Variant report

Variant	nsv977454
Chromosome Location	chr14:35389896-35390761
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	SPI1	chr14:35389906-35390451	HL-60	blood:	n/a	n/a
2	SPI1	chr14:35390048-35390331	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35343366..35345021-chr14:35390010..35392504,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258493	TF binding region
ENSG00000198604	chromatin interactions
ENSG00000258738	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80127405	chr14:35389930-35389931	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567949527	chr14:35389953-35389954	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537080261	chr14:35390005-35390006	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2295469	chr14:35390023-35390024	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs3830919	chr14:35390044-35390045	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs397840568	chr14:35390046-35390047	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs35599851	chr14:35390062-35390063	Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs187590906	chr14:35390077-35390078	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs368848205	chr14:35390099-35390100	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs799661	chr14:35390146-35390147	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs543749777	chr14:35390160-35390161	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553157087	chr14:35390165-35390166	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs573040631	chr14:35390171-35390172	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76985208	chr14:35390199-35390200	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs535081413	chr14:35390210-35390211	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs192270850	chr14:35390229-35390230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs12323344	chr14:35390293-35390294	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs113610910	chr14:35390295-35390296	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs77795256	chr14:35390296-35390297	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs398077685	chr14:35390308-35390309	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs58748020	chr14:35390309-35390310	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201434530	chr14:35390310-35390311	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs544566369	chr14:35390376-35390377	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs36021573	chr14:35390410-35390411	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs564153423	chr14:35390477-35390478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577872940	chr14:35390520-35390521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs540526081	chr14:35390540-35390541	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs547637029	chr14:35390571-35390572	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529528215	chr14:35390579-35390580	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs71421919	chr14:35390585-35390586	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs11848715	chr14:35390608-35390609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs561797723	chr14:35390623-35390624	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs116891656	chr14:35390662-35390663	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550555710	chr14:35390698-35390699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs536218883	chr14:35390730-35390731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35381000-35398600	Weak transcription	Primary T cells from cord blood	blood
2	chr14:35381400-35412200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:35384600-35398200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:35384800-35398600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:35387400-35397000	Weak transcription	Fetal Intestine Small	intestine
6	chr14:35388200-35390000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:35388200-35390000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:35389400-35390000	Strong transcription	Ovary	ovary
9	chr14:35389400-35390200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:35389600-35390200	Enhancers	A549	lung
11	chr14:35389600-35390200	Enhancers	NH-A	brain
12	chr14:35389600-35411400	Weak transcription	Aorta	Aorta
13	chr14:35389800-35390200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:35390000-35390600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:35390000-35391000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr14:35390000-35412600	Weak transcription	Ovary	ovary
17	chr14:35390200-35395400	Weak transcription	NH-A	brain
18	chr14:35390200-35395600	Weak transcription	A549	lung
19	chr14:35390200-35400600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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