No data

Variant related genes	Relation type
ENSG00000253499	chromatin interactions
MAGT1	miRNA target sites
MAFK	miRNA target sites

Extended variants
information (count: 536 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7015942	chr8:115305708-115305709	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528895518	chr8:115305718-115305719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544268098	chr8:115305721-115305722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562565983	chr8:115305756-115305757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188931001	chr8:115305775-115305776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193124369	chr8:115305816-115305817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77618285	chr8:115305847-115305848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537265592	chr8:115305878-115305879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185103172	chr8:115305967-115305968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188420009	chr8:115305985-115305986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537838384	chr8:115305988-115305989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72684150	chr8:115306048-115306049	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs62540574	chr8:115306072-115306073	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs191658917	chr8:115306112-115306113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572530075	chr8:115306222-115306223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184085213	chr8:115306224-115306225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369844342	chr8:115306237-115306238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370432802	chr8:115306251-115306252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200336985	chr8:115306278-115306279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555294097	chr8:115306291-115306292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373726597	chr8:115306334-115306335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188081401	chr8:115306347-115306348	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34843828	chr8:115306352-115306353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80105594	chr8:115306358-115306359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74543089	chr8:115306364-115306365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541824154	chr8:115306398-115306399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370922674	chr8:115306404-115306405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562187211	chr8:115306405-115306406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544763618	chr8:115306450-115306451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560220378	chr8:115306465-115306466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373841135	chr8:115306472-115306473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548804844	chr8:115306476-115306477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560809058	chr8:115306490-115306491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531501897	chr8:115306523-115306524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550117701	chr8:115306561-115306562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575816282	chr8:115306602-115306603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113774097	chr8:115306626-115306627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539056671	chr8:115306663-115306664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145513148	chr8:115306718-115306719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566207377	chr8:115306772-115306773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs180712869	chr8:115306822-115306823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs137977585	chr8:115306850-115306851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199623435	chr8:115306851-115306852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183694372	chr8:115306932-115306933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190445550	chr8:115306946-115306947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182159041	chr8:115306947-115306948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138169826	chr8:115306958-115306959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559237847	chr8:115306972-115306973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374780995	chr8:115307015-115307016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186925092	chr8:115307070-115307071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115302000-115318600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:115302600-115307000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:115302800-115310400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:115303400-115308400	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr8:115303600-115309800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:115303800-115308400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:115303800-115311600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:115304000-115318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:115304400-115310200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:115305000-115309400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:115305000-115309400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:115305200-115309200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:115307000-115307400	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr8:115307400-115310400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:115308400-115318600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:115308400-115318800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr8:115309200-115310400	Enhancers	GM12878-XiMat	blood
18	chr8:115309200-115310800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:115309400-115313200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:115309400-115313400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:115310400-115310800	Flanking Active TSS	GM12878-XiMat	blood
22	chr8:115310600-115311600	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:115310800-115312200	Enhancers	GM12878-XiMat	blood
24	chr8:115318200-115319200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:115318600-115319000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:115318600-115319200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:115318600-115319200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:115318800-115319200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:115319200-115323200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links