Variant report

Variant	nsv963280
Chromosome Location	chr3:139760775-139768344
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139738986..139741463-chr3:139766762..139768876,2	K562	blood:
2	chr3:139682760..139685173-chr3:139765720..139767567,2	K562	blood:

Extended variants
information (count: 327 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567919325	chr3:139760804-139760805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74694158	chr3:139760816-139760817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535454326	chr3:139760885-139760886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553844494	chr3:139760910-139760911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6797584	chr3:139760911-139760912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539568152	chr3:139760914-139760915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114333520	chr3:139760940-139760941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573826767	chr3:139761043-139761044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6810121	chr3:139761055-139761056	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs12108195	chr3:139761065-139761066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4683473	chr3:139761073-139761074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34115488	chr3:139761078-139761079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573910129	chr3:139761120-139761121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541015924	chr3:139761146-139761147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559366117	chr3:139761149-139761150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533227571	chr3:139761150-139761151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4683474	chr3:139761163-139761164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs372540188	chr3:139761184-139761185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190149466	chr3:139761190-139761191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182793207	chr3:139761209-139761210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115984104	chr3:139761233-139761234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575580193	chr3:139761291-139761292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567940237	chr3:139761339-139761340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4683788	chr3:139761355-139761356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12107084	chr3:139761356-139761357	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs4683789	chr3:139761367-139761368	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111822246	chr3:139761412-139761413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539506360	chr3:139761416-139761417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533289146	chr3:139761439-139761440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557856160	chr3:139761442-139761443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61575735	chr3:139761443-139761444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57732985	chr3:139761460-139761461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560377467	chr3:139761475-139761476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546772296	chr3:139761519-139761520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372716848	chr3:139761539-139761540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573593389	chr3:139761540-139761541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527508771	chr3:139761542-139761543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368237999	chr3:139761553-139761554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138674323	chr3:139761559-139761560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552931131	chr3:139761577-139761578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577639196	chr3:139761580-139761581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149321714	chr3:139761586-139761587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563815024	chr3:139761608-139761609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560398863	chr3:139761618-139761619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530950805	chr3:139761646-139761647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12485438	chr3:139761656-139761657	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139327815	chr3:139761660-139761661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548832947	chr3:139761663-139761664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528779703	chr3:139761676-139761677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547333484	chr3:139761691-139761692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Ependymoma	20639864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Dyslexia	22102821	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139757200-139768200	Weak transcription	HSMMtube	muscle
2	chr3:139760000-139760800	Enhancers	Ovary	ovary
3	chr3:139760800-139769200	Weak transcription	Ovary	ovary
4	chr3:139767400-139770000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:139767800-139768000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:139768000-139770200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:139768200-139769400	Strong transcription	HSMMtube	muscle

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