Variant report

Variant	nsv581504
Chromosome Location	chr2:40418386-40430611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:40427590..40429513-chr2:40436431..40438074,2	MCF-7	breast:
2	chr2:40430449..40432032-chr2:40434397..40435947,2	K562	blood:
3	chr2:40419927..40421772-chr2:40425195..40428157,2	MCF-7	breast:
4	chr2:40419927..40421772-chr2:40425195..40428157,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227028	chromatin interactions

Extended variants
information (count: 518 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:518 , 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	rs380975	chr2:40418386-40418387	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557557436	chr2:40418399-40418400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577412007	chr2:40418410-40418411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536790237	chr2:40418472-40418473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538006029	chr2:40418476-40418477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556448109	chr2:40418479-40418480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575173216	chr2:40418480-40418481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574758232	chr2:40418497-40418498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541842831	chr2:40418517-40418518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12998000	chr2:40418566-40418567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73924568	chr2:40418618-40418619	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs541916989	chr2:40418645-40418646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35336572	chr2:40418670-40418671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139817205	chr2:40418734-40418735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546320321	chr2:40418780-40418781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564421082	chr2:40418781-40418782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531539410	chr2:40418802-40418803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549963617	chr2:40418824-40418825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566105238	chr2:40418825-40418826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563228105	chr2:40418888-40418889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529178033	chr2:40418904-40418905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62148766	chr2:40418957-40418958	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565707561	chr2:40418958-40418959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11891921	chr2:40418963-40418964	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375790617	chr2:40418997-40418998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs551458198	chr2:40418998-40418999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546786725	chr2:40419002-40419003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561980533	chr2:40419010-40419011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs679339	chr2:40419011-40419012	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182952872	chr2:40419061-40419062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556309901	chr2:40419097-40419098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186744309	chr2:40419098-40419099	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs393711	chr2:40419158-40419159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554036634	chr2:40419190-40419191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572451410	chr2:40419196-40419197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557081224	chr2:40419223-40419224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377206972	chr2:40419225-40419226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143220773	chr2:40419239-40419240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191393469	chr2:40419241-40419242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569999721	chr2:40419246-40419247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183710243	chr2:40419339-40419340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187756489	chr2:40419346-40419347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529087481	chr2:40419390-40419391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147279566	chr2:40419504-40419505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368188359	chr2:40419505-40419506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552401978	chr2:40419506-40419507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559335936	chr2:40419531-40419532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11887546	chr2:40419533-40419534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368642	chr2:40419588-40419589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs384511	chr2:40419645-40419646	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
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
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
2	chr2:40400600-40426800	Weak transcription	Osteobl	bone
3	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:40405600-40421800	Weak transcription	Right Ventricle	heart
5	chr2:40407200-40419800	Weak transcription	HSMM	muscle
6	chr2:40411000-40424200	Weak transcription	HSMMtube	muscle
7	chr2:40412000-40421800	Weak transcription	Left Ventricle	heart
8	chr2:40415400-40418800	Enhancers	Fetal Heart	heart
9	chr2:40416000-40425800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
11	chr2:40417800-40419200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:40417800-40424200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:40417800-40424400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:40418000-40418400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:40418000-40418800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:40418200-40420000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr2:40418400-40420400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:40418600-40445800	Weak transcription	Dnd41	blood
20	chr2:40418800-40419000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:40418800-40420200	Weak transcription	Fetal Heart	heart
22	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:40419800-40420400	Enhancers	HSMM	muscle
24	chr2:40420000-40420400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:40420000-40420600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:40420000-40420600	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr2:40420000-40420600	Enhancers	NHLF	lung
28	chr2:40420000-40420800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:40420000-40420800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:40420000-40420800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:40420000-40420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:40420000-40420800	Enhancers	HMEC	breast
33	chr2:40420000-40420800	Enhancers	NHEK	skin
34	chr2:40420000-40421000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:40420000-40421000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:40420000-40421000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:40420000-40421000	Enhancers	Fetal Kidney	kidney
38	chr2:40420000-40421000	Enhancers	Hela-S3	cervix
39	chr2:40420000-40421200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:40420000-40422200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:40420000-40422600	Enhancers	Stomach Mucosa	stomach
42	chr2:40420000-40422800	Enhancers	Fetal Intestine Large	intestine
43	chr2:40420200-40420400	Enhancers	Fetal Heart	heart
44	chr2:40420200-40420600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:40420400-40420600	Flanking Active TSS	Fetal Heart	heart
46	chr2:40420400-40420600	Enhancers	Gastric	stomach
47	chr2:40420400-40421000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:40420400-40421000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr2:40420400-40421200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:40420400-40422600	Enhancers	Fetal Intestine Small	intestine

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