Variant report

Variant	nsv456199
Chromosome Location	chr14:32183849-32241873
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	chr14:32195719..32197688-chr14:32198704..32200404,2	MCF-7	breast:
2	chr14:32195719..32197688-chr14:32198704..32200404,2	MCF-7	breast:

Extended variants
information (count: 2240 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2240 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11156699	chr14:32183849-32183850	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371547857	chr14:32183867-32183868	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557235411	chr14:32183908-32183909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561096456	chr14:32183918-32183919	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs138302518	chr14:32183950-32183951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs11624772	chr14:32183970-32183971	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543078752	chr14:32184009-32184010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187743587	chr14:32184010-32184011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557927198	chr14:32184124-32184125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191026954	chr14:32184142-32184143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540205909	chr14:32184150-32184151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11156700	chr14:32184250-32184251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34569742	chr14:32184255-32184256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372726284	chr14:32184355-32184356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149248192	chr14:32184382-32184383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112864038	chr14:32184402-32184403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12897779	chr14:32184417-32184418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs183506576	chr14:32184499-32184500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114789021	chr14:32184540-32184541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375029234	chr14:32184550-32184551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552373520	chr14:32184558-32184559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187462009	chr14:32184626-32184627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367987161	chr14:32184631-32184632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528586543	chr14:32184676-32184677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1031102	chr14:32184680-32184681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs117741454	chr14:32184772-32184773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535730433	chr14:32184808-32184809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61997405	chr14:32184836-32184837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375682037	chr14:32184848-32184849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551307014	chr14:32184876-32184877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569343980	chr14:32184877-32184878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540060252	chr14:32184883-32184884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558404708	chr14:32184939-32184940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192215719	chr14:32184983-32184984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147362201	chr14:32184985-32184986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555353011	chr14:32184996-32184997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35349298	chr14:32185010-32185011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs184049982	chr14:32185013-32185014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368906313	chr14:32185029-32185030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77051021	chr14:32185065-32185066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188274756	chr14:32185106-32185107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559875373	chr14:32185110-32185111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545160551	chr14:32185111-32185112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192161153	chr14:32185145-32185146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548526148	chr14:32185276-32185277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569833371	chr14:32185376-32185377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs8007984	chr14:32185381-32185382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs115664311	chr14:32185397-32185398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561747207	chr14:32185451-32185452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529331146	chr14:32185466-32185467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
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
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32159000-32184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr14:32162000-32186800	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:32165600-32188200	Weak transcription	Right Ventricle	heart
4	chr14:32171000-32186400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:32171000-32200600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:32172000-32186400	Weak transcription	Pancreas	Pancrea
7	chr14:32172000-32188200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:32173400-32186400	Weak transcription	Esophagus	oesophagus
9	chr14:32173400-32189800	Weak transcription	Primary B cells from cord blood	blood
10	chr14:32173400-32218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:32174200-32185600	Weak transcription	HepG2	liver
12	chr14:32174600-32200000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:32175200-32186600	Weak transcription	Primary T cells from cord blood	blood
14	chr14:32175200-32186600	Weak transcription	Adipose Nuclei	Adipose
15	chr14:32175200-32187000	Weak transcription	Aorta	Aorta
16	chr14:32175400-32185200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:32175400-32187000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:32175400-32193400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:32175400-32205600	Weak transcription	Ovary	ovary
20	chr14:32175600-32185200	Weak transcription	Fetal Intestine Small	intestine
21	chr14:32179000-32186200	Weak transcription	Liver	Liver
22	chr14:32181400-32200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:32181800-32185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:32182000-32185200	Weak transcription	Fetal Stomach	stomach
25	chr14:32182000-32186600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:32183800-32184000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:32184000-32186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:32184800-32185000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr14:32185600-32187400	Enhancers	HepG2	liver
30	chr14:32185800-32187200	Enhancers	NHEK	skin
31	chr14:32186200-32187200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:32186200-32188200	Enhancers	Liver	Liver
33	chr14:32186400-32186600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr14:32186400-32186600	Enhancers	Esophagus	oesophagus
35	chr14:32186400-32186800	Enhancers	Fetal Brain Male	brain
36	chr14:32186400-32186800	Enhancers	Pancreas	Pancrea
37	chr14:32186400-32187000	Enhancers	Psoas Muscle	Psoas
38	chr14:32186400-32187200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:32186400-32188400	Enhancers	Rectal Smooth Muscle	rectum
40	chr14:32186400-32188600	Enhancers	Fetal Heart	heart
41	chr14:32186600-32186800	Strong transcription	Primary T cells from cord blood	blood
42	chr14:32186600-32186800	Enhancers	Adipose Nuclei	Adipose
43	chr14:32186600-32187000	Enhancers	Brain Anterior Caudate	brain
44	chr14:32186600-32187600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:32186800-32187200	Enhancers	HMEC	breast
46	chr14:32186800-32187400	Enhancers	Brain Hippocampus Middle	brain
47	chr14:32186800-32205600	Weak transcription	Primary T cells from cord blood	blood
48	chr14:32187000-32187200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:32187000-32187200	Enhancers	Aorta	Aorta
50	chr14:32187000-32188200	Weak transcription	Psoas Muscle	Psoas

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