Variant report

Variant	esv10319
Chromosome Location	chr3:139699689-139701126
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	chr3:139700959..139701745-chr3:139770128..139770877,2	MCF-7	breast:
2	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:

Extended variants
information (count: 64 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9289593	chr3:139699708-139699709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143768333	chr3:139699711-139699712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12491613	chr3:139699712-139699713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs187496398	chr3:139699771-139699772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76410957	chr3:139699776-139699777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531781543	chr3:139699788-139699789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528258829	chr3:139699799-139699800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529259003	chr3:139699804-139699805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369804274	chr3:139699807-139699808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9289594	chr3:139699811-139699812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567799267	chr3:139699812-139699813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536687868	chr3:139699818-139699819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562763490	chr3:139699827-139699828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192472908	chr3:139699847-139699848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570067646	chr3:139699852-139699853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538973584	chr3:139699908-139699909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35784254	chr3:139699919-139699920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184795616	chr3:139699929-139699930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146820515	chr3:139699932-139699933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541594913	chr3:139699933-139699934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2162210	chr3:139699972-139699973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs574979221	chr3:139700044-139700045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543888100	chr3:139700057-139700058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375785318	chr3:139700073-139700074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144204186	chr3:139700077-139700078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532500271	chr3:139700134-139700135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545798545	chr3:139700154-139700155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2114166	chr3:139700236-139700237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186605156	chr3:139700252-139700253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2114165	chr3:139700274-139700275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567860597	chr3:139700328-139700329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377657202	chr3:139700333-139700334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192191128	chr3:139700335-139700336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570129607	chr3:139700351-139700352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539392002	chr3:139700446-139700447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151035313	chr3:139700476-139700477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370838930	chr3:139700486-139700487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566350798	chr3:139700506-139700507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117071828	chr3:139700524-139700525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9830596	chr3:139700533-139700534	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575044409	chr3:139700542-139700543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547153801	chr3:139700588-139700589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140904311	chr3:139700592-139700593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557459269	chr3:139700637-139700638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577194277	chr3:139700665-139700666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114864206	chr3:139700666-139700667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9850893	chr3:139700675-139700676	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184566842	chr3:139700737-139700738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7641534	chr3:139700752-139700753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4683772	chr3:139700806-139700807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139682600-139726000	Weak transcription	HSMMtube	muscle
2	chr3:139698200-139700400	Weak transcription	Ovary	ovary
3	chr3:139700400-139700800	Enhancers	Ovary	ovary
4	chr3:139700600-139700800	Enhancers	Psoas Muscle	Psoas
5	chr3:139700800-139723200	Weak transcription	Ovary	ovary

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