Variant report

Variant	esv1795329
Chromosome Location	chr3:100514481-100522384
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	chr3:100520717..100523501-chr7:140980485..140982614,2	MCF-7	breast:
2	chr3:100322069..100322963-chr3:100515153..100515789,2	MCF-7	breast:

Extended variants
information (count: 265 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:265 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12696195	chr3:100514481-100514482	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147376752	chr3:100514541-100514542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532476362	chr3:100514684-100514685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370276660	chr3:100514767-100514768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540228844	chr3:100514837-100514838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73152412	chr3:100514848-100514849	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs573294841	chr3:100514897-100514898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139596350	chr3:100514899-100514900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562413048	chr3:100514946-100514947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145215020	chr3:100514970-100514971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544832803	chr3:100514978-100514979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368336363	chr3:100514997-100514998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559625899	chr3:100515033-100515034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116607833	chr3:100515040-100515041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17217852	chr3:100515056-100515057	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs547721679	chr3:100515066-100515067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35969310	chr3:100515092-100515093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73861214	chr3:100515195-100515196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201011497	chr3:100515198-100515199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370814093	chr3:100515215-100515216	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60218883	chr3:100515237-100515238	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186649663	chr3:100515254-100515255	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202185024	chr3:100515259-100515260	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376459130	chr3:100515280-100515281	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370188378	chr3:100515296-100515297	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374531260	chr3:100515297-100515298	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367999543	chr3:100515301-100515302	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571936608	chr3:100515325-100515326	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189709798	chr3:100515337-100515338	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554029511	chr3:100515367-100515368	Weak transcription Strong transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116391437	chr3:100515449-100515450	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs139604715	chr3:100515499-100515500	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs13322026	chr3:100515538-100515539	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs573321482	chr3:100515677-100515678	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs180784523	chr3:100515695-100515696	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs369154017	chr3:100515729-100515730	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577467874	chr3:100515768-100515769	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545284825	chr3:100515773-100515774	Weak transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs112175938	chr3:100515816-100515817	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148737688	chr3:100515821-100515822	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149747962	chr3:100515844-100515845	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542783742	chr3:100515851-100515852	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373963912	chr3:100515856-100515857	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561340350	chr3:100515867-100515868	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145680467	chr3:100515900-100515901	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140506846	chr3:100515953-100515954	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571975743	chr3:100515976-100515977	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532905671	chr3:100516030-100516031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548061392	chr3:100516031-100516032	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566178330	chr3:100516032-100516033	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100475600-100520000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr3:100494800-100523400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr3:100501200-100516600	Weak transcription	HSMM	muscle
4	chr3:100502200-100518600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:100502400-100530400	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:100502600-100516800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:100505000-100515400	Weak transcription	Adipose Nuclei	Adipose
8	chr3:100505000-100515400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:100505000-100516600	Weak transcription	Left Ventricle	heart
10	chr3:100505200-100515200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:100505200-100515200	Weak transcription	Fetal Stomach	stomach
12	chr3:100505200-100515400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:100505200-100515400	Weak transcription	HUVEC	blood vessel
14	chr3:100505200-100558200	Weak transcription	Ovary	ovary
15	chr3:100505200-100582800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:100505800-100515400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:100505800-100515400	Weak transcription	Fetal Lung	lung
18	chr3:100506000-100548400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:100507000-100515400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:100509200-100515400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:100509200-100515400	Weak transcription	NHDF-Ad	bronchial
22	chr3:100509200-100518200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:100513600-100523000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:100514200-100547600	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:100514400-100515400	Weak transcription	Osteobl	bone
26	chr3:100514400-100529000	Weak transcription	HSMMtube	muscle
27	chr3:100515200-100515400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:100515200-100515600	Active TSS	GM12878-XiMat	blood
29	chr3:100515200-100518800	Enhancers	Fetal Stomach	stomach
30	chr3:100515400-100515600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:100515400-100515600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:100515400-100515600	Enhancers	Adipose Nuclei	Adipose
33	chr3:100515400-100515600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr3:100515400-100515600	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr3:100515400-100515600	Enhancers	Osteobl	bone
36	chr3:100515400-100515800	Enhancers	Liver	Liver
37	chr3:100515400-100515800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr3:100515400-100515800	Enhancers	NHLF	lung
39	chr3:100515400-100516000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:100515400-100516000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:100515400-100516000	Enhancers	Duodenum Mucosa	Duodenum
42	chr3:100515400-100516200	Enhancers	HUVEC	blood vessel
43	chr3:100515400-100516400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr3:100515400-100517200	Enhancers	Fetal Lung	lung
45	chr3:100515400-100521800	Enhancers	NHDF-Ad	bronchial
46	chr3:100515600-100516000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:100515600-100519200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr3:100515600-100522600	Weak transcription	Osteobl	bone
49	chr3:100515800-100516000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:100515800-100517400	Enhancers	Duodenum Smooth Muscle	Duodenum

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