Variant report

Variant	esv3375581
Chromosome Location	chr7:109256316-109258614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370068956	chr7:109256338-109256339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571399722	chr7:109256358-109256359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373385802	chr7:109256383-109256384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10953623	chr7:109256387-109256388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547235839	chr7:109256454-109256455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185041195	chr7:109256455-109256456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188311643	chr7:109256456-109256457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192212525	chr7:109256492-109256493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1607152	chr7:109256519-109256520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570340535	chr7:109256524-109256525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374236731	chr7:109256557-109256558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542241822	chr7:109256560-109256561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2690377	chr7:109256573-109256574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78388024	chr7:109256575-109256576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146457492	chr7:109256622-109256623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184411794	chr7:109256654-109256655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs67111772	chr7:109256655-109256656	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371010706	chr7:109256736-109256737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76631746	chr7:109256759-109256760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566174641	chr7:109256767-109256768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560279122	chr7:109256768-109256769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527460246	chr7:109256817-109256818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140856251	chr7:109256906-109256907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374432706	chr7:109256907-109256908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542291589	chr7:109256911-109256912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111863009	chr7:109256916-109256917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531205275	chr7:109256925-109256926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189180947	chr7:109256928-109256929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565194231	chr7:109257006-109257007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200590394	chr7:109257012-109257013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7789909	chr7:109257078-109257079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547594541	chr7:109257102-109257103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201473670	chr7:109257111-109257112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12537393	chr7:109257129-109257130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567449260	chr7:109257131-109257132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113855833	chr7:109257135-109257136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12539859	chr7:109257151-109257152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12537394	chr7:109257152-109257153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570581248	chr7:109257187-109257188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566628634	chr7:109257202-109257203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372325940	chr7:109257219-109257220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535990689	chr7:109257223-109257224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569521011	chr7:109257224-109257225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375953965	chr7:109257226-109257227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369770021	chr7:109257228-109257229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375154370	chr7:109257243-109257244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371446789	chr7:109257245-109257246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13229890	chr7:109257248-109257249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573020814	chr7:109257268-109257269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369413956	chr7:109257270-109257271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:109240800-109261800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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