Variant report

Variant	esv2481148
Chromosome Location	chr7:124865782-124867260
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544956005	chr7:124865795-124865796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529015367	chr7:124865807-124865808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551124087	chr7:124865870-124865871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10268841	chr7:124865918-124865919	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560647170	chr7:124865920-124865921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545840812	chr7:124865926-124865927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150855060	chr7:124866016-124866017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552640320	chr7:124866021-124866022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568941315	chr7:124866049-124866050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187984120	chr7:124866081-124866082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs193073849	chr7:124866129-124866130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201557371	chr7:124866210-124866211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567984517	chr7:124866254-124866255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533992410	chr7:124866263-124866264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139841224	chr7:124866292-124866293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576957308	chr7:124866297-124866298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539205479	chr7:124866345-124866346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556271497	chr7:124866418-124866419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143870254	chr7:124866422-124866423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147323360	chr7:124866439-124866440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562344761	chr7:124866472-124866473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184569388	chr7:124866486-124866487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540914738	chr7:124866521-124866522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560571014	chr7:124866539-124866540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532721371	chr7:124866554-124866555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372452836	chr7:124866570-124866571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552290171	chr7:124866635-124866636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562605545	chr7:124866660-124866661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531616481	chr7:124866677-124866678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1377810	chr7:124866687-124866688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531336798	chr7:124866695-124866696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568023317	chr7:124866706-124866707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189407263	chr7:124866719-124866720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181364273	chr7:124866858-124866859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542202441	chr7:124867002-124867003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141068083	chr7:124867019-124867020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539586207	chr7:124867038-124867039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556316312	chr7:124867055-124867056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576160714	chr7:124867082-124867083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11768426	chr7:124867090-124867091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184357400	chr7:124867108-124867109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111508141	chr7:124867123-124867124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375632896	chr7:124867124-124867125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567725688	chr7:124867237-124867238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124862400-124866200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:124865400-124866400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:124865400-124869600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links