Variant report

Variant	nsv1050436
Chromosome Location	chr14:82518318-82606347
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1430 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1430 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527738240	chr14:82521410-82521411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549466385	chr14:82521416-82521417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76302478	chr14:82521419-82521420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192589541	chr14:82521446-82521447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs151274870	chr14:82521454-82521455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569159729	chr14:82521457-82521458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539764158	chr14:82521464-82521465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551347028	chr14:82521543-82521544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566469700	chr14:82521545-82521546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117983278	chr14:82521559-82521560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532519967	chr14:82521571-82521572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78402365	chr14:82521585-82521586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573681483	chr14:82521602-82521603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1652638	chr14:82521618-82521619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140572955	chr14:82521622-82521623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556352901	chr14:82521623-82521624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577889994	chr14:82521644-82521645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545299988	chr14:82521664-82521665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560248416	chr14:82521726-82521727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138387280	chr14:82521729-82521730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76323609	chr14:82521738-82521739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80342796	chr14:82521740-82521741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572395599	chr14:82521751-82521752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542705771	chr14:82521758-82521759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561414274	chr14:82521767-82521768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144820780	chr14:82521819-82521820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550762517	chr14:82521824-82521825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs57225512	chr14:82521836-82521837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56900363	chr14:82521881-82521882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs146725043	chr14:82521886-82521887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111734655	chr14:82521889-82521890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578153562	chr14:82521938-82521939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185334577	chr14:82521953-82521954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188765707	chr14:82521963-82521964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567319571	chr14:82521981-82521982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72695502	chr14:82522010-82522011	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186426730	chr14:82522079-82522080	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs375679804	chr14:82522091-82522092	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577826013	chr14:82522121-82522122	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs150372421	chr14:82522149-82522150	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538886441	chr14:82522205-82522206	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73353233	chr14:82522219-82522220	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs138069396	chr14:82522302-82522303	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs576679269	chr14:82522343-82522344	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs554683733	chr14:82522344-82522345	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs576557509	chr14:82522372-82522373	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs543940715	chr14:82522404-82522405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs149463856	chr14:82522406-82522407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533156153	chr14:82522463-82522464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113175193	chr14:82522490-82522491	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82521400-82522200	Enhancers	Colon Smooth Muscle	Colon
2	chr14:82521800-82522200	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:82522000-82522400	Active TSS	Stomach Smooth Muscle	stomach
4	chr14:82522000-82522600	Enhancers	Fetal Brain Male	brain
5	chr14:82522000-82522800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr14:82522200-82522600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr14:82523200-82523400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr14:82526000-82527200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:82526200-82526400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr14:82526200-82526600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:82526200-82527000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:82526200-82527200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:82526200-82527200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:82526400-82526600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr14:82526400-82527000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr14:82526400-82527000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr14:82526400-82527000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:82526400-82527200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:82526400-82527200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:82526600-82526800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr14:82526800-82527000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:82527000-82527400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr14:82527000-82528000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:82527200-82528200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:82528000-82528200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr14:82528200-82528600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:82533600-82534200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:82533600-82534200	Enhancers	Fetal Brain Female	brain
29	chr14:82534000-82534400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:82534200-82546200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:82536800-82537000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:82537000-82546600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:82539000-82539600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr14:82542000-82542200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:82546200-82546400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:82546200-82547000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:82546200-82547200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr14:82546200-82547800	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr14:82546200-82549800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr14:82546200-82550000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr14:82546400-82547200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr14:82546400-82547400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr14:82546400-82548200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:82546600-82547000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:82546600-82547200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:82547000-82547400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr14:82547200-82550000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:82547400-82547600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr14:82547600-82548600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:82547800-82549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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