Variant report

Variant	esv3435861
Chromosome Location	chr3:102092827-102095261
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 136 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147647362	chr3:102092844-102092845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189086892	chr3:102092921-102092922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534599703	chr3:102092959-102092960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546525152	chr3:102093039-102093040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374715085	chr3:102093076-102093077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73157661	chr3:102093159-102093160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs17821641	chr3:102093179-102093180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575260735	chr3:102093185-102093186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539201449	chr3:102093211-102093212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10511199	chr3:102093212-102093213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs142325019	chr3:102093225-102093226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540910546	chr3:102093240-102093241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527412952	chr3:102093284-102093285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562331507	chr3:102093345-102093346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34293402	chr3:102093405-102093406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574405762	chr3:102093417-102093418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181752102	chr3:102093425-102093426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10511198	chr3:102093452-102093453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs533455751	chr3:102093463-102093464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551629462	chr3:102093468-102093469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs144627225	chr3:102093478-102093479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10511197	chr3:102093492-102093493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548987318	chr3:102093494-102093495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567968266	chr3:102093506-102093507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35993306	chr3:102093527-102093528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145738276	chr3:102093550-102093551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531195708	chr3:102093557-102093558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371806392	chr3:102093563-102093564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549358656	chr3:102093683-102093684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569290529	chr3:102093708-102093709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569005616	chr3:102093740-102093741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539499928	chr3:102093763-102093764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557600490	chr3:102093768-102093769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184503306	chr3:102093886-102093887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533738387	chr3:102093893-102093894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555402408	chr3:102093923-102093924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189734232	chr3:102093962-102093963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544619127	chr3:102093964-102093965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386663992	chr3:102093981-102093982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556713351	chr3:102094024-102094025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199839005	chr3:102094051-102094052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181223879	chr3:102094070-102094071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376879871	chr3:102094081-102094082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145785977	chr3:102094086-102094087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386663993	chr3:102094088-102094089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186048329	chr3:102094097-102094098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189330987	chr3:102094098-102094099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113017496	chr3:102094100-102094101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566121017	chr3:102094155-102094156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536799977	chr3:102094163-102094164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:102075600-102096600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:102093200-102093800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:102093200-102096600	Weak transcription	HMEC	breast
4	chr3:102093800-102096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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