Variant report

Variant	esv3462338
Chromosome Location	chr3:110678659-110679165
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375616480	chr3:110678675-110678676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs35665971	chr3:110678676-110678677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs543583996	chr3:110678677-110678678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75920939	chr3:110678682-110678683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531824332	chr3:110678715-110678716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184480814	chr3:110678738-110678739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs66513024	chr3:110678768-110678769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569651277	chr3:110678781-110678782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527991643	chr3:110678793-110678794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs67056469	chr3:110678833-110678834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141765185	chr3:110678849-110678850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536491268	chr3:110678855-110678856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571867892	chr3:110678883-110678884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113944576	chr3:110678895-110678896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569661363	chr3:110678928-110678929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538691740	chr3:110678947-110678948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145421762	chr3:110678957-110678958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551849768	chr3:110678998-110678999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374558656	chr3:110679011-110679012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190536171	chr3:110679012-110679013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192676325	chr3:110679015-110679016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182495318	chr3:110679018-110679019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574674300	chr3:110679019-110679020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184507825	chr3:110679061-110679062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563449327	chr3:110679064-110679065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531732386	chr3:110679105-110679106	Weak transcription Enhancers	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
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110670400-110682400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:110674800-110684600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:110678800-110680600	Enhancers	Dnd41	blood

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