Variant report

Variant	nsv515769
Chromosome Location	chr14:22033935-22034624
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	chr14:22030267..22032790-chr14:22033659..22035235,2	K562	blood:

Variant related genes	Relation type
ENSG00000256737	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11621688	chr14:22033935-22033936	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552836258	chr14:22033937-22033938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs58537405	chr14:22033946-22033947	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147713981	chr14:22034002-22034003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71419152	chr14:22034018-22034019	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35215517	chr14:22034019-22034020	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs561852100	chr14:22034029-22034030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs397853325	chr14:22034030-22034031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548593669	chr14:22034074-22034075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568699966	chr14:22034116-22034117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs568572276	chr14:22034130-22034131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28613145	chr14:22034137-22034138	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs372864682	chr14:22034138-22034139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181489625	chr14:22034158-22034159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184470619	chr14:22034160-22034161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189181421	chr14:22034161-22034162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111698294	chr14:22034169-22034170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113811612	chr14:22034173-22034174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs59553959	chr14:22034174-22034175	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs544353727	chr14:22034186-22034187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs561027545	chr14:22034233-22034234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12432213	chr14:22034237-22034238	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181256944	chr14:22034258-22034259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186717641	chr14:22034259-22034260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35128213	chr14:22034269-22034270	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs560485699	chr14:22034294-22034295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532680424	chr14:22034301-22034302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552699070	chr14:22034303-22034304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563140677	chr14:22034311-22034312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs386380845	chr14:22034312-22034313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35394384	chr14:22034328-22034329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531823322	chr14:22034387-22034388	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548719478	chr14:22034432-22034433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190613382	chr14:22034461-22034462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573455478	chr14:22034463-22034464	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs2319869	chr14:22034535-22034536	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76804439	chr14:22034542-22034543	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs180902119	chr14:22034584-22034585	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187057423	chr14:22034588-22034589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538386047	chr14:22034608-22034609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558377260	chr14:22034623-22034624	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2319870	chr14:22034624-22034625	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22102821	CNVD
Schizophrenia	23813976	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22018800-22035200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:22026800-22038200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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