Variant report

Variant	nsv553175
Chromosome Location	chr11:4790268-4790564
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	11:4789513-4794705..11:4988858-5002113	Hela-S3	cervix:
2	11:4789513-4794705..11:5033143-5038367	K562	blood:
3	11:4789513-4794705..11:5380014-5384338	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000225003	chromatin interactions
ENSG00000224300	chromatin interactions
ENSG00000236248	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1030726	chr11:4790268-4790269	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143078520	chr11:4790270-4790271	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574092319	chr11:4790283-4790284	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs150702137	chr11:4790284-4790285	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs139690464	chr11:4790289-4790290	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs149782446	chr11:4790300-4790301	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs144710348	chr11:4790304-4790305	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs1030725	chr11:4790308-4790309	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs200012987	chr11:4790333-4790334	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs536873822	chr11:4790345-4790346	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145204134	chr11:4790346-4790347	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs201118576	chr11:4790354-4790355	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs369623823	chr11:4790355-4790356	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs147618500	chr11:4790378-4790379	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs142202588	chr11:4790386-4790387	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs17324609	chr11:4790396-4790397	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs1030724	chr11:4790410-4790411	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs577229061	chr11:4790441-4790442	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201795636	chr11:4790461-4790462	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs1030723	chr11:4790471-4790472	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs150300273	chr11:4790473-4790474	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs11033793	chr11:4790474-4790475	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114809738	chr11:4790475-4790476	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs12792898	chr11:4790482-4790483	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373726031	chr11:4790487-4790488	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs138403273	chr11:4790496-4790497	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs371059084	chr11:4790501-4790502	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs142987564	chr11:4790508-4790509	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs572315351	chr11:4790511-4790512	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs144384528	chr11:4790513-4790514	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs148379006	chr11:4790530-4790531	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs188896909	chr11:4790533-4790534	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs201497041	chr11:4790561-4790562	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs267602906	chr11:4790563-4790564	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs16938368	chr11:4790564-4790565	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:64)

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
Lung cancer	18438408	CNVD
Autism	22495311	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
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Pancreatic cancer	17952125	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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