Variant report

Variant	nsv981974
Chromosome Location	chr8:110482256-110484135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:110482605-110482697	Medullo	brain:	n/a	n/a
2	FOXA1	chr8:110483045-110483384	HepG2	liver:	n/a	n/a
3	FOXA1	chr8:110483109-110483350	T-47D	breast:	n/a	n/a
4	POLR2A	chr8:110483925-110483942	MCF-7	breast:	n/a	n/a
5	POLR2A	chr8:110483066-110483421	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:110482665-110482864	GM12878	blood:	n/a	n/a
7	SPI1	chr8:110483082-110483283	GM12878	blood:	n/a	chr8:110483148-110483161 chr8:110483179-110483192 chr8:110483181-110483190
8	SPI1	chr8:110483043-110483284	GM12891	blood:	n/a	chr8:110483148-110483161 chr8:110483179-110483192 chr8:110483181-110483190
9	SPI1	chr8:110483075-110483244	K562	blood:	n/a	chr8:110483148-110483161 chr8:110483179-110483192 chr8:110483181-110483190
10	SPI1	chr8:110483034-110483308	K562	blood:	n/a	chr8:110483148-110483161 chr8:110483179-110483192 chr8:110483181-110483190

No.	Distal block	Cell Line	Cell type
1	chr8:110483309..110485365-chr8:110487237..110489170,2	MCF-7	breast:
2	chr8:110483442..110487678-chr8:110550408..110553451,5	MCF-7	breast:
3	chr8:110480733..110484366-chr8:110549857..110553138,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254185	TF binding region
ENSG00000147654	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75407792	chr8:110482283-110482284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542614940	chr8:110482301-110482302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559368071	chr8:110482346-110482347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572892010	chr8:110482381-110482382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs1471124	chr8:110482382-110482383	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs113680045	chr8:110482409-110482410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs565018169	chr8:110482415-110482416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs533004451	chr8:110482427-110482428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549915998	chr8:110482461-110482462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs563446165	chr8:110482471-110482472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529142145	chr8:110482474-110482475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549297612	chr8:110482512-110482513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565710286	chr8:110482554-110482555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534576759	chr8:110482616-110482617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551520383	chr8:110482680-110482681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554094778	chr8:110482694-110482695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571285130	chr8:110482703-110482704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537256078	chr8:110482711-110482712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557481212	chr8:110482749-110482750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145873091	chr8:110482770-110482771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536589153	chr8:110482822-110482823	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs553235760	chr8:110482833-110482834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373664801	chr8:110482854-110482855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs56213806	chr8:110482873-110482874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200446465	chr8:110482874-110482875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572930522	chr8:110482878-110482879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1783152	chr8:110482900-110482901	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs558801442	chr8:110482901-110482902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs575654972	chr8:110482938-110482939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543257926	chr8:110482961-110482962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76524422	chr8:110482998-110482999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556871396	chr8:110483007-110483008	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563549057	chr8:110483008-110483009	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs529081200	chr8:110483038-110483039	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138610562	chr8:110483042-110483043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs559656339	chr8:110483069-110483070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs141140077	chr8:110483081-110483082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551354963	chr8:110483121-110483122	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571257432	chr8:110483159-110483160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs193259586	chr8:110483198-110483199	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs182388353	chr8:110483261-110483262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563321229	chr8:110483291-110483292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542978428	chr8:110483295-110483296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs16918465	chr8:110483296-110483297	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117843878	chr8:110483298-110483299	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs553274505	chr8:110483427-110483428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186950001	chr8:110483428-110483429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538658553	chr8:110483447-110483448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370968380	chr8:110483458-110483459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558867780	chr8:110483493-110483494	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110463200-110492400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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