Variant report

Variant	esv2762494
Chromosome Location	chr2:37802996-37813373
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:37807890..37810236-chr2:37813003..37815246,2	K562	blood:
2	chr2:37810267..37812004-chr2:37812621..37814787,2	MCF-7	breast:
3	chr2:37804698..37807657-chr2:37813185..37814836,2	K562	blood:
4	chr2:37799670..37802467-chr2:37802654..37804539,2	MCF-7	breast:
5	chr2:37810708..37813206-chr2:37814020..37815979,2	K562	blood:
6	chr2:37789729..37791788-chr2:37804945..37807693,2	K562	blood:
7	chr2:37795029..37797811-chr2:37802354..37805859,3	K562	blood:
8	chr2:37807890..37810236-chr2:37813003..37815246,2	K562	blood:
9	chr2:37804698..37807657-chr2:37813185..37814836,2	K562	blood:
10	chr2:37782232..37784356-chr2:37804122..37805641,2	MCF-7	breast:
11	chr2:37810267..37812004-chr2:37812621..37814787,2	MCF-7	breast:

No data

Extended variants
information (count: 426 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:426 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181600020	chr2:37803002-37803003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373491196	chr2:37803080-37803081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530578487	chr2:37803122-37803123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548882203	chr2:37803191-37803192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567195837	chr2:37803194-37803195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201513494	chr2:37803344-37803345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574787787	chr2:37803409-37803410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546561564	chr2:37803429-37803430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571297896	chr2:37803478-37803479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184717744	chr2:37803488-37803489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538726760	chr2:37803506-37803507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141474954	chr2:37803522-37803523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147473767	chr2:37803528-37803529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188198867	chr2:37803538-37803539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555320744	chr2:37803542-37803543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573554410	chr2:37803545-37803546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540300857	chr2:37803573-37803574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565271379	chr2:37803630-37803631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139892785	chr2:37803651-37803652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544695406	chr2:37803665-37803666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562807984	chr2:37803683-37803684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6747152	chr2:37803690-37803691	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs548746558	chr2:37803717-37803718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114580221	chr2:37803718-37803719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs180682767	chr2:37803745-37803746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546327865	chr2:37803854-37803855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571227858	chr2:37803873-37803874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538213196	chr2:37803897-37803898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550664185	chr2:37803908-37803909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568942376	chr2:37803932-37803933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34767184	chr2:37803990-37803991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397715934	chr2:37803991-37803992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114320434	chr2:37804012-37804013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115508871	chr2:37804050-37804051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11687796	chr2:37804127-37804128	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs186360129	chr2:37804132-37804133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558938818	chr2:37804155-37804156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72870300	chr2:37804183-37804184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544252811	chr2:37804205-37804206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556268708	chr2:37804224-37804225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574578415	chr2:37804292-37804293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565105561	chr2:37804303-37804304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532331646	chr2:37804327-37804328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143860612	chr2:37804392-37804393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12712538	chr2:37804408-37804409	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs190754819	chr2:37804441-37804442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181828984	chr2:37804468-37804469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187076316	chr2:37804518-37804519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564996611	chr2:37804527-37804528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191561904	chr2:37804555-37804556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Autism	22495311	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	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:432 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37796400-37809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:37796600-37810200	Weak transcription	Pancreas	Pancrea
3	chr2:37798400-37804200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:37798600-37806400	Weak transcription	K562	blood
5	chr2:37799200-37812400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:37801200-37803800	Weak transcription	NHEK	skin
7	chr2:37801400-37803800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:37801400-37804000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:37801400-37807600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:37801600-37803600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:37801600-37803600	Weak transcription	HMEC	breast
12	chr2:37801600-37803800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:37801600-37803800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:37801600-37803800	Weak transcription	HSMM	muscle
15	chr2:37801600-37804200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:37801600-37804200	Weak transcription	Hela-S3	cervix
17	chr2:37801600-37804200	Weak transcription	NH-A	brain
18	chr2:37801600-37804200	Weak transcription	NHDF-Ad	bronchial
19	chr2:37801600-37804200	Weak transcription	NHLF	lung
20	chr2:37801600-37806200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:37801600-37809600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:37801800-37803600	Weak transcription	Osteobl	bone
23	chr2:37801800-37803800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:37801800-37804200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:37802000-37803600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:37802000-37804200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:37802000-37812400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:37803600-37804600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:37803600-37804600	Enhancers	Osteobl	bone
30	chr2:37803600-37804800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:37803600-37805200	Enhancers	HMEC	breast
32	chr2:37803800-37804400	Enhancers	NHEK	skin
33	chr2:37803800-37804600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:37803800-37804800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:37803800-37804800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:37803800-37804800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:37804000-37804200	Enhancers	HSMM	muscle
38	chr2:37804000-37804400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:37804200-37804400	Enhancers	Hela-S3	cervix
40	chr2:37804200-37804400	Enhancers	NHDF-Ad	bronchial
41	chr2:37804200-37804400	Enhancers	NHLF	lung
42	chr2:37804200-37804600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:37804200-37804600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:37804200-37804600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:37804200-37804600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr2:37804200-37804600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:37804200-37804800	Enhancers	NH-A	brain
48	chr2:37804400-37805800	Weak transcription	NHDF-Ad	bronchial
49	chr2:37804400-37806400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:37804400-37809400	Weak transcription	Primary T cells from cord blood	blood

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