Variant report

Variant	nsv516899
Chromosome Location	chr14:63734499-63753078
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:62645559..62646722-chr14:63742925..63743992,7	MCF-7	breast:
2	chr14:62634966..62635492-chr14:63743637..63744159,2	MCF-7	breast:
3	chr14:63640738..63642463-chr14:63742531..63744543,12	MCF-7	breast:
4	chr14:63749402..63752016-chr14:63753123..63755149,2	K562	blood:
5	chr14:63749402..63752016-chr14:63753123..63755762,3	K562	blood:
6	chr14:62629343..62630368-chr14:63743191..63744136,3	MCF-7	breast:
7	chr14:63641230..63642038-chr14:63743168..63743785,3	MCF-7	breast:
8	chr14:62629450..62630592-chr14:63743010..63744110,4	MCF-7	breast:
9	chr14:63641247..63642022-chr14:63740370..63741339,2	MCF-7	breast:

No data

Extended variants
information (count: 713 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7141282	chr14:63734499-63734500	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34608921	chr14:63734607-63734608	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563546039	chr14:63734618-63734619	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370682018	chr14:63734630-63734631	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532543144	chr14:63734651-63734652	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10162301	chr14:63734652-63734653	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs377076661	chr14:63734679-63734680	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371234358	chr14:63734785-63734786	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559406533	chr14:63734861-63734862	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145448162	chr14:63734873-63734874	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149675373	chr14:63734931-63734932	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs151189702	chr14:63734936-63734937	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548286900	chr14:63734971-63734972	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567591045	chr14:63734972-63734973	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536165429	chr14:63734981-63734982	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188732541	chr14:63734984-63734985	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569884990	chr14:63735004-63735005	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118093528	chr14:63735028-63735029	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146142695	chr14:63735069-63735070	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572022222	chr14:63735091-63735092	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17100938	chr14:63735101-63735102	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554279634	chr14:63735102-63735103	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574331104	chr14:63735161-63735162	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543731101	chr14:63735162-63735163	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532763748	chr14:63735171-63735172	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79383047	chr14:63735261-63735262	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577058344	chr14:63735285-63735286	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78138088	chr14:63735327-63735328	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1955670	chr14:63735357-63735358	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs143758408	chr14:63735358-63735359	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192691063	chr14:63735399-63735400	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561939577	chr14:63735413-63735414	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369357809	chr14:63735416-63735417	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184177807	chr14:63735420-63735421	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569035752	chr14:63735448-63735449	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576212602	chr14:63735468-63735469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187399226	chr14:63735509-63735510	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112752249	chr14:63735534-63735535	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191532484	chr14:63735543-63735544	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541653362	chr14:63735556-63735557	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537107615	chr14:63735589-63735590	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552396837	chr14:63735599-63735600	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565829262	chr14:63735651-63735652	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561569038	chr14:63735677-63735678	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73268349	chr14:63735739-63735740	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554623990	chr14:63735765-63735766	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189989829	chr14:63735766-63735767	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs72712567	chr14:63735784-63735785	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs180833614	chr14:63735800-63735801	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10133216	chr14:63735862-63735863	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:61)

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
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
2	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:63730800-63766000	Weak transcription	Spleen	Spleen
4	chr14:63733000-63735800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:63733200-63740200	Weak transcription	Ovary	ovary
6	chr14:63733600-63734600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:63733600-63734600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:63733600-63734600	Enhancers	Esophagus	oesophagus
9	chr14:63733600-63735800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:63733600-63736000	Enhancers	Fetal Brain Male	brain
11	chr14:63733600-63740200	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:63733800-63742200	Strong transcription	HUVEC	blood vessel
13	chr14:63734000-63734600	Enhancers	Pancreas	Pancrea
14	chr14:63734000-63734800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:63734000-63740200	Weak transcription	Right Ventricle	heart
16	chr14:63734200-63734600	Enhancers	Fetal Muscle Leg	muscle
17	chr14:63734200-63734800	Enhancers	Fetal Heart	heart
18	chr14:63734200-63735200	Enhancers	Fetal Lung	lung
19	chr14:63734200-63735400	Active TSS	Stomach Smooth Muscle	stomach
20	chr14:63734200-63738600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:63734200-63740000	Weak transcription	Left Ventricle	heart
22	chr14:63734200-63740200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:63734200-63742600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:63734400-63734600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr14:63734400-63735400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr14:63734400-63736400	Weak transcription	Fetal Stomach	stomach
27	chr14:63734400-63738600	Weak transcription	NH-A	brain
28	chr14:63734400-63739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:63734400-63740000	Weak transcription	Psoas Muscle	Psoas
30	chr14:63734400-63740200	Weak transcription	Lung	lung
31	chr14:63734400-63749800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:63734600-63734800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr14:63734600-63735400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:63734600-63735600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:63734600-63736400	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:63734600-63740400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:63734800-63735800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:63735000-63735200	Enhancers	Brain Angular Gyrus	brain
39	chr14:63735200-63736000	Weak transcription	Fetal Lung	lung
40	chr14:63735200-63740200	Weak transcription	Brain Angular Gyrus	brain
41	chr14:63735400-63735600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:63735400-63737400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:63735400-63739200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:63735600-63735800	Enhancers	Stomach Smooth Muscle	stomach
45	chr14:63735600-63736000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:63735800-63736000	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr14:63735800-63737400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:63735800-63738400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr14:63735800-63740400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr14:63735800-63741600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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