Variant report

Variant	esv10816
Chromosome Location	chr3:89394021-89418291
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	chr3:89374528..89377645-chr3:89392593..89395332,3	MCF-7	breast:

Extended variants
information (count: 890 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:890 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568497220	chr3:89394049-89394050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113010199	chr3:89394096-89394097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7631682	chr3:89394143-89394144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181736156	chr3:89394163-89394164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529780178	chr3:89394179-89394180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117144566	chr3:89394186-89394187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138871824	chr3:89394200-89394201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201960963	chr3:89394216-89394217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557534494	chr3:89394239-89394240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142893050	chr3:89394243-89394244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570957343	chr3:89394285-89394286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377713397	chr3:89394303-89394304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143605588	chr3:89394321-89394322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571884406	chr3:89394435-89394436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147970757	chr3:89394438-89394439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550940161	chr3:89394443-89394444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569295801	chr3:89394448-89394449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571578391	chr3:89394456-89394457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536340613	chr3:89394461-89394462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116269589	chr3:89394502-89394503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539891743	chr3:89394542-89394543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9860266	chr3:89394547-89394548	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115340119	chr3:89394569-89394570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558599079	chr3:89394570-89394571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577045229	chr3:89394581-89394582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537477444	chr3:89394584-89394585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141639852	chr3:89394647-89394648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186447062	chr3:89394648-89394649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541956516	chr3:89394665-89394666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191275702	chr3:89394666-89394667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560255903	chr3:89394682-89394683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573500960	chr3:89394706-89394707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540800700	chr3:89394745-89394746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528144226	chr3:89394756-89394757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369063829	chr3:89394757-89394758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9823081	chr3:89394769-89394770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9843016	chr3:89394770-89394771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565477221	chr3:89394779-89394780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375284403	chr3:89394840-89394841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111477928	chr3:89394845-89394846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550742575	chr3:89394846-89394847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61263861	chr3:89394856-89394857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566171244	chr3:89394872-89394873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529995618	chr3:89394873-89394874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548289302	chr3:89394878-89394879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566597774	chr3:89394900-89394901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9843305	chr3:89394917-89394918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9823398	chr3:89394918-89394919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533765313	chr3:89395012-89395013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370630907	chr3:89395034-89395035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
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
Acute lymphoblastic leukemia	20435627	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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Soft tissue tumor	16732325	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Non-small cell lung cancer	21829676	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89391000-89394400	Weak transcription	Fetal Brain Female	brain
2	chr3:89392600-89417400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:89393200-89394400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:89394400-89394600	Enhancers	Fetal Brain Female	brain
5	chr3:89400200-89401000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:89400200-89401000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:89400600-89401000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:89401000-89401200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:89401000-89401200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr3:89402200-89403200	Enhancers	Hela-S3	cervix
11	chr3:89404400-89417600	Weak transcription	Brain Germinal Matrix	brain
12	chr3:89407400-89407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr3:89407800-89409000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:89409000-89409800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:89409200-89409400	Enhancers	Fetal Lung	lung
16	chr3:89409200-89409600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:89409200-89409800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:89409200-89409800	Enhancers	Hela-S3	cervix
19	chr3:89409200-89410000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:89409400-89409800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:89409400-89410000	Enhancers	NHDF-Ad	bronchial
22	chr3:89409400-89410600	Weak transcription	Fetal Lung	lung
23	chr3:89409600-89410000	Enhancers	NH-A	brain
24	chr3:89410200-89410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:89410200-89410400	Enhancers	Fetal Brain Female	brain
26	chr3:89410400-89412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:89410400-89421200	Weak transcription	Fetal Brain Female	brain
28	chr3:89410600-89414000	Enhancers	Fetal Lung	lung
29	chr3:89411600-89411800	Enhancers	Fetal Muscle Leg	muscle
30	chr3:89411800-89412600	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:89412600-89413400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:89412600-89413400	Enhancers	Fetal Muscle Leg	muscle
33	chr3:89413200-89413600	Enhancers	Rectal Smooth Muscle	rectum
34	chr3:89413400-89413800	Enhancers	Ovary	ovary
35	chr3:89413400-89415200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:89414000-89418000	Weak transcription	Fetal Lung	lung
37	chr3:89415800-89417200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:89417200-89417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:89417200-89418000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:89417400-89417800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:89417600-89417800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:89417600-89418000	ZNF genes & repeats	Brain Germinal Matrix	brain
43	chr3:89417800-89433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:89418000-89418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:89418000-89421000	Weak transcription	Brain Germinal Matrix	brain

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