Variant report

Variant	esv3475448
Chromosome Location	chr7:152577544-152581392
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	chr7:152579764..152582618-chr7:152582965..152586038,3	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542082496	chr7:152577595-152577596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560962153	chr7:152577602-152577603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572650849	chr7:152577675-152577676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543271896	chr7:152577685-152577686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555285971	chr7:152577702-152577703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372459522	chr7:152577826-152577827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77662208	chr7:152577835-152577836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369403937	chr7:152577836-152577837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544226698	chr7:152577850-152577851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562460613	chr7:152577867-152577868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532801614	chr7:152577886-152577887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545054777	chr7:152577887-152577888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372943017	chr7:152577898-152577899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376971756	chr7:152577903-152577904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533269905	chr7:152577955-152577956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79088369	chr7:152577994-152577995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567211910	chr7:152578002-152578003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189264128	chr7:152578004-152578005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373309556	chr7:152578007-152578008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549809612	chr7:152578008-152578009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376442251	chr7:152578044-152578045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181448720	chr7:152578046-152578047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538671474	chr7:152578065-152578066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186484265	chr7:152578110-152578111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566213940	chr7:152578122-152578123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536831834	chr7:152578136-152578137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555249096	chr7:152578137-152578138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576715288	chr7:152578172-152578173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190269386	chr7:152578179-152578180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559003973	chr7:152578209-152578210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577539528	chr7:152578211-152578212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182295540	chr7:152578218-152578219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186088158	chr7:152578229-152578230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190984928	chr7:152578236-152578237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542407971	chr7:152578248-152578249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534796101	chr7:152578249-152578250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554701356	chr7:152578253-152578254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201762814	chr7:152578271-152578272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200105051	chr7:152578272-152578273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183203985	chr7:152578280-152578281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565061829	chr7:152578290-152578291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532523315	chr7:152578291-152578292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185273869	chr7:152578294-152578295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556163214	chr7:152578296-152578297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373197172	chr7:152578297-152578298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566175372	chr7:152578308-152578309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370663538	chr7:152578314-152578315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530340659	chr7:152578316-152578317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12531445	chr7:152578319-152578320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570231321	chr7:152578332-152578333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152567200-152584200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:152573800-152581200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:152578000-152591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:152580600-152581600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:152580600-152581800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:152580800-152581000	Enhancers	Stomach Smooth Muscle	stomach
7	chr7:152580800-152581600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:152580800-152581800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:152580800-152582400	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:152581200-152581600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:152581200-152581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links