Variant report

Variant	nsv521333
Chromosome Location	chr14:21202215-21203159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr14:21202568-21202883	GM12878	blood:	n/a	chr14:21202721-21202732

Variant related genes	Relation type
ENSG00000258963	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4144568	chr14:21202215-21202216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377240733	chr14:21202250-21202251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35785468	chr14:21202260-21202261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34735019	chr14:21202277-21202278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535142137	chr14:21202308-21202309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559419914	chr14:21202330-21202331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191398703	chr14:21202335-21202336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8012716	chr14:21202336-21202337	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs373706997	chr14:21202350-21202351	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539016066	chr14:21202362-21202363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8010867	chr14:21202369-21202370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs8012895	chr14:21202411-21202412	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs146106786	chr14:21202434-21202435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541659888	chr14:21202452-21202453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374293261	chr14:21202453-21202454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536094171	chr14:21202463-21202464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59822860	chr14:21202481-21202482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs8011190	chr14:21202516-21202517	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs117528598	chr14:21202538-21202539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182776094	chr14:21202564-21202565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188688512	chr14:21202565-21202566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141097190	chr14:21202622-21202623	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs370286191	chr14:21202626-21202627	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563860855	chr14:21202627-21202628	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs17277606	chr14:21202633-21202634	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs79823048	chr14:21202656-21202657	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs116608594	chr14:21202658-21202659	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs372070162	chr14:21202659-21202660	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs554696815	chr14:21202665-21202666	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs150278818	chr14:21202669-21202670	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs571767641	chr14:21202684-21202685	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs145701671	chr14:21202685-21202686	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs74845167	chr14:21202689-21202690	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs569124027	chr14:21202715-21202716	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs536569513	chr14:21202740-21202741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9672000	chr14:21202770-21202771	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs368086694	chr14:21202796-21202797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533733464	chr14:21202817-21202818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs9671404	chr14:21202826-21202827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs192012285	chr14:21202890-21202891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4394987	chr14:21202897-21202898	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs577034702	chr14:21202920-21202921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574302266	chr14:21202921-21202922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543313971	chr14:21202944-21202945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115067166	chr14:21202945-21202946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148920284	chr14:21202949-21202950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372231543	chr14:21202954-21202955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370289381	chr14:21202967-21202968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540810063	chr14:21202974-21202975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143667900	chr14:21202998-21202999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Cancer	20164919	CNVD
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21195400-21209400	Weak transcription	Gastric	stomach
2	chr14:21199000-21203800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:21200600-21204000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:21201400-21203000	Enhancers	Primary B cells from cord blood	blood
5	chr14:21201400-21203200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:21201600-21202800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:21201800-21202600	Weak transcription	Left Ventricle	heart
8	chr14:21201800-21202800	Weak transcription	Right Atrium	heart
9	chr14:21202000-21203000	Weak transcription	Pancreas	Pancrea
10	chr14:21202600-21202800	Enhancers	Colon Smooth Muscle	Colon
11	chr14:21202600-21203000	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:21202600-21203000	Enhancers	Left Ventricle	heart
13	chr14:21202600-21203000	Enhancers	Right Ventricle	heart
14	chr14:21203000-21203200	Enhancers	Pancreas	Pancrea
15	chr14:21203000-21203200	Enhancers	Right Atrium	heart
16	chr14:21203000-21204000	Weak transcription	Right Ventricle	heart

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