Variant report

Variant	esv997182
Chromosome Location	chr14:67180593-67183310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369606051	chr14:67180630-67180631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs144467173	chr14:67180643-67180644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112663186	chr14:67180715-67180716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193271567	chr14:67180733-67180734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543660757	chr14:67180734-67180735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563914377	chr14:67180737-67180738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532560588	chr14:67180738-67180739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552660645	chr14:67180772-67180773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145356518	chr14:67180773-67180774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575794119	chr14:67180801-67180802	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528537645	chr14:67180827-67180828	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185454583	chr14:67180878-67180879	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568421346	chr14:67180954-67180955	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76427914	chr14:67180962-67180963	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556941596	chr14:67180996-67180997	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565173721	chr14:67181033-67181034	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190259490	chr14:67181034-67181035	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61989578	chr14:67181103-67181104	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553067542	chr14:67181111-67181112	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572593439	chr14:67181120-67181121	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373243885	chr14:67181139-67181140	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541469863	chr14:67181156-67181157	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573540258	chr14:67181158-67181159	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574852093	chr14:67181194-67181195	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369171885	chr14:67181204-67181205	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375469197	chr14:67181214-67181215	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181401142	chr14:67181235-67181236	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563798403	chr14:67181281-67181282	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184136780	chr14:67181340-67181341	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546062370	chr14:67181509-67181510	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12147561	chr14:67181537-67181538	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559367201	chr14:67181552-67181553	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376557064	chr14:67181591-67181592	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528601082	chr14:67181605-67181606	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs548664760	chr14:67181606-67181607	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs146809902	chr14:67181618-67181619	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530898532	chr14:67181619-67181620	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188537105	chr14:67181634-67181635	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs570642091	chr14:67181698-67181699	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539658547	chr14:67181709-67181710	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs6573713	chr14:67181733-67181734	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs566282740	chr14:67181765-67181766	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs535184282	chr14:67181812-67181813	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368242900	chr14:67181830-67181831	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563284993	chr14:67181855-67181856	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555007394	chr14:67181870-67181871	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs118131024	chr14:67181901-67181902	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543838033	chr14:67181909-67181910	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557666743	chr14:67181930-67181931	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577467176	chr14:67181981-67181982	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67176600-67184400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr14:67180600-67180800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:67180600-67183200	Enhancers	Dnd41	blood
4	chr14:67180800-67182200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:67180800-67184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:67181200-67181600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:67181200-67181800	Enhancers	Primary T cells from cord blood	blood
8	chr14:67181200-67182000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr14:67181400-67182400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:67181600-67181800	Active TSS	GM12878-XiMat	blood
11	chr14:67181600-67182400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr14:67181800-67182000	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:67181800-67182200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr14:67181800-67182200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr14:67181800-67194600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:67182000-67182200	Enhancers	GM12878-XiMat	blood
17	chr14:67182200-67182400	Flanking Active TSS	GM12878-XiMat	blood
18	chr14:67182200-67183600	Enhancers	Primary T cells from cord blood	blood
19	chr14:67182200-67185000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:67183000-67183200	Enhancers	Right Ventricle	heart
21	chr14:67183000-67183400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:67183000-67183400	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links