Variant report

Variant	esv2757198
Chromosome Location	chr6:161935676-161936709
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs521641	chr6:161935676-161935677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76432416	chr6:161935680-161935681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142673235	chr6:161935689-161935690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540230775	chr6:161935719-161935720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559255324	chr6:161935759-161935760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528334598	chr6:161935799-161935800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191361908	chr6:161935805-161935806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78759043	chr6:161935830-161935831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558000822	chr6:161935869-161935870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564690865	chr6:161935878-161935879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530636638	chr6:161935901-161935902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550441181	chr6:161935918-161935919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545310	chr6:161935928-161935929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs535899717	chr6:161935929-161935930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143853926	chr6:161935931-161935932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375433210	chr6:161935955-161935956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539314724	chr6:161935959-161935960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540325252	chr6:161935974-161935975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75075174	chr6:161936011-161936012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34268780	chr6:161936044-161936045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183511793	chr6:161936063-161936064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17649505	chr6:161936066-161936067	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs529407551	chr6:161936077-161936078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540246994	chr6:161936091-161936092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186609985	chr6:161936120-161936121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148617078	chr6:161936138-161936139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112251532	chr6:161936223-161936224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548060	chr6:161936234-161936235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs142102243	chr6:161936238-161936239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530661328	chr6:161936243-161936244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113629686	chr6:161936259-161936260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537339039	chr6:161936264-161936265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560856094	chr6:161936267-161936268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs475158	chr6:161936277-161936278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs544197243	chr6:161936296-161936297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570437384	chr6:161936300-161936301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566432121	chr6:161936341-161936342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539350668	chr6:161936347-161936348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552946278	chr6:161936374-161936375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200003553	chr6:161936392-161936393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386707964	chr6:161936396-161936397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370043728	chr6:161936397-161936398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527392176	chr6:161936403-161936404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192761791	chr6:161936417-161936418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552560385	chr6:161936428-161936429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151178684	chr6:161936490-161936491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568481979	chr6:161936504-161936505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533982803	chr6:161936507-161936508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12527036	chr6:161936530-161936531	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184873648	chr6:161936587-161936588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161928200-161937000	Weak transcription	Psoas Muscle	Psoas
2	chr6:161934800-161936200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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