Variant report

Variant	nsv564903
Chromosome Location	chr14:64248549-64266899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64258294..64260685-chr14:64264198..64267177,2	K562	blood:
2	chr14:64253240..64254789-chr14:64255821..64258714,2	MCF-7	breast:
3	chr14:64258294..64260685-chr14:64264198..64267177,2	K562	blood:
4	chr14:64265985..64266560-chr14:64769846..64770485,2	MCF-7	breast:
5	chr14:64265952..64266822-chr14:64460521..64461407,3	MCF-7	breast:
6	chr14:64253240..64254789-chr14:64255821..64258714,2	MCF-7	breast:

Extended variants
information (count: 657 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:657 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8003797	chr14:64248549-64248550	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573482850	chr14:64248583-64248584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542200783	chr14:64248616-64248617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567127436	chr14:64248620-64248621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556011443	chr14:64248651-64248652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575162621	chr14:64248678-64248679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543779677	chr14:64248749-64248750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34300343	chr14:64248794-64248795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200894740	chr14:64248853-64248854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12878224	chr14:64248866-64248867	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61985717	chr14:64248867-64248868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35635100	chr14:64248929-64248930	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560137093	chr14:64248930-64248931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529074718	chr14:64248949-64248950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549041227	chr14:64248974-64248975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533150875	chr14:64248985-64248986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530948236	chr14:64248986-64248987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181360701	chr14:64248989-64248990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570965377	chr14:64249016-64249017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185046855	chr14:64249018-64249019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376642265	chr14:64249101-64249102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553425234	chr14:64249181-64249182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35413633	chr14:64249185-64249186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35627385	chr14:64249204-64249205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71120284	chr14:64249207-64249208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115324912	chr14:64249219-64249220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148115925	chr14:64249222-64249223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555810895	chr14:64249321-64249322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189850902	chr14:64249346-64249347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374472100	chr14:64249356-64249357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557285464	chr14:64249421-64249422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141822431	chr14:64249547-64249548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539993961	chr14:64249584-64249585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560176086	chr14:64249585-64249586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150198120	chr14:64249703-64249704	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113105592	chr14:64249840-64249841	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369835751	chr14:64249867-64249868	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs574551611	chr14:64249938-64249939	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543651003	chr14:64249949-64249950	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs562654137	chr14:64249952-64249953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550340135	chr14:64249960-64249961	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs372803319	chr14:64249964-64249965	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550995073	chr14:64249971-64249972	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564516862	chr14:64249973-64249974	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs533350286	chr14:64250086-64250087	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs572775405	chr14:64250091-64250092	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371421557	chr14:64250124-64250125	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557362645	chr14:64250144-64250145	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs181815929	chr14:64250174-64250175	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187265204	chr14:64250203-64250204	Weak transcription Enhancers Active TSS Flanking Active TSS	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
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
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64231800-64254400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:64237400-64254200	Weak transcription	Placenta	Placenta
3	chr14:64237600-64254000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:64244600-64248600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:64247600-64249200	Enhancers	Hela-S3	cervix
6	chr14:64248400-64250800	Enhancers	HepG2	liver
7	chr14:64248600-64248800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:64248600-64248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:64249600-64250000	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr14:64249800-64250400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr14:64249800-64250800	Enhancers	Fetal Lung	lung
12	chr14:64250000-64250200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr14:64250000-64250400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr14:64250400-64250800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:64254000-64256200	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:64254200-64255400	Genic enhancers	Placenta	Placenta
17	chr14:64254200-64255600	Enhancers	Fetal Muscle Leg	muscle
18	chr14:64254400-64254600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:64254400-64254600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:64254400-64255000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:64254400-64255200	Enhancers	Ovary	ovary
22	chr14:64254400-64256400	Enhancers	Fetal Muscle Trunk	muscle
23	chr14:64254600-64254800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:64254600-64254800	Active TSS	Stomach Smooth Muscle	stomach
25	chr14:64254600-64255000	Enhancers	Psoas Muscle	Psoas
26	chr14:64254600-64255000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
27	chr14:64254600-64255000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr14:64254600-64255400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:64254600-64255600	Enhancers	Fetal Stomach	stomach
30	chr14:64254600-64275200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:64254800-64255000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:64254800-64255000	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr14:64254800-64255000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr14:64254800-64255000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr14:64254800-64255200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:64254800-64255200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:64254800-64255400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:64254800-64255400	Flanking Bivalent TSS/Enh	HepG2	liver
39	chr14:64254800-64255600	Enhancers	Stomach Mucosa	stomach
40	chr14:64255000-64255200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:64255000-64255200	Enhancers	Adipose Nuclei	Adipose
42	chr14:64255000-64255200	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:64255000-64255400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:64255000-64255400	Active TSS	Colon Smooth Muscle	Colon
45	chr14:64255000-64255400	Enhancers	Fetal Brain Male	brain
46	chr14:64255000-64255400	Enhancers	Left Ventricle	heart
47	chr14:64255000-64255400	Enhancers	Lung	lung
48	chr14:64255000-64255400	Flanking Active TSS	Psoas Muscle	Psoas
49	chr14:64255000-64255400	Active TSS	Rectal Smooth Muscle	rectum
50	chr14:64255000-64255400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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