Variant report

Variant	esv3440755
Chromosome Location	chr3:98666311-98680865
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	chr3:98675333..98676915-chr3:98681651..98683756,2	MCF-7	breast:

Extended variants
information (count: 519 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74737294	chr3:98666311-98666312	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78907879	chr3:98666312-98666313	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs62276866	chr3:98666314-98666315	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs10575436	chr3:98666315-98666316	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs62276867	chr3:98666317-98666318	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188544699	chr3:98666343-98666344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs146971930	chr3:98666428-98666429	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574090416	chr3:98666439-98666440	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs193136366	chr3:98666469-98666470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147611873	chr3:98666470-98666471	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs570411609	chr3:98666473-98666474	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530498004	chr3:98666499-98666500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs369508430	chr3:98666632-98666633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534344688	chr3:98666652-98666653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184625796	chr3:98666656-98666657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550650173	chr3:98666701-98666702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567107911	chr3:98666726-98666727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186821775	chr3:98666730-98666731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549406790	chr3:98666760-98666761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566059490	chr3:98666774-98666775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534871893	chr3:98666850-98666851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191245350	chr3:98666861-98666862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574491540	chr3:98666881-98666882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541532185	chr3:98666916-98666917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537109540	chr3:98666958-98666959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557470635	chr3:98667007-98667008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573948682	chr3:98667141-98667142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536679743	chr3:98667164-98667165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553289903	chr3:98667168-98667169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75372475	chr3:98667223-98667224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183495490	chr3:98667255-98667256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189594415	chr3:98667273-98667274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575707053	chr3:98667317-98667318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115900041	chr3:98667349-98667350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114426328	chr3:98667351-98667352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543960202	chr3:98667363-98667364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561082944	chr3:98667365-98667366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565979847	chr3:98667381-98667382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35701276	chr3:98667396-98667397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2470878	chr3:98667420-98667421	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs2470877	chr3:98667521-98667522	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs181185024	chr3:98667525-98667526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112370886	chr3:98667526-98667527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528731776	chr3:98667548-98667549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551667366	chr3:98667550-98667551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571498521	chr3:98667594-98667595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537698448	chr3:98667604-98667605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149235787	chr3:98667613-98667614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185238728	chr3:98667624-98667625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143404982	chr3:98667625-98667626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98663200-98667200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:98664000-98666400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:98664200-98668400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:98664800-98673000	Weak transcription	Osteobl	bone
5	chr3:98666200-98666600	Flanking Active TSS	NHDF-Ad	bronchial
6	chr3:98666400-98670600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:98666600-98667000	Enhancers	NHDF-Ad	bronchial
8	chr3:98667000-98672400	Weak transcription	NHDF-Ad	bronchial
9	chr3:98667200-98667400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:98667400-98667800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:98667800-98671400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:98668400-98669400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:98668600-98670200	Weak transcription	A549	lung
14	chr3:98669400-98672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:98670200-98670400	Enhancers	A549	lung
16	chr3:98670400-98673600	Weak transcription	A549	lung
17	chr3:98670600-98671600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:98670600-98671600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:98670600-98675600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:98671200-98671800	Enhancers	Lung	lung
21	chr3:98671400-98672000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:98671400-98672000	Enhancers	Fetal Muscle Leg	muscle
23	chr3:98671600-98671800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:98671600-98673600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:98672000-98672600	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:98672000-98672800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:98672000-98673000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:98672200-98674400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr3:98672400-98674400	Enhancers	HMEC	breast
30	chr3:98672400-98674600	Enhancers	Fetal Lung	lung
31	chr3:98672400-98675000	Enhancers	NHDF-Ad	bronchial
32	chr3:98672400-98675200	Enhancers	NHEK	skin
33	chr3:98672600-98674000	Active TSS	Fetal Muscle Leg	muscle
34	chr3:98672600-98674600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:98672800-98675600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:98673000-98673800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr3:98673000-98674000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:98673000-98674000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:98673000-98674400	Enhancers	Osteobl	bone
40	chr3:98673200-98673800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr3:98673200-98673800	Enhancers	HSMMtube	muscle
42	chr3:98673200-98674200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr3:98673200-98674200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:98673200-98674200	Enhancers	NH-A	brain
45	chr3:98673200-98674200	Enhancers	NHLF	lung
46	chr3:98673200-98674400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:98673200-98674400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:98673600-98674400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:98673600-98674400	Enhancers	A549	lung
50	chr3:98673600-98674400	Enhancers	Hela-S3	cervix

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