Variant report

Variant	esv1798445
Chromosome Location	chr14:32808361-32813639
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:32801679..32804080-chr14:32811528..32814330,2	MCF-7	breast:
2	chr14:32807865..32809719-chr14:32810240..32812970,2	MCF-7	breast:
3	chr14:32802733..32804895-chr14:32807026..32809604,2	K562	blood:
4	chr14:32807865..32809719-chr14:32810240..32812970,2	MCF-7	breast:
5	chr14:32789689..32792160-chr14:32808622..32812879,3	MCF-7	breast:

Extended variants
information (count: 182 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561891518	chr14:32808407-32808408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563739307	chr14:32808409-32808410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532225836	chr14:32808428-32808429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372040788	chr14:32808429-32808430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2891197	chr14:32808435-32808436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529061624	chr14:32808448-32808449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11621646	chr14:32808457-32808458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs377350535	chr14:32808461-32808462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569096911	chr14:32808614-32808615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117771057	chr14:32808633-32808634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149994357	chr14:32808639-32808640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566468761	chr14:32808747-32808748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73254632	chr14:32808785-32808786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181715354	chr14:32808892-32808893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186908528	chr14:32808906-32808907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536013838	chr14:32808920-32808921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557294293	chr14:32808926-32808927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374526020	chr14:32808972-32808973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3784171	chr14:32809041-32809042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189839515	chr14:32809045-32809046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs8012671	chr14:32809051-32809052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs370798561	chr14:32809092-32809093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547877683	chr14:32809277-32809278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374963059	chr14:32809320-32809321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs529381619	chr14:32809430-32809431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368064609	chr14:32809526-32809527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74043726	chr14:32809543-32809544	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs115200076	chr14:32809549-32809550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558742852	chr14:32809571-32809572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111322055	chr14:32809614-32809615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28491706	chr14:32809624-32809625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533755795	chr14:32809650-32809651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535396689	chr14:32809696-32809697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549015352	chr14:32809745-32809746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142436842	chr14:32809790-32809791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73254636	chr14:32809795-32809796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77858282	chr14:32809830-32809831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17098781	chr14:32809838-32809839	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575739442	chr14:32809848-32809849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181297607	chr14:32809898-32809899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11623149	chr14:32809923-32809924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs11623151	chr14:32809945-32809946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs76061804	chr14:32809973-32809974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146471582	chr14:32809987-32809988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75756456	chr14:32809991-32809992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs74609145	chr14:32810017-32810018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572452603	chr14:32810020-32810021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544372041	chr14:32810053-32810054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563047712	chr14:32810062-32810063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184930146	chr14:32810129-32810130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32788800-32811800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:32797200-32831600	Weak transcription	Right Atrium	heart
3	chr14:32799400-32814600	Weak transcription	Left Ventricle	heart
4	chr14:32800200-32813200	Weak transcription	Esophagus	oesophagus
5	chr14:32800800-32811600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:32801000-32811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:32802600-32819000	Weak transcription	Fetal Brain Male	brain
8	chr14:32802800-32810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:32803200-32809200	Enhancers	Brain Substantia Nigra	brain
10	chr14:32803200-32814000	Weak transcription	Fetal Intestine Small	intestine
11	chr14:32803200-32821600	Weak transcription	Fetal Brain Female	brain
12	chr14:32805600-32808600	Weak transcription	Brain Angular Gyrus	brain
13	chr14:32805600-32808600	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:32805800-32810800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr14:32806000-32810200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:32806200-32811400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:32806200-32811800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:32806400-32808600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr14:32806400-32808800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:32806400-32811200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr14:32806400-32811200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:32806400-32811400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:32806400-32811600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr14:32806400-32811800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr14:32806600-32808600	Weak transcription	Brain Germinal Matrix	brain
26	chr14:32807200-32810800	Weak transcription	Brain Anterior Caudate	brain
27	chr14:32807200-32814600	Weak transcription	Aorta	Aorta
28	chr14:32808600-32809000	Enhancers	Brain Angular Gyrus	brain
29	chr14:32808600-32809000	Enhancers	Brain Hippocampus Middle	brain
30	chr14:32808600-32809000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr14:32808600-32809200	Enhancers	Brain Germinal Matrix	brain
32	chr14:32808600-32809400	Enhancers	HSMMtube	muscle
33	chr14:32808800-32809200	Enhancers	Brain Cingulate Gyrus	brain
34	chr14:32808800-32809600	Enhancers	HSMM	muscle
35	chr14:32809000-32810800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:32809000-32811000	Weak transcription	Brain Angular Gyrus	brain
37	chr14:32809000-32811000	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:32809200-32810400	Weak transcription	Brain Substantia Nigra	brain
39	chr14:32809200-32811400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:32809200-32813200	Weak transcription	Brain Germinal Matrix	brain
41	chr14:32809400-32814400	Weak transcription	HSMMtube	muscle
42	chr14:32809600-32815200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:32809800-32815600	Enhancers	NHEK	skin
44	chr14:32810000-32815600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr14:32810200-32811400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:32810400-32812400	Enhancers	Brain Substantia Nigra	brain
47	chr14:32810400-32815200	Enhancers	HMEC	breast
48	chr14:32810600-32812600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr14:32810800-32811400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:32810800-32811800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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