Variant report

Variant	esv2556237
Chromosome Location	chr7:103226419-103227903
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	chr7:103224194..103227224-chr7:103230117..103233349,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185272416	chr7:103226421-103226422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114536939	chr7:103226422-103226423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190912446	chr7:103226489-103226490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7792782	chr7:103226492-103226493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547320500	chr7:103226522-103226523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577357322	chr7:103226533-103226534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35526076	chr7:103226538-103226539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113849568	chr7:103226588-103226589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3095356	chr7:103226614-103226615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139657609	chr7:103226653-103226654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3109325	chr7:103226667-103226668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs2711871	chr7:103226717-103226718	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183968798	chr7:103226742-103226743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187303150	chr7:103226766-103226767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376227321	chr7:103226767-103226768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539915046	chr7:103226771-103226772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140731221	chr7:103226788-103226789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574654076	chr7:103226791-103226792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556850825	chr7:103226807-103226808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563871210	chr7:103226829-103226830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191669223	chr7:103226842-103226843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545909132	chr7:103226843-103226844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182896942	chr7:103226844-103226845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149764982	chr7:103226849-103226850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2535778	chr7:103226860-103226861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2711870	chr7:103226907-103226908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs34919600	chr7:103226916-103226917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554107719	chr7:103226990-103226991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377556115	chr7:103227014-103227015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572087640	chr7:103227029-103227030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117496730	chr7:103227056-103227057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550731101	chr7:103227106-103227107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569091487	chr7:103227144-103227145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532768226	chr7:103227181-103227182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115373262	chr7:103227190-103227191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557356617	chr7:103227225-103227226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148996847	chr7:103227260-103227261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533652601	chr7:103227267-103227268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116085505	chr7:103227277-103227278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573396644	chr7:103227315-103227316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34795722	chr7:103227322-103227323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398047919	chr7:103227324-103227325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs187533325	chr7:103227404-103227405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557511834	chr7:103227434-103227435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115893198	chr7:103227446-103227447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546448837	chr7:103227462-103227463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375879968	chr7:103227498-103227499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2711869	chr7:103227512-103227513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs573232627	chr7:103227527-103227528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191648645	chr7:103227558-103227559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	21147910	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103206000-103243400	Weak transcription	K562	blood
2	chr7:103220200-103229000	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links