Variant report

Variant	esv3402004
Chromosome Location	chr3:110533262-110540960
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	chr3:110531400..110533494-chr3:110558447..110560628,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546377248	chr3:110533264-110533265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs560134743	chr3:110533321-110533322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528867198	chr3:110533329-110533330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs145248009	chr3:110533367-110533368	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs190184401	chr3:110533395-110533396	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs73851736	chr3:110533453-110533454	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs551119260	chr3:110533456-110533457	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9828260	chr3:110533465-110533466	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539968694	chr3:110533496-110533497	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553179043	chr3:110533544-110533545	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182775619	chr3:110533548-110533549	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs535825756	chr3:110533587-110533588	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs72948740	chr3:110533590-110533591	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149153785	chr3:110533592-110533593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112560484	chr3:110533605-110533606	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143245497	chr3:110533606-110533607	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs578105330	chr3:110533721-110533722	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540357132	chr3:110533764-110533765	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs6773723	chr3:110533806-110533807	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138797928	chr3:110533840-110533841	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192790669	chr3:110533918-110533919	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs7634232	chr3:110533925-110533926	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115313782	chr3:110533978-110533979	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs77420925	chr3:110533979-110533980	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs564215638	chr3:110534035-110534036	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs533728975	chr3:110534080-110534081	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185396642	chr3:110534082-110534083	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs548279134	chr3:110534088-110534089	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs189060037	chr3:110534138-110534139	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs566822951	chr3:110534155-110534156	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs1542513	chr3:110534177-110534178	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs191953576	chr3:110534193-110534194	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184286567	chr3:110534194-110534195	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs189058573	chr3:110534198-110534199	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs538581803	chr3:110534224-110534225	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs377172668	chr3:110534286-110534287	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs558151197	chr3:110534303-110534304	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs560064173	chr3:110534335-110534336	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs181198429	chr3:110534371-110534372	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs185048259	chr3:110534437-110534438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148938297	chr3:110534441-110534442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1542512	chr3:110534474-110534475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs72948745	chr3:110534524-110534525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140732469	chr3:110534613-110534614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34922291	chr3:110534652-110534653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs148125777	chr3:110534679-110534680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80311956	chr3:110534702-110534703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs5851737	chr3:110534703-110534704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561338004	chr3:110534704-110534705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201162346	chr3:110534705-110534706	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Basal cell lymphoma	21115979	CNVD
Burkitt''s lymphoma	20823134	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110530600-110533400	Weak transcription	Stomach Mucosa	stomach
2	chr3:110531400-110534400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:110532000-110533400	Enhancers	Osteobl	bone
4	chr3:110532000-110533800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:110532000-110534400	Enhancers	HUVEC	blood vessel
6	chr3:110532000-110534800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:110532200-110533400	Enhancers	NHLF	lung
8	chr3:110532200-110534200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:110532200-110534400	Enhancers	HMEC	breast
10	chr3:110532400-110533400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:110532400-110534200	Enhancers	NHEK	skin
12	chr3:110532400-110534400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:110532400-110535200	Enhancers	NHDF-Ad	bronchial
14	chr3:110532600-110533800	Enhancers	HSMMtube	muscle
15	chr3:110532600-110534200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:110532600-110534200	Enhancers	A549	lung
17	chr3:110532600-110534200	Enhancers	Hela-S3	cervix
18	chr3:110532800-110534200	Flanking Active TSS	NH-A	brain
19	chr3:110532800-110535000	Enhancers	Dnd41	blood
20	chr3:110533000-110533400	Enhancers	HSMM	muscle
21	chr3:110533000-110533600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:110533000-110534200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:110533000-110534400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:110533000-110535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:110533200-110533800	Enhancers	GM12878-XiMat	blood
26	chr3:110533200-110534200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:110533200-110534400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:110533200-110534400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr3:110533400-110533600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:110533400-110533800	Flanking Active TSS	NHLF	lung
31	chr3:110533400-110534000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:110533400-110534000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr3:110533400-110534000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr3:110533400-110534200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:110533400-110534200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:110533400-110534200	Flanking Active TSS	HSMM	muscle
37	chr3:110533400-110534200	Flanking Active TSS	Osteobl	bone
38	chr3:110533400-110534400	Enhancers	Stomach Mucosa	stomach
39	chr3:110533400-110534800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:110533600-110534200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:110533600-110534200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr3:110533600-110534200	Enhancers	Duodenum Mucosa	Duodenum
43	chr3:110533600-110534400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:110533800-110534200	Enhancers	Fetal Intestine Large	intestine
45	chr3:110533800-110534200	Active TSS	GM12878-XiMat	blood
46	chr3:110533800-110534800	Enhancers	NHLF	lung
47	chr3:110534200-110535000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:110534200-110535000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:110534200-110535000	Enhancers	Osteobl	bone
50	chr3:110534200-110535200	Enhancers	NH-A	brain

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