Variant report

Variant	nsv525281
Chromosome Location	chr3:88472522-88478666
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	E2F4	chr3:88473166-88473219	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr3:88478226-88478560	MCF10A-Er-Src	breast:	n/a	chr3:88478343-88478350
3	FOS	chr3:88478283-88478616	MCF10A-Er-Src	breast:	n/a	chr3:88478343-88478350
4	KAP1	chr3:88476746-88477126	HEK293	kidney:	n/a	n/a
5	POLR2A	chr3:88474764-88474812	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr3:88474416-88474509	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr3:88474971-88475082	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr3:88478242-88478628	MCF10A-Er-Src	breast:	n/a	chr3:88478450-88478473 chr3:88478450-88478458 chr3:88478558-88478569 chr3:88478448-88478459 chr3:88478444-88478464
9	STAT3	chr3:88478250-88478672	MCF10A-Er-Src	breast:	n/a	chr3:88478450-88478473 chr3:88478450-88478458 chr3:88478558-88478569 chr3:88478448-88478459 chr3:88478444-88478464
10	STAT3	chr3:88478258-88478672	MCF10A-Er-Src	breast:	n/a	chr3:88478450-88478473 chr3:88478450-88478458 chr3:88478558-88478569 chr3:88478448-88478459 chr3:88478444-88478464
11	STAT3	chr3:88478198-88478635	MCF10A-Er-Src	breast:	n/a	chr3:88478450-88478473 chr3:88478450-88478458 chr3:88478558-88478569 chr3:88478448-88478459 chr3:88478444-88478464
12	STAT3	chr3:88478252-88478671	MCF10A-Er-Src	breast:	n/a	chr3:88478450-88478473 chr3:88478450-88478458 chr3:88478558-88478569 chr3:88478448-88478459 chr3:88478444-88478464
13	STAT3	chr3:88473116-88473160	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf38-2	chr3:88474992-88475125	l_2409_chr3:88470262-88514628_testes

Variant related genes	Relation type
ENSG00000207316	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558783005	chr3:88475000-88475001	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs570277355	chr3:88475026-88475027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs374520274	chr3:88475031-88475032	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs115059494	chr3:88475066-88475067	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs113019510	chr3:88475075-88475076	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs74474784	chr3:88475118-88475119	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs557810332	chr3:88476625-88476626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73134438	chr3:88476633-88476634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147883812	chr3:88476671-88476672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188762507	chr3:88476679-88476680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540858314	chr3:88476700-88476701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560247614	chr3:88476711-88476712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141618963	chr3:88476731-88476732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539764407	chr3:88476732-88476733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145462731	chr3:88476770-88476771	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs570123430	chr3:88476778-88476779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs564149777	chr3:88476818-88476819	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531561692	chr3:88476897-88476898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550497276	chr3:88476900-88476901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs6780958	chr3:88476909-88476910	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530191664	chr3:88476918-88476919	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529528362	chr3:88476928-88476929	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs547989844	chr3:88476956-88476957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566250518	chr3:88476963-88476964	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539553052	chr3:88476995-88476996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs551453317	chr3:88477081-88477082	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs569633239	chr3:88477126-88477127	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs550275210	chr3:88477128-88477129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28870727	chr3:88477132-88477133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs147603872	chr3:88477138-88477139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149086184	chr3:88477158-88477159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573838113	chr3:88477170-88477171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534536221	chr3:88477179-88477180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552646855	chr3:88477181-88477182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552771005	chr3:88477205-88477206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376867586	chr3:88477223-88477224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371307492	chr3:88477313-88477314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201819019	chr3:88477332-88477333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143156471	chr3:88477379-88477380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564421168	chr3:88477380-88477381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73134445	chr3:88477386-88477387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs543439607	chr3:88477413-88477414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562434389	chr3:88477487-88477488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7627387	chr3:88477540-88477541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs111418000	chr3:88477541-88477542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548078471	chr3:88477581-88477582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541994439	chr3:88477634-88477635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13065251	chr3:88477641-88477642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13087995	chr3:88477642-88477643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559995618	chr3:88477657-88477658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:88476600-88482000	Weak transcription	Primary B cells from cord blood	blood

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