Variant report

Variant	esv3429591
Chromosome Location	chr3:109990785-109991225
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536460799	chr3:109990788-109990789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9865517	chr3:109990863-109990864	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190879612	chr3:109990877-109990878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539300191	chr3:109990878-109990879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373415114	chr3:109990880-109990881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28624516	chr3:109990882-109990883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78256344	chr3:109990902-109990903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76139614	chr3:109990903-109990904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs58185620	chr3:109990904-109990905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553682991	chr3:109990906-109990907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374616765	chr3:109990907-109990908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184217343	chr3:109990932-109990933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113336372	chr3:109990937-109990938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572025805	chr3:109990958-109990959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115237271	chr3:109990989-109990990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9883356	chr3:109991042-109991043	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574574906	chr3:109991075-109991076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543686837	chr3:109991076-109991077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188318153	chr3:109991085-109991086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145236056	chr3:109991133-109991134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2614695	chr3:109991144-109991145	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:15 , 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	chr3:109985200-109991000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:109985400-109991000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:109988200-109991200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:109990600-109992200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:109990600-109992400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:109990600-109992400	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr3:109990800-109992200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:109990800-109992600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:109991000-109991600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:109991000-109992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:109991000-109992200	Enhancers	Fetal Heart	heart
13	chr3:109991000-109992600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:109991000-109993000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:109991200-109991600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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