Variant report

Variant	nsv982972
Chromosome Location	chr11:4229419-4232936
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	chr11:4216149..4218781-chr11:4227899..4229558,2	K562	blood:
2	chr11:4228086..4230506-chr11:4230807..4233604,2	K562	blood:

Variant related genes	Relation type
ENSG00000255387	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565085948	chr11:4229422-4229423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs569074082	chr11:4229466-4229467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531502898	chr11:4229468-4229469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551520130	chr11:4229507-4229508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573256668	chr11:4229532-4229533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540358360	chr11:4229587-4229588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527438459	chr11:4229601-4229602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200555508	chr11:4229630-4229631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561973669	chr11:4229650-4229651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529442693	chr11:4229699-4229700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550904392	chr11:4229725-4229726	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562802523	chr11:4229773-4229774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1837977	chr11:4229788-4229789	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533583060	chr11:4229800-4229801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547367367	chr11:4229809-4229810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551327575	chr11:4229812-4229813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566460254	chr11:4229939-4229940	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182819074	chr11:4229949-4229950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs4087185	chr11:4229982-4229983	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs567510983	chr11:4230018-4230019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538028572	chr11:4230019-4230020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs201389017	chr11:4230030-4230031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529986690	chr11:4230117-4230118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs35721677	chr11:4230146-4230147	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556504229	chr11:4230224-4230225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536962286	chr11:4230234-4230235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34778137	chr11:4230275-4230276	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150120523	chr11:4230276-4230277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539466461	chr11:4230282-4230283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs397772562	chr11:4230283-4230284	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10835748	chr11:4230284-4230285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs202202552	chr11:4230301-4230302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77403069	chr11:4230308-4230309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200071991	chr11:4230309-4230310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs140171544	chr11:4230310-4230311	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370968691	chr11:4230311-4230312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573136832	chr11:4230321-4230322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1971163	chr11:4230332-4230333	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187494998	chr11:4230335-4230336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79985301	chr11:4230352-4230353	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573906827	chr11:4230388-4230389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs191546845	chr11:4230510-4230511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184979968	chr11:4230523-4230524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533641459	chr11:4230527-4230528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545360658	chr11:4230584-4230585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538831904	chr11:4230592-4230593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73427039	chr11:4230610-4230611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs77864031	chr11:4230675-4230676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549100612	chr11:4230796-4230797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs187443827	chr11:4230798-4230799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4228200-4233200	Weak transcription	Ovary	ovary
2	chr11:4231400-4231600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:4231600-4231800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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