Variant report

Variant	nsv982919
Chromosome Location	chr11:3653349-3655641
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	chr11:3652693..3655624-chr11:3656023..3659226,3	K562	blood:

Extended variants
information (count: 88 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537294183	chr11:3653391-3653392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559100131	chr11:3653431-3653432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577329066	chr11:3653453-3653454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559752218	chr11:3653467-3653468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60378510	chr11:3653478-3653479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541521287	chr11:3653540-3653541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186596328	chr11:3653559-3653560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146404400	chr11:3653568-3653569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148577681	chr11:3653572-3653573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535073577	chr11:3653681-3653682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141852734	chr11:3653705-3653706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150603346	chr11:3653729-3653730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7946799	chr11:3653733-3653734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs565097817	chr11:3653743-3653744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532160144	chr11:3653756-3653757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547485408	chr11:3653846-3653847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76165664	chr11:3653852-3653853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562978772	chr11:3653858-3653859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147896906	chr11:3653896-3653897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189438642	chr11:3653903-3653904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570057031	chr11:3653906-3653907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181672207	chr11:3653913-3653914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558941025	chr11:3653914-3653915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538449832	chr11:3653954-3653955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371296008	chr11:3653982-3653983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76943051	chr11:3653997-3653998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375619612	chr11:3654056-3654057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117672338	chr11:3654097-3654098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553536527	chr11:3654103-3654104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574963198	chr11:3654109-3654110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114207157	chr11:3654110-3654111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557381845	chr11:3654143-3654144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370533065	chr11:3654163-3654164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56410111	chr11:3654164-3654165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145157682	chr11:3654167-3654168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372699924	chr11:3654169-3654170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543703532	chr11:3654172-3654173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565005029	chr11:3654214-3654215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530296548	chr11:3654236-3654237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186004589	chr11:3654263-3654264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs559070094	chr11:3654329-3654330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191165881	chr11:3654359-3654360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183336612	chr11:3654360-3654361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139697608	chr11:3654369-3654370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372442962	chr11:3654378-3654379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530400853	chr11:3654396-3654397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574132069	chr11:3654440-3654441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34954455	chr11:3654455-3654456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186138073	chr11:3654459-3654460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571038008	chr11:3654463-3654464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3648200-3656200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:3648800-3662800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:3650200-3658400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:3650400-3654000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:3650400-3655600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:3654000-3654400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:3654400-3655600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:3655400-3655600	Active TSS	Gastric	stomach
9	chr11:3655600-3655800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:3655600-3656200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:3655600-3663000	Weak transcription	Gastric	stomach

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