Variant report

Variant	esv2762708
Chromosome Location	chr7:147714781-147717262
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 120 )
Associated
traits (count: 94 )

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	rs10952723	chr7:147714781-147714782	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558213733	chr7:147714785-147714786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189059368	chr7:147714829-147714830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181285708	chr7:147714830-147714831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186186175	chr7:147714872-147714873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189511886	chr7:147714881-147714882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566929180	chr7:147714882-147714883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535905690	chr7:147714892-147714893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6960266	chr7:147714893-147714894	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566698978	chr7:147714894-147714895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12539260	chr7:147714911-147714912	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558921310	chr7:147714934-147714935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575886174	chr7:147714936-147714937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180766558	chr7:147714944-147714945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554961149	chr7:147714965-147714966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553290831	chr7:147714971-147714972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574900173	chr7:147714982-147714983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79258704	chr7:147715040-147715041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369905154	chr7:147715041-147715042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150468447	chr7:147715064-147715065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374003984	chr7:147715151-147715152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375167659	chr7:147715200-147715201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577298500	chr7:147715214-147715215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369008193	chr7:147715230-147715231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138259574	chr7:147715253-147715254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560280506	chr7:147715254-147715255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371176547	chr7:147715289-147715290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs66949315	chr7:147715330-147715331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530785229	chr7:147715343-147715344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565330938	chr7:147715387-147715388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs36069216	chr7:147715394-147715395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529665285	chr7:147715482-147715483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62473288	chr7:147715523-147715524	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185999670	chr7:147715524-147715525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564569955	chr7:147715535-147715536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373889744	chr7:147715546-147715547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35294118	chr7:147715555-147715556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs191026075	chr7:147715581-147715582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569360053	chr7:147715587-147715588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4725758	chr7:147715594-147715595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181847357	chr7:147715601-147715602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186060665	chr7:147715608-147715609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534166151	chr7:147715628-147715629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73466190	chr7:147715637-147715638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190325439	chr7:147715676-147715677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545982626	chr7:147715680-147715681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4725759	chr7:147715702-147715703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs10266911	chr7:147715709-147715710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs75351691	chr7:147715748-147715749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4726908	chr7:147715749-147715750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147709200-147717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:147709600-147718400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:147711600-147716400	Enhancers	Fetal Lung	lung
4	chr7:147713400-147718600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:147715800-147716000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr7:147717200-147717400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
7	chr7:147717200-147717400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr7:147717200-147719200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:147717200-147719400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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