Variant report

Variant	esv3392238
Chromosome Location	chr11:25064626-25066824
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	chr11:22849480..22851377-chr11:25062549..25065391,2	K562	blood:

Variant related genes	Relation type
ENSG00000246225	chromatin interactions
ENSG00000198168	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138892503	chr11:25064649-25064650	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs547062104	chr11:25064670-25064671	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76921211	chr11:25064671-25064672	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs181215533	chr11:25064684-25064685	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373236334	chr11:25064756-25064757	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs558636114	chr11:25064816-25064817	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs16913568	chr11:25064842-25064843	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs16913570	chr11:25064874-25064875	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554480237	chr11:25064876-25064877	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184200676	chr11:25064878-25064879	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551710660	chr11:25064888-25064889	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189592590	chr11:25064895-25064896	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553936489	chr11:25064925-25064926	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112182188	chr11:25064937-25064938	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576823472	chr11:25064970-25064971	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545900156	chr11:25065000-25065001	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs562441245	chr11:25065014-25065015	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs142063763	chr11:25065040-25065041	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs544904704	chr11:25065057-25065058	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs199960279	chr11:25065068-25065069	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs386751746	chr11:25065094-25065095	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10834589	chr11:25065096-25065097	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs201098581	chr11:25065106-25065107	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs72441466	chr11:25065107-25065108	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs74614698	chr11:25065119-25065120	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs552450764	chr11:25065130-25065131	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs12416801	chr11:25065131-25065132	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12418041	chr11:25065138-25065139	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201957168	chr11:25065144-25065145	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs199939609	chr11:25065145-25065146	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs570514792	chr11:25065186-25065187	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560745120	chr11:25065192-25065193	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs187662967	chr11:25065219-25065220	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs552273845	chr11:25065239-25065240	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559330865	chr11:25065246-25065247	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs150420194	chr11:25065290-25065291	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs371488158	chr11:25065317-25065318	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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