Variant report

Variant	esv3332043
Chromosome Location	chr3:139526603-139529954
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	chr3:139526947..139528640-chr3:139532025..139533584,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 53 )

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	rs376823571	chr3:139527219-139527220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548700864	chr3:139527224-139527225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183691634	chr3:139527272-139527273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568777227	chr3:139527278-139527279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188359300	chr3:139527290-139527291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192524575	chr3:139527336-139527337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs185061004	chr3:139527337-139527338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189940992	chr3:139527346-139527347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113220779	chr3:139527360-139527361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545503903	chr3:139527369-139527370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182114423	chr3:139527404-139527405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186165247	chr3:139527405-139527406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151316559	chr3:139527450-139527451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547336163	chr3:139527451-139527452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140561080	chr3:139527456-139527457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544495672	chr3:139527461-139527462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189214833	chr3:139527469-139527470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57329456	chr3:139527502-139527503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs138403462	chr3:139527509-139527510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558454542	chr3:139527517-139527518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573646372	chr3:139527532-139527533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142897495	chr3:139527534-139527535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145054497	chr3:139527595-139527596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369198648	chr3:139527608-139527609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75242693	chr3:139527610-139527611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs59162074	chr3:139527624-139527625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200957089	chr3:139527625-139527626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3033845	chr3:139527626-139527627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34371841	chr3:139527647-139527648	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs138816260	chr3:139527712-139527713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533349094	chr3:139527778-139527779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546873691	chr3:139527784-139527785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149339814	chr3:139527829-139527830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11707166	chr3:139527852-139527853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549384893	chr3:139527869-139527870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569295078	chr3:139527881-139527882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181916200	chr3:139527908-139527909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558088372	chr3:139527990-139527991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574068824	chr3:139528012-139528013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542745940	chr3:139528019-139528020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73223080	chr3:139528048-139528049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534035380	chr3:139528052-139528053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112615733	chr3:139528070-139528071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553670989	chr3:139528081-139528082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573710877	chr3:139528090-139528091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542380676	chr3:139528114-139528115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562213316	chr3:139528121-139528122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575644105	chr3:139528128-139528129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76825102	chr3:139528167-139528168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74982043	chr3:139528234-139528235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139527200-139527600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:139527600-139533000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:139529000-139529800	Enhancers	HSMMtube	muscle
4	chr3:139529200-139532800	Enhancers	Fetal Intestine Large	intestine
5	chr3:139529400-139529600	Enhancers	Right Atrium	heart
6	chr3:139529400-139529800	Enhancers	Lung	lung
7	chr3:139529600-139530800	Enhancers	HSMM	muscle
8	chr3:139529600-139534400	Weak transcription	Right Atrium	heart
9	chr3:139529800-139530600	Weak transcription	Lung	lung
10	chr3:139529800-139530600	Flanking Active TSS	HSMMtube	muscle
11	chr3:139529800-139531600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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