Variant report

Variant	nsv975957
Chromosome Location	chr11:85568898-85570138
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85569363..85572051-chr11:85778785..85781066,2	K562	blood:
2	chr11:85567478..85571407-chr11:85572544..85575436,3	MCF-7	breast:
3	chr11:85569234..85571636-chr11:85985144..85986966,2	K562	blood:
4	chr11:85566679..85569060-chr11:85698600..85700675,2	K562	blood:

Variant related genes	Relation type
ENSG00000073921	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566685446	chr11:85568909-85568910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139537569	chr11:85568913-85568914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142914145	chr11:85568959-85568960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115490357	chr11:85568974-85568975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115873429	chr11:85569000-85569001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534241167	chr11:85569024-85569025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556269402	chr11:85569037-85569038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569891867	chr11:85569043-85569044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79318741	chr11:85569054-85569055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538290518	chr11:85569105-85569106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370045284	chr11:85569143-85569144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180893911	chr11:85569188-85569189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540479068	chr11:85569228-85569229	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555549469	chr11:85569296-85569297	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537288418	chr11:85569305-85569306	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187393563	chr11:85569381-85569382	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562670224	chr11:85569383-85569384	Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533447689	chr11:85569441-85569442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558692946	chr11:85569512-85569513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201437993	chr11:85569515-85569516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560534172	chr11:85569523-85569524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146123539	chr11:85569532-85569533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577031451	chr11:85569572-85569573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567492560	chr11:85569579-85569580	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs117994918	chr11:85569610-85569611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190580165	chr11:85569626-85569627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181848631	chr11:85569655-85569656	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538724626	chr11:85569668-85569669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79902741	chr11:85569683-85569684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140166663	chr11:85569780-85569781	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs113284233	chr11:85569786-85569787	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs36119430	chr11:85569799-85569800	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185986429	chr11:85569803-85569804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12786917	chr11:85569826-85569827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2044390	chr11:85569834-85569835	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573973378	chr11:85569837-85569838	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538080571	chr11:85569889-85569890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556705279	chr11:85569897-85569898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143886362	chr11:85569901-85569902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs116782315	chr11:85569916-85569917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs373496222	chr11:85569919-85569920	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs190311430	chr11:85569944-85569945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572445961	chr11:85569967-85569968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543025102	chr11:85569974-85569975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs11234449	chr11:85570071-85570072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs561203684	chr11:85570078-85570079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371327014	chr11:85570088-85570089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85566800-85569200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:85566800-85570200	Weak transcription	Esophagus	oesophagus
3	chr11:85569200-85569400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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