Variant report

Variant	nsv971604
Chromosome Location	chr8:113580995-113583043
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	FOS	chr8:113580888-113581028	MCF10A-Er-Src	breast:	n/a	chr8:113580965-113580977 chr8:113580967-113580975 chr8:113580966-113580977
2	MAFF	chr8:113580844-113581102	HepG2	liver:	n/a	chr8:113580965-113580983
3	MAFK	chr8:113580838-113581095	HepG2	liver:	n/a	chr8:113580966-113580981
4	MAFK	chr8:113580886-113581074	IMR90	lung:	n/a	chr8:113580966-113580981
5	POLR2A	chr8:113581409-113581435	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000238656	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182260724	chr8:113580996-113580997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs2602172	chr8:113580999-113581000	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546968851	chr8:113581015-113581016	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566879139	chr8:113581037-113581038	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539061125	chr8:113581067-113581068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552385665	chr8:113581078-113581079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs140726543	chr8:113581085-113581086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs187338477	chr8:113581086-113581087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs537630250	chr8:113581108-113581109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554361683	chr8:113581136-113581137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574418106	chr8:113581139-113581140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191787793	chr8:113581169-113581170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533841328	chr8:113581185-113581186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553311433	chr8:113581186-113581187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576754818	chr8:113581190-113581191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545830964	chr8:113581191-113581192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116666829	chr8:113581197-113581198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576102747	chr8:113581210-113581211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs207469729	chr8:113581224-113581225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183103140	chr8:113581334-113581335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544796061	chr8:113581354-113581355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561469309	chr8:113581364-113581365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143803696	chr8:113581391-113581392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528934403	chr8:113581421-113581422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188442048	chr8:113581422-113581423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540916275	chr8:113581438-113581439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558253420	chr8:113581464-113581465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560810771	chr8:113581495-113581496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532378274	chr8:113581511-113581512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151097936	chr8:113581521-113581522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576930062	chr8:113581580-113581581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569221087	chr8:113581588-113581589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531856935	chr8:113581604-113581605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547936820	chr8:113581622-113581623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567927173	chr8:113581628-113581629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533777491	chr8:113581677-113581678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577911257	chr8:113581691-113581692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1377368	chr8:113581714-113581715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141036312	chr8:113581734-113581735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs76398422	chr8:113581753-113581754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576007207	chr8:113581769-113581770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541954450	chr8:113581787-113581788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555538696	chr8:113581813-113581814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138803645	chr8:113581833-113581834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193056275	chr8:113581882-113581883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143063517	chr8:113581885-113581886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117648881	chr8:113581898-113581899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147039573	chr8:113581940-113581941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138265794	chr8:113582072-113582073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185665961	chr8:113582106-113582107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	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	chr8:113555600-113594000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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