Variant report

Variant	esv1838188
Chromosome Location	chr3:110134108-110173739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
2	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
3	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
4	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:
5	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:
6	chr3:110136396..110138262-chr4:117404422..117405927,2	MCF-7	breast:

Extended variants
information (count: 778 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1512673	chr3:110134108-110134109	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114846557	chr3:110134113-110134114	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs9858880	chr3:110134129-110134130	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570275141	chr3:110134140-110134141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs1512674	chr3:110134163-110134164	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552287005	chr3:110134181-110134182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs376117027	chr3:110134195-110134196	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565519785	chr3:110134200-110134201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs115116678	chr3:110134218-110134219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185739590	chr3:110134223-110134224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191348282	chr3:110134268-110134269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1512675	chr3:110134336-110134337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs182837878	chr3:110134357-110134358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147608800	chr3:110134364-110134365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142482631	chr3:110134371-110134372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559031463	chr3:110134372-110134373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572313570	chr3:110134374-110134375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541443000	chr3:110134438-110134439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35417586	chr3:110134449-110134450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561516123	chr3:110134450-110134451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145105450	chr3:110134466-110134467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371907362	chr3:110134470-110134471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114099424	chr3:110134473-110134474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373677861	chr3:110134475-110134476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138424938	chr3:110134477-110134478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11270546	chr3:110134479-110134480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200576247	chr3:110134482-110134483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201933408	chr3:110134484-110134485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532772414	chr3:110134485-110134486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7649072	chr3:110134498-110134499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551960746	chr3:110134503-110134504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374113520	chr3:110134638-110134639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565784114	chr3:110134649-110134650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368379790	chr3:110134653-110134654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528038189	chr3:110134750-110134751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547786434	chr3:110134757-110134758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370887555	chr3:110134780-110134781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567764962	chr3:110134811-110134812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186066451	chr3:110134858-110134859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9990125	chr3:110134882-110134883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs144731670	chr3:110134923-110134924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77688670	chr3:110134934-110134935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539635014	chr3:110134957-110134958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6784411	chr3:110134974-110134975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572572128	chr3:110134999-110135000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575771717	chr3:110135017-110135018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571699852	chr3:110135030-110135031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77738267	chr3:110135065-110135066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76140284	chr3:110135066-110135067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535170049	chr3:110135111-110135112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110130200-110134800	Enhancers	NHDF-Ad	bronchial
2	chr3:110131400-110135000	Enhancers	HUVEC	blood vessel
3	chr3:110131800-110134800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:110132000-110134400	Enhancers	HMEC	breast
5	chr3:110132200-110134400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:110132200-110134400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:110132200-110134400	Enhancers	Liver	Liver
8	chr3:110132200-110134400	Enhancers	Hela-S3	cervix
9	chr3:110132200-110134400	Enhancers	NHLF	lung
10	chr3:110132200-110134800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:110132200-110134800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr3:110132200-110134800	Enhancers	HSMM	muscle
13	chr3:110132200-110134800	Enhancers	NHEK	skin
14	chr3:110132400-110134400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:110132400-110134800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:110132600-110138000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:110133000-110134400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:110133200-110134400	Enhancers	Osteobl	bone
19	chr3:110133200-110134600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:110133200-110134600	Enhancers	NH-A	brain
21	chr3:110133200-110134800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr3:110133200-110138600	Weak transcription	Adipose Nuclei	Adipose
23	chr3:110133200-110139200	Weak transcription	Ovary	ovary
24	chr3:110133200-110141600	Weak transcription	Aorta	Aorta
25	chr3:110133400-110134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:110133600-110135000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:110133600-110135800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr3:110133800-110134200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:110133800-110134200	Flanking Active TSS	A549	lung
30	chr3:110133800-110134400	Enhancers	HSMMtube	muscle
31	chr3:110133800-110135000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:110134000-110134400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:110134000-110134400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:110134200-110134400	Enhancers	A549	lung
35	chr3:110134200-110139000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:110134400-110137800	Weak transcription	Hela-S3	cervix
37	chr3:110134400-110138000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:110134400-110138000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:110134400-110138000	Weak transcription	A549	lung
40	chr3:110134400-110138000	Weak transcription	HMEC	breast
41	chr3:110134400-110138000	Weak transcription	NHLF	lung
42	chr3:110134400-110138000	Weak transcription	Osteobl	bone
43	chr3:110134400-110138200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:110134400-110139200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:110134400-110139200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:110134400-110139200	Weak transcription	HSMMtube	muscle
47	chr3:110134600-110138000	Weak transcription	NH-A	brain
48	chr3:110134600-110138200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:110134800-110137400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:110134800-110137400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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