Variant report

Variant	esv3322415
Chromosome Location	chr2:39160473-39163021
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	chr2:39150662..39153390-chr2:39161113..39162620,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569331726	chr2:39160475-39160476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536851734	chr2:39160485-39160486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375299479	chr2:39160521-39160522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13429082	chr2:39160523-39160524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145789710	chr2:39160524-39160525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548770006	chr2:39160527-39160528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182300965	chr2:39160528-39160529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186427834	chr2:39160564-39160565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144258224	chr2:39160588-39160589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190843432	chr2:39160594-39160595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183062054	chr2:39160598-39160599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555852344	chr2:39160603-39160604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs389023	chr2:39160629-39160630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs112481396	chr2:39160698-39160699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572168732	chr2:39160711-39160712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535229237	chr2:39160733-39160734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541645747	chr2:39160773-39160774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185988525	chr2:39160784-39160785	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572340657	chr2:39160812-39160813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79410313	chr2:39160850-39160851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190360900	chr2:39160866-39160867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74430579	chr2:39160939-39160940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13429447	chr2:39161031-39161032	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183210069	chr2:39161050-39161051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187741772	chr2:39161055-39161056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146580655	chr2:39161085-39161086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114628772	chr2:39161137-39161138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534558209	chr2:39161161-39161162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552601109	chr2:39161176-39161177	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115286453	chr2:39161188-39161189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139546369	chr2:39161204-39161205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555711648	chr2:39161214-39161215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149719074	chr2:39161221-39161222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535163784	chr2:39161235-39161236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192714533	chr2:39161236-39161237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75939897	chr2:39161250-39161251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576328588	chr2:39161257-39161258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145586662	chr2:39161262-39161263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557782905	chr2:39161271-39161272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576255378	chr2:39161279-39161280	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562546647	chr2:39161293-39161294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182368491	chr2:39161294-39161295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77781124	chr2:39161363-39161364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530256045	chr2:39161381-39161382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577675575	chr2:39161387-39161388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542342143	chr2:39161400-39161401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377736002	chr2:39161410-39161411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs527892932	chr2:39161492-39161493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552705958	chr2:39161515-39161516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571081124	chr2:39161525-39161526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	16272173	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39110200-39186800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:39143800-39164600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:39145800-39172800	Weak transcription	Lung	lung
4	chr2:39147000-39166600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:39149000-39164800	Weak transcription	Ovary	ovary
6	chr2:39150000-39186600	Weak transcription	Brain Anterior Caudate	brain
7	chr2:39150400-39184800	Weak transcription	Psoas Muscle	Psoas
8	chr2:39155800-39174800	Weak transcription	Fetal Lung	lung
9	chr2:39156800-39172800	Weak transcription	Adipose Nuclei	Adipose
10	chr2:39159600-39161400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:39159600-39161400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:39160400-39161600	Enhancers	NHLF	lung
13	chr2:39160400-39163000	Weak transcription	Aorta	Aorta
14	chr2:39160400-39164600	Weak transcription	HepG2	liver
15	chr2:39160400-39186600	Weak transcription	Pancreas	Pancrea
16	chr2:39160800-39161200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:39161200-39164800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:39161400-39162400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:39161400-39172400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:39162000-39162800	Enhancers	Osteobl	bone
21	chr2:39162200-39162800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:39162200-39163800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:39162400-39163000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:39162400-39163200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:39162400-39163200	Enhancers	NH-A	brain
26	chr2:39162400-39163400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:39162600-39163200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:39162800-39163000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:39162800-39163000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:39162800-39163200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
31	chr2:39162800-39163200	Flanking Active TSS	Osteobl	bone
32	chr2:39162800-39163400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:39162800-39163600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:39163000-39163200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:39163000-39163600	Enhancers	NHEK	skin

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