Variant report

Variant	esv3451180
Chromosome Location	chr3:140200962-140203460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62266442	chr3:140200988-140200989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62266443	chr3:140200992-140200993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562059537	chr3:140201003-140201004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187057759	chr3:140201005-140201006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111290072	chr3:140201017-140201018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563974828	chr3:140201064-140201065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139685473	chr3:140201068-140201069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149763251	chr3:140201091-140201092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115479225	chr3:140201104-140201105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191849204	chr3:140201114-140201115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183527946	chr3:140201153-140201154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565523121	chr3:140201206-140201207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201860607	chr3:140201226-140201227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533085163	chr3:140201230-140201231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147856796	chr3:140201232-140201233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569991119	chr3:140201236-140201237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200278743	chr3:140201269-140201270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537409601	chr3:140201272-140201273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371424640	chr3:140201343-140201344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549210603	chr3:140201349-140201350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567718065	chr3:140201358-140201359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373614173	chr3:140201363-140201364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs553633860	chr3:140201385-140201386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186709035	chr3:140201404-140201405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529316840	chr3:140201414-140201415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539383463	chr3:140201515-140201516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12488519	chr3:140201573-140201574	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148773106	chr3:140201575-140201576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190046002	chr3:140201581-140201582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375375010	chr3:140201582-140201583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368316182	chr3:140201637-140201638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60598750	chr3:140201654-140201655	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs532951353	chr3:140201691-140201692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551394609	chr3:140201699-140201700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563550956	chr3:140201701-140201702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530830275	chr3:140201709-140201710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549321476	chr3:140201730-140201731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567533914	chr3:140201733-140201734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551588108	chr3:140201734-140201735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535174758	chr3:140201748-140201749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373951260	chr3:140201801-140201802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182656745	chr3:140201868-140201869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571247221	chr3:140201869-140201870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571881852	chr3:140201882-140201883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367949311	chr3:140201894-140201895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141820007	chr3:140201940-140201941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143069911	chr3:140201958-140201959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374805596	chr3:140201968-140201969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575861478	chr3:140201974-140201975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536529963	chr3:140201982-140201983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140192200-140219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:140197800-140206200	Weak transcription	HSMMtube	muscle

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