Variant report

Variant	nsv525082
Chromosome Location	chr3:100699827-100703124
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	chr1:201738761..201739494-chr3:100699132..100700073,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7647099	chr3:100699827-100699828	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184228196	chr3:100699837-100699838	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142058493	chr3:100699877-100699878	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542221554	chr3:100699914-100699915	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563643739	chr3:100699997-100699998	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576023493	chr3:100700024-100700025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs80228355	chr3:100700087-100700088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397763577	chr3:100700098-100700099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74612032	chr3:100700099-100700100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546436653	chr3:100700137-100700138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564525462	chr3:100700196-100700197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372076764	chr3:100700271-100700272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528679201	chr3:100700324-100700325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189339490	chr3:100700375-100700376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559381549	chr3:100700389-100700390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145901574	chr3:100700404-100700405	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6791404	chr3:100700411-100700412	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180897391	chr3:100700484-100700485	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372639637	chr3:100700486-100700487	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569272206	chr3:100700494-100700495	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536953353	chr3:100700495-100700496	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529718200	chr3:100700511-100700512	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186079359	chr3:100700520-100700521	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570596307	chr3:100700543-100700544	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138810697	chr3:100700594-100700595	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375095982	chr3:100700627-100700628	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs114894871	chr3:100700646-100700647	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575007593	chr3:100700694-100700695	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs367965310	chr3:100700714-100700715	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs66827303	chr3:100700716-100700717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569538129	chr3:100700797-100700798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs189509223	chr3:100700802-100700803	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546223519	chr3:100700862-100700863	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564789786	chr3:100700866-100700867	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573389904	chr3:100700897-100700898	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs573028243	chr3:100700916-100700917	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs542035901	chr3:100700919-100700920	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181534903	chr3:100700950-100700951	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561913908	chr3:100700966-100700967	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs530571378	chr3:100700996-100700997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529751512	chr3:100701004-100701005	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs541480103	chr3:100701006-100701007	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs562994618	chr3:100701007-100701008	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11276541	chr3:100701020-100701021	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs66624552	chr3:100701022-100701023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200265306	chr3:100701025-100701026	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs530415956	chr3:100701078-100701079	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149304542	chr3:100701133-100701134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs374871567	chr3:100701134-100701135	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs143589731	chr3:100701137-100701138	Enhancers Weak transcription Flanking Active TSS	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	18451855	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100688400-100701800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:100692000-100700200	Weak transcription	HSMM	muscle
3	chr3:100692200-100701400	Weak transcription	Fetal Lung	lung
4	chr3:100692600-100711200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:100693000-100700400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:100694800-100700000	Weak transcription	Ovary	ovary
7	chr3:100696200-100702200	Enhancers	Fetal Stomach	stomach
8	chr3:100698000-100700000	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:100698000-100700000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:100698000-100701600	Weak transcription	Psoas Muscle	Psoas
11	chr3:100698400-100701400	Weak transcription	NHLF	lung
12	chr3:100698600-100700000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:100698600-100700600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:100698800-100700200	Weak transcription	Osteobl	bone
15	chr3:100699600-100700400	Enhancers	Stomach Smooth Muscle	stomach
16	chr3:100699800-100700200	Weak transcription	Colon Smooth Muscle	Colon
17	chr3:100699800-100700400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:100699800-100700400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:100699800-100700800	Enhancers	HSMMtube	muscle
20	chr3:100699800-100700800	Enhancers	NHDF-Ad	bronchial
21	chr3:100699800-100701200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:100700000-100700400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:100700000-100700400	Enhancers	Right Atrium	heart
24	chr3:100700000-100701400	Enhancers	Ovary	ovary
25	chr3:100700000-100701400	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:100700000-100702200	Enhancers	Fetal Muscle Leg	muscle
27	chr3:100700200-100700400	Enhancers	Aorta	Aorta
28	chr3:100700200-100700400	Enhancers	Esophagus	oesophagus
29	chr3:100700200-100700800	Enhancers	HSMM	muscle
30	chr3:100700200-100701400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr3:100700200-100701400	Enhancers	Colon Smooth Muscle	Colon
32	chr3:100700200-100701400	Enhancers	Osteobl	bone
33	chr3:100700400-100700600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr3:100700400-100700800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:100700400-100701400	Weak transcription	Right Atrium	heart
36	chr3:100700400-100701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr3:100700400-100701600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr3:100700400-100702000	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr3:100700400-100711200	Weak transcription	Esophagus	oesophagus
40	chr3:100700600-100700800	Enhancers	Adipose Nuclei	Adipose
41	chr3:100700600-100701200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:100700600-100701400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr3:100700800-100701200	Weak transcription	HSMM	muscle
44	chr3:100700800-100701200	Weak transcription	HSMMtube	muscle
45	chr3:100700800-100701400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:100700800-100701400	Weak transcription	NHDF-Ad	bronchial
47	chr3:100700800-100701600	Weak transcription	Adipose Nuclei	Adipose
48	chr3:100701000-100701400	Enhancers	Gastric	stomach
49	chr3:100701200-100701400	Enhancers	HSMM	muscle
50	chr3:100701200-100701400	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links