Variant report

Variant	esv3464315
Chromosome Location	chr3:139698121-139700274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:139693515..139695318-chr3:139696321..139698150,3	K562	blood:
2	chr3:139697581..139700549-chr3:139702682..139705331,2	MCF-7	breast:
3	chr3:139687470..139689558-chr3:139697247..139698836,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 55 )

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	rs548987980	chr3:139698126-139698127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567433946	chr3:139698130-139698131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183248799	chr3:139698133-139698134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556391382	chr3:139698148-139698149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368856085	chr3:139698263-139698264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375175276	chr3:139698268-139698269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530904391	chr3:139698301-139698302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576257832	chr3:139698324-139698325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545136934	chr3:139698326-139698327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76318622	chr3:139698327-139698328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114979530	chr3:139698338-139698339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540648905	chr3:139698348-139698349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560879672	chr3:139698354-139698355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538153527	chr3:139698389-139698390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142767542	chr3:139698412-139698413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542864248	chr3:139698435-139698436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376877468	chr3:139698501-139698502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35492294	chr3:139698517-139698518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78755684	chr3:139698540-139698541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147384385	chr3:139698541-139698542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565211126	chr3:139698577-139698578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs137977002	chr3:139698581-139698582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16849613	chr3:139698588-139698589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567599217	chr3:139698594-139698595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536553752	chr3:139698609-139698610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550059447	chr3:139698640-139698641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143430268	chr3:139698650-139698651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74676272	chr3:139698667-139698668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558649605	chr3:139698672-139698673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147128664	chr3:139698722-139698723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139436080	chr3:139698724-139698725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554269351	chr3:139698745-139698746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9861857	chr3:139698847-139698848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369204842	chr3:139698931-139698932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150059859	chr3:139698948-139698949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117948087	chr3:139698982-139698983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112141664	chr3:139698992-139698993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35226034	chr3:139698994-139698995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545181077	chr3:139699006-139699007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565417358	chr3:139699041-139699042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536271700	chr3:139699097-139699098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547823622	chr3:139699125-139699126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561134810	chr3:139699157-139699158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144354928	chr3:139699183-139699184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370124928	chr3:139699204-139699205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2162211	chr3:139699216-139699217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538872050	chr3:139699219-139699220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552081396	chr3:139699254-139699255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565818989	chr3:139699268-139699269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9862536	chr3:139699271-139699272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139668200-139698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:139682600-139726000	Weak transcription	HSMMtube	muscle
3	chr3:139696600-139698200	Enhancers	Ovary	ovary
4	chr3:139698200-139700400	Weak transcription	Ovary	ovary

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