Variant report

Variant	nsv974311
Chromosome Location	chr14:20994796-20997021
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	chr14:20922450..20924402-chr14:20992995..20995331,2	MCF-7	breast:
2	chr14:20935924..20938914-chr14:20993762..20995397,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100823	chromatin interactions
ENSG00000198805	chromatin interactions
ENSG00000092094	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557688261	chr14:20994797-20994798	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs562694688	chr14:20994805-20994806	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs183507186	chr14:20994818-20994819	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs541791112	chr14:20994855-20994856	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs148596216	chr14:20994864-20994865	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs56294788	chr14:20994872-20994873	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141830649	chr14:20994898-20994899	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs55987734	chr14:20994905-20994906	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs540423621	chr14:20994907-20994908	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs79980662	chr14:20994932-20994933	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs188630120	chr14:20994935-20994936	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs146067945	chr14:20994971-20994972	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548629139	chr14:20995012-20995013	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs140034150	chr14:20995015-20995016	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs59901826	chr14:20995024-20995025	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs534411881	chr14:20995032-20995033	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs181198485	chr14:20995033-20995034	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs570963139	chr14:20995056-20995057	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs60239610	chr14:20995060-20995061	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs58957711	chr14:20995078-20995079	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs60169322	chr14:20995082-20995083	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143657239	chr14:20995086-20995087	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs543246538	chr14:20995101-20995102	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs553795595	chr14:20995133-20995134	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs146817735	chr14:20995152-20995153	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373756624	chr14:20995214-20995215	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs545596691	chr14:20995221-20995222	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs61994230	chr14:20995235-20995236	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187107367	chr14:20995240-20995241	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs543188348	chr14:20995260-20995261	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs560059593	chr14:20995268-20995269	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs191535328	chr14:20995275-20995276	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs74361494	chr14:20995286-20995287	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs60097785	chr14:20995335-20995336	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs59800190	chr14:20995341-20995342	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552903428	chr14:20995361-20995362	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs55795834	chr14:20995374-20995375	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs55917840	chr14:20995389-20995390	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74034308	chr14:20996812-20996813	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2150348	chr14:20996814-20996815	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs544128826	chr14:20996815-20996816	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs576971821	chr14:20996822-20996823	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs541466337	chr14:20996829-20996830	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs150464551	chr14:20996835-20996836	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs529512994	chr14:20996867-20996868	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs547551665	chr14:20996893-20996894	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs138314557	chr14:20996984-20996985	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs17113008	chr14:20996990-20996991	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs551460843	chr14:20996999-20997000	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20996800-20997800	Bivalent Enhancer	HUVEC	blood vessel
2	chr14:20996800-20998000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:20997000-20997200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:20997000-20997400	Enhancers	Monocytes-CD14+_RO01746	blood

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