Variant report

Variant	esv993830
Chromosome Location	chr14:65357515-65363884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
2	chr14:65353028..65355615-chr14:65356230..65358479,2	K562	blood:
3	chr14:65238323..65239708-chr14:65358202..65359292,7	MCF-7	breast:
4	chr14:65356440..65358700-chr14:65379769..65381546,2	MCF-7	breast:
5	chr14:65264347..65266634-chr14:65358841..65360422,2	MCF-7	breast:
6	chr14:65268216..65269184-chr14:65358330..65359038,4	K562	blood:
7	chr14:65289524..65290526-chr14:65358021..65359324,8	K562	blood:
8	chr14:65289223..65290628-chr14:65357779..65359171,7	MCF-7	breast:
9	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
10	chr14:65358336..65361161-chr14:65365213..65366947,2	K562	blood:
11	chr14:65288738..65289433-chr14:65358177..65359166,2	K562	blood:
12	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
13	chr14:65360076..65361766-chr14:65362287..65363875,2	MCF-7	breast:
14	chr14:65238831..65239785-chr14:65358174..65359063,5	MCF-7	breast:
15	chr14:65289311..65290700-chr14:65357720..65359432,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000125954	chromatin interactions
ENSG00000070182	chromatin interactions
ENSG00000258289	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75453917	chr14:65357521-65357522	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372161138	chr14:65357522-65357523	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10498518	chr14:65357542-65357543	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs115372476	chr14:65357583-65357584	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11629410	chr14:65357586-65357587	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530706472	chr14:65357606-65357607	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550782561	chr14:65357616-65357617	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374221681	chr14:65357644-65357645	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs186902338	chr14:65357658-65357659	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs539590240	chr14:65357660-65357661	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs540235457	chr14:65357665-65357666	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12590986	chr14:65357692-65357693	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs538966532	chr14:65357747-65357748	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs116689176	chr14:65357783-65357784	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs554543560	chr14:65357825-65357826	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370874165	chr14:65357863-65357864	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs537329183	chr14:65357880-65357881	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs2104170	chr14:65357916-65357917	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs72726269	chr14:65357929-65357930	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145913772	chr14:65357971-65357972	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs11621527	chr14:65357979-65357980	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs74847925	chr14:65358070-65358071	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs138397538	chr14:65358089-65358090	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs111819257	chr14:65358110-65358111	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs193237239	chr14:65358126-65358127	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs111973215	chr14:65358154-65358155	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369666073	chr14:65358173-65358174	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs78620697	chr14:65358204-65358205	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs117518125	chr14:65358205-65358206	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532989431	chr14:65358213-65358214	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs546345071	chr14:65358217-65358218	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs56818480	chr14:65358233-65358234	Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184056327	chr14:65358288-65358289	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs577183037	chr14:65358297-65358298	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs548211225	chr14:65358307-65358308	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs188654004	chr14:65358322-65358323	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs568342234	chr14:65358360-65358361	Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs537425689	chr14:65358433-65358434	Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs112216067	chr14:65358458-65358459	Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs34320624	chr14:65358474-65358475	Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs116554696	chr14:65358545-65358546	Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs144664356	chr14:65358564-65358565	Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs1957425	chr14:65358576-65358577	Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs192812632	chr14:65358599-65358600	Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs541921667	chr14:65358662-65358663	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs555471669	chr14:65358665-65358666	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs575144442	chr14:65358668-65358669	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs544152665	chr14:65358676-65358677	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs564228609	chr14:65358724-65358725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567182472	chr14:65358738-65358739	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65357400-65358600	Enhancers	K562	blood
2	chr14:65357800-65358400	Enhancers	Liver	Liver
3	chr14:65357800-65358600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:65358000-65358600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:65358200-65359000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr14:65358400-65358600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:65358600-65368000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links