Variant report

Variant	esv3324546
Chromosome Location	chr3:109991733-109992234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2712998	chr3:109991739-109991740	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573430263	chr3:109991808-109991809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563582414	chr3:109991830-109991831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2614694	chr3:109991870-109991871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs552484388	chr3:109991900-109991901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4682570	chr3:109991904-109991905	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11714384	chr3:109991906-109991907	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs143286733	chr3:109991910-109991911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568078510	chr3:109991937-109991938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537016501	chr3:109991942-109991943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188431265	chr3:109991969-109991970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111492765	chr3:109991974-109991975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113727142	chr3:109992013-109992014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111441961	chr3:109992022-109992023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386664543	chr3:109992024-109992025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372980928	chr3:109992025-109992026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11714431	chr3:109992026-109992027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116015686	chr3:109992032-109992033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34794966	chr3:109992039-109992040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555210680	chr3:109992062-109992063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574492846	chr3:109992105-109992106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2614693	chr3:109992184-109992185	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs71131913	chr3:109992222-109992223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs63533263	chr3:109992223-109992224	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
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109985000-109992000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:109990600-109992200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr3:109990600-109992400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:109990600-109992400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:109990800-109992200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:109990800-109992600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:109991000-109992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:109991000-109992200	Enhancers	Fetal Heart	heart
9	chr3:109991000-109992600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:109991000-109993000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr3:109992000-109992200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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