Variant report

Variant	esv1820283
Chromosome Location	chr7:127101187-127110765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127107163..127110084-chr7:127111933..127113799,2	K562	blood:
2	chr7:127102562..127104940-chr7:127107170..127110095,2	MCF-7	breast:
3	chr7:127108647..127111372-chr7:127114736..127117727,2	MCF-7	breast:
4	chr7:127102562..127104940-chr7:127107170..127110095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226770	chromatin interactions

Extended variants
information (count: 335 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7803925	chr7:127101187-127101188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550678974	chr7:127101280-127101281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568833009	chr7:127101359-127101360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539537738	chr7:127101372-127101373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186512675	chr7:127101415-127101416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6976096	chr7:127101508-127101509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs528847753	chr7:127101561-127101562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78229898	chr7:127101564-127101565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6976225	chr7:127101585-127101586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573683818	chr7:127101761-127101762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192516983	chr7:127101807-127101808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544225370	chr7:127101809-127101810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6976434	chr7:127101880-127101881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs578008262	chr7:127101909-127101910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545493392	chr7:127102008-127102009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184702218	chr7:127102033-127102034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528339511	chr7:127102052-127102053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562747861	chr7:127102090-127102091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376525703	chr7:127102122-127102123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13229504	chr7:127102132-127102133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546905259	chr7:127102184-127102185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561994892	chr7:127102187-127102188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529227454	chr7:127102207-127102208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6977367	chr7:127102282-127102283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551640605	chr7:127102287-127102288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568846740	chr7:127102293-127102294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571449285	chr7:127102301-127102302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537369203	chr7:127102327-127102328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6963346	chr7:127102428-127102429	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187516586	chr7:127102440-127102441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566943307	chr7:127102475-127102476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534158857	chr7:127102542-127102543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6963511	chr7:127102546-127102547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534739543	chr7:127102605-127102606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs386717652	chr7:127102639-127102640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71522247	chr7:127102640-127102641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61544985	chr7:127102681-127102682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs193079684	chr7:127102688-127102689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529517586	chr7:127102703-127102704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150357996	chr7:127102743-127102744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560673788	chr7:127102782-127102783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534778885	chr7:127102811-127102812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573057694	chr7:127102919-127102920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543809571	chr7:127102954-127102955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557585454	chr7:127102962-127102963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562104447	chr7:127102994-127102995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529163513	chr7:127103175-127103176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377063483	chr7:127103208-127103209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184889316	chr7:127103233-127103234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562340876	chr7:127103245-127103246	Weak transcription	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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Glioblastoma multiforme	21510904	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127097400-127116000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links