Variant report

Variant	nsv966731
Chromosome Location	chr7:117985186-117987623
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114282386	chr7:117985188-117985189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs41979	chr7:117985209-117985210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs530872012	chr7:117985211-117985212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs41980	chr7:117985261-117985262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs567652038	chr7:117985266-117985267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147599846	chr7:117985284-117985285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553279672	chr7:117985286-117985287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185669277	chr7:117985288-117985289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538841269	chr7:117985318-117985319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556837090	chr7:117985327-117985328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190195342	chr7:117985417-117985418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140822171	chr7:117985425-117985426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554184268	chr7:117985448-117985449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115917917	chr7:117985522-117985523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs41981	chr7:117985591-117985592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs368622268	chr7:117985610-117985611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182006278	chr7:117985631-117985632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561883733	chr7:117985660-117985661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533426314	chr7:117985776-117985777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186598902	chr7:117985900-117985901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113077535	chr7:117985904-117985905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7811177	chr7:117985911-117985912	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145577222	chr7:117985944-117985945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs41982	chr7:117986026-117986027	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs567689639	chr7:117986027-117986028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs148894090	chr7:117986072-117986073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367595115	chr7:117986102-117986103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145572806	chr7:117986194-117986195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571527145	chr7:117986195-117986196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7811663	chr7:117986207-117986208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188656583	chr7:117986239-117986240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368067421	chr7:117986249-117986250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138788115	chr7:117986251-117986252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7811815	chr7:117986306-117986307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs17141248	chr7:117986308-117986309	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs554222893	chr7:117986322-117986323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572576495	chr7:117986347-117986348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533224969	chr7:117986356-117986357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560178535	chr7:117986395-117986396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181143057	chr7:117986402-117986403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558091316	chr7:117986405-117986406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185234250	chr7:117986407-117986408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs578201191	chr7:117986416-117986417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78704110	chr7:117986442-117986443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17141249	chr7:117986607-117986608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575725067	chr7:117986633-117986634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543212620	chr7:117986649-117986650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs569683247	chr7:117986682-117986683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189706210	chr7:117986691-117986692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377140627	chr7:117986702-117986703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117964400-117986800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:117984600-117986200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:117986000-117987800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:117986200-117987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:117986200-117987200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:117986200-117987800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:117986600-117987200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:117986800-117987000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:117987000-117987800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:117987200-117988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links