Variant report

Variant	esv1832597
Chromosome Location	chr2:51922567-51934748
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	chr17:57919582..57921747-chr2:51927078..51928640,2	MCF-7	breast:

Extended variants
information (count: 555 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17864582	chr2:51922567-51922568	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563214609	chr2:51922582-51922583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533314542	chr2:51922590-51922591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552011209	chr2:51922595-51922596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566999381	chr2:51922625-51922626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566960455	chr2:51922630-51922631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28961315	chr2:51922638-51922639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537088938	chr2:51922658-51922659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191173220	chr2:51922685-51922686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567587866	chr2:51922701-51922702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577301150	chr2:51922703-51922704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143043784	chr2:51922747-51922748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556156140	chr2:51922768-51922769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17864583	chr2:51922783-51922784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs538406591	chr2:51922790-51922791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552621998	chr2:51922825-51922826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150820655	chr2:51922863-51922864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542344619	chr2:51922876-51922877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376487331	chr2:51922883-51922884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560926614	chr2:51922923-51922924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs28961316	chr2:51922967-51922968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs374316151	chr2:51923002-51923003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529451277	chr2:51923006-51923007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543406477	chr2:51923035-51923036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138234014	chr2:51923049-51923050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569468205	chr2:51923050-51923051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543361177	chr2:51923089-51923090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538005912	chr2:51923101-51923102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17864584	chr2:51923109-51923110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74612332	chr2:51923118-51923119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149594659	chr2:51923143-51923144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527769895	chr2:51923144-51923145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78098800	chr2:51923157-51923158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567768963	chr2:51923232-51923233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188445576	chr2:51923251-51923252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550158583	chr2:51923261-51923262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114080377	chr2:51923267-51923268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191680894	chr2:51923330-51923331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553530230	chr2:51923331-51923332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565576043	chr2:51923379-51923380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539442962	chr2:51923420-51923421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552532207	chr2:51923439-51923440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570983826	chr2:51923449-51923450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536060762	chr2:51923478-51923479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183824908	chr2:51923481-51923482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550634024	chr2:51923518-51923519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535142342	chr2:51923529-51923530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572638175	chr2:51923555-51923556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576094541	chr2:51923556-51923557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201534153	chr2:51923580-51923581	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51922200-51922800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:51922400-51922800	Weak transcription	Osteobl	bone
3	chr2:51922400-51923800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:51922800-51924600	Enhancers	Osteobl	bone
5	chr2:51922800-51925000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:51923800-51924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:51923800-51924200	Enhancers	Liver	Liver
8	chr2:51924200-51924600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:51924200-51924600	Flanking Active TSS	Liver	Liver
10	chr2:51924200-51924800	Active TSS	A549	lung
11	chr2:51924400-51925000	Enhancers	HepG2	liver
12	chr2:51924400-51925200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:51924600-51926600	Enhancers	Liver	Liver
14	chr2:51924800-51925000	Flanking Active TSS	A549	lung
15	chr2:51924800-51925200	Enhancers	Fetal Intestine Small	intestine
16	chr2:51924800-51926000	Enhancers	Fetal Intestine Large	intestine
17	chr2:51925000-51925200	Active TSS	A549	lung
18	chr2:51925000-51927800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:51925200-51925600	Enhancers	A549	lung
20	chr2:51927800-51930400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr2:51930400-51932000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:51932000-51932600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:51932000-51933600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:51932600-51934600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:51933600-51934000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:51934000-51934200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr2:51934600-51936000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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