Variant report

Variant	nsv824289
Chromosome Location	chr7:119395751-119398248
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	chr7:119397490..119400025-chr7:119421872..119424720,2	MCF-7	breast:

Extended variants
information (count: 81 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578079527	chr7:119395753-119395754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545677701	chr7:119395855-119395856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140375825	chr7:119395860-119395861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181711192	chr7:119395908-119395909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548442636	chr7:119395984-119395985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568269641	chr7:119395988-119395989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116360648	chr7:119396041-119396042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10264773	chr7:119396089-119396090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11543743	chr7:119396096-119396097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62477387	chr7:119396126-119396127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11536523	chr7:119396134-119396135	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539486585	chr7:119396150-119396151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184668741	chr7:119396184-119396185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576376370	chr7:119396190-119396191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542010638	chr7:119396222-119396223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555499950	chr7:119396291-119396292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575177641	chr7:119396323-119396324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572308826	chr7:119396349-119396350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79836113	chr7:119396352-119396353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562703890	chr7:119396370-119396371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77168884	chr7:119396413-119396414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374783302	chr7:119396441-119396442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189457954	chr7:119396448-119396449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377633433	chr7:119396452-119396453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78935602	chr7:119396455-119396456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531595052	chr7:119396477-119396478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143662105	chr7:119396483-119396484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548504146	chr7:119396505-119396506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180758188	chr7:119396513-119396514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568230978	chr7:119396526-119396527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549115150	chr7:119396546-119396547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374408815	chr7:119396548-119396549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527501503	chr7:119396605-119396606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547857709	chr7:119396623-119396624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561640792	chr7:119396640-119396641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138683249	chr7:119396666-119396667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78680761	chr7:119396683-119396684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116862835	chr7:119396716-119396717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185837713	chr7:119396719-119396720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191082743	chr7:119396811-119396812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146043544	chr7:119396816-119396817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs535704342	chr7:119396827-119396828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369747690	chr7:119396829-119396830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555662087	chr7:119396932-119396933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572288499	chr7:119396972-119396973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112065383	chr7:119396985-119396986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553827298	chr7:119397034-119397035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6946759	chr7:119397052-119397053	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34651892	chr7:119397178-119397179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533072322	chr7:119397217-119397218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119364800-119416000	Weak transcription	K562	blood
2	chr7:119393400-119396800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr7:119393400-119396800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr7:119393400-119397000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:119393600-119395800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:119395000-119396000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:119395000-119396000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:119395200-119396400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:119395400-119395800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:119395600-119397000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:119395800-119396400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr7:119395800-119396800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:119396000-119396400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:119396000-119397200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:119396400-119397000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:119396800-119400400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr7:119397000-119397200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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