Variant report

Variant	esv32641
Chromosome Location	chr7:5864821-5867788
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	chr7:5866466..5869217-chr7:5871734..5873608,2	MCF-7	breast:

Extended variants
information (count: 193 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552251861	chr7:5864824-5864825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535681093	chr7:5864830-5864831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372980181	chr7:5864831-5864832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376207001	chr7:5864832-5864833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539080039	chr7:5864843-5864844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536697665	chr7:5864848-5864849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78540828	chr7:5864860-5864861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192534486	chr7:5864886-5864887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74376813	chr7:5864911-5864912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115120058	chr7:5864928-5864929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113362366	chr7:5864929-5864930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573297497	chr7:5864934-5864935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184808704	chr7:5864965-5864966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112807045	chr7:5864966-5864967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1974766	chr7:5864980-5864981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574424123	chr7:5864982-5864983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111272323	chr7:5865011-5865012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560040690	chr7:5865014-5865015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578139592	chr7:5865016-5865017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545235608	chr7:5865030-5865031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564242674	chr7:5865033-5865034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372342124	chr7:5865038-5865039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531285095	chr7:5865047-5865048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1559005	chr7:5865048-5865049	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs561340940	chr7:5865062-5865063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7458415	chr7:5865069-5865070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575562665	chr7:5865090-5865091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140037715	chr7:5865095-5865096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190055298	chr7:5865128-5865129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547295176	chr7:5865137-5865138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74785288	chr7:5865164-5865165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193081439	chr7:5865167-5865168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551263692	chr7:5865187-5865188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184889204	chr7:5865195-5865196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537530227	chr7:5865209-5865210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74674507	chr7:5865210-5865211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115187449	chr7:5865212-5865213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534987647	chr7:5865276-5865277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189833841	chr7:5865283-5865284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77957017	chr7:5865296-5865297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34289731	chr7:5865300-5865301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545612261	chr7:5865308-5865309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368981214	chr7:5865313-5865314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79537347	chr7:5865375-5865376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141933745	chr7:5865410-5865411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs17135819	chr7:5865480-5865481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181054017	chr7:5865500-5865501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201699192	chr7:5865504-5865505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185090010	chr7:5865511-5865512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533072431	chr7:5865513-5865514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Schizophrenia	21346763	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5863400-5870600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:5863600-5866800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:5863600-5870800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:5863600-5874200	Weak transcription	Thymus	Thymus
5	chr7:5863600-5896800	Weak transcription	Esophagus	oesophagus
6	chr7:5863800-5870600	Weak transcription	Fetal Brain Female	brain
7	chr7:5863800-5871000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:5863800-5879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:5863800-5881600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:5863800-5887000	Weak transcription	Primary B cells from cord blood	blood
11	chr7:5863800-5891400	Weak transcription	Liver	Liver
12	chr7:5863800-5891400	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:5863800-5896200	Weak transcription	Adipose Nuclei	Adipose
14	chr7:5864000-5865400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr7:5864000-5865600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:5864000-5865600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr7:5864000-5867600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr7:5864000-5870800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:5864000-5880400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:5864200-5865000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr7:5864200-5865000	Enhancers	K562	blood
22	chr7:5864200-5865400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr7:5864200-5865600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:5864200-5865600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr7:5864200-5870600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr7:5864200-5870800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr7:5864200-5871000	Weak transcription	Spleen	Spleen
28	chr7:5864200-5873000	Weak transcription	HepG2	liver
29	chr7:5864200-5873200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:5864200-5880400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:5864200-5893600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:5864400-5865200	Enhancers	Primary T cells fromperipheralblood	blood
33	chr7:5864400-5865200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr7:5864400-5870600	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:5864600-5867000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:5864600-5872200	Weak transcription	Primary T cells from cord blood	blood
37	chr7:5864800-5865000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:5864800-5870000	Weak transcription	Fetal Brain Male	brain
39	chr7:5864800-5870800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:5864800-5872600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:5865200-5867000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr7:5865200-5867200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr7:5865400-5867400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:5865400-5867400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr7:5865600-5866800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr7:5865600-5867200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:5865600-5867400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:5865600-5872600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:5866800-5867000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr7:5866800-5867600	Genic enhancers	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links