Variant report

Variant	nsv901503
Chromosome Location	chr14:25133186-25172456
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:25145702..25148414-chr14:25151278..25153378,2	MCF-7	breast:
2	chr14:25098847..25101531-chr14:25147119..25149675,2	MCF-7	breast:
3	chr14:24950446..24951536-chr14:25147799..25148973,31	MCF-7	breast:
4	chr14:25145702..25148414-chr14:25151278..25153378,2	MCF-7	breast:
5	chr14:25160085..25162899-chr14:25176597..25178827,2	K562	blood:
6	chr14:25159291..25161247-chr14:25162465..25165191,2	K562	blood:
7	chr14:25159291..25161247-chr14:25162465..25165191,2	K562	blood:
8	chr14:25074327..25075453-chr14:25147858..25148813,10	MCF-7	breast:
9	chr14:25140264..25140953-chr2:153574247..153575204,2	MCF-7	breast:
10	chr14:24905848..24906564-chr14:25147935..25148721,2	MCF-7	breast:
11	chr14:25074565..25075282-chr14:25147884..25148791,4	K562	blood:
12	chr14:25148275..25148836-chr14:25875689..25876564,2	MCF-7	breast:
13	chr14:24950901..24951428-chr14:25147948..25148704,2	K562	blood:
14	chr14:24950478..24951496-chr14:25147845..25148826,8	MCF-7	breast:
15	chr14:25073839..25075708-chr14:25147848..25148766,18	MCF-7	breast:
16	chr14:25147349..25148317-chr15:49914642..49915614,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000177917	chromatin interactions
ENSG00000196504	chromatin interactions

Extended variants
information (count: 1421 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1421 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs969453	chr14:25133186-25133187	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373848405	chr14:25133263-25133264	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140109646	chr14:25133309-25133310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576578536	chr14:25133356-25133357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561852270	chr14:25133416-25133417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552412424	chr14:25133419-25133420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386775723	chr14:25133539-25133540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200138409	chr14:25133542-25133543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78333020	chr14:25133544-25133545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376709409	chr14:25133545-25133546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547603946	chr14:25133546-25133547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377054558	chr14:25133550-25133551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61976762	chr14:25133552-25133553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138200374	chr14:25133554-25133555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79469328	chr14:25133555-25133556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372900475	chr14:25133557-25133558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs61976763	chr14:25133560-25133561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61976764	chr14:25133561-25133562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371801152	chr14:25133563-25133564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374788478	chr14:25133564-25133565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533712590	chr14:25133565-25133566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143803348	chr14:25133610-25133611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569680022	chr14:25133611-25133612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375057053	chr14:25133612-25133613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570891275	chr14:25133629-25133630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189698795	chr14:25133637-25133638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532210466	chr14:25133712-25133713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56347548	chr14:25133722-25133723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565686623	chr14:25133739-25133740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536134140	chr14:25133744-25133745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554811886	chr14:25133746-25133747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557968786	chr14:25133810-25133811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569758485	chr14:25133837-25133838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73600946	chr14:25133877-25133878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115877664	chr14:25133919-25133920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146808626	chr14:25133960-25133961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541834665	chr14:25133962-25133963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141700738	chr14:25134066-25134067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561716736	chr14:25134093-25134094	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114393430	chr14:25134094-25134095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541110023	chr14:25134138-25134139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112180580	chr14:25134173-25134174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140508151	chr14:25134179-25134180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150435923	chr14:25134200-25134201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569550418	chr14:25134219-25134220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550302414	chr14:25134234-25134235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563842589	chr14:25134260-25134261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188887916	chr14:25134269-25134270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549027777	chr14:25134272-25134273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565665248	chr14:25134278-25134279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25129000-25134800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr14:25129000-25135200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:25129000-25135400	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:25129800-25133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:25129800-25134400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr14:25130400-25135400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:25130600-25133400	Enhancers	Fetal Thymus	thymus
8	chr14:25130800-25133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:25131000-25133200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:25131200-25133200	Weak transcription	HMEC	breast
11	chr14:25131200-25133200	Weak transcription	NHEK	skin
12	chr14:25131400-25135400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:25131600-25134400	Enhancers	GM12878-XiMat	blood
14	chr14:25131600-25135600	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:25132200-25134200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr14:25132200-25134800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:25132400-25134200	Weak transcription	Primary B cells from cord blood	blood
18	chr14:25132400-25134200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:25132400-25134400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:25132400-25135200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr14:25132600-25134200	Weak transcription	Primary T cells from cord blood	blood
22	chr14:25132600-25134600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:25132800-25134000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr14:25132800-25134400	Weak transcription	Thymus	Thymus
25	chr14:25132800-25134600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:25133000-25133200	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr14:25133200-25134600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:25133200-25134600	Enhancers	NHEK	skin
29	chr14:25133200-25135400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:25133200-25135400	Enhancers	HMEC	breast
31	chr14:25133400-25133600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:25133400-25133800	Weak transcription	Fetal Thymus	thymus
33	chr14:25133600-25134000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:25133600-25135400	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr14:25133800-25135200	Enhancers	Fetal Thymus	thymus
36	chr14:25134000-25134600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr14:25134000-25135200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:25134000-25135400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:25134200-25134600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:25134200-25134600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr14:25134200-25134800	Enhancers	Primary B cells from cord blood	blood
42	chr14:25134200-25135200	Enhancers	Primary T cells from cord blood	blood
43	chr14:25134200-25135200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr14:25134200-25135200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr14:25134200-25135400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:25134200-25135400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:25134200-25135400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:25134400-25134600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr14:25134400-25134800	Enhancers	Right Atrium	heart
50	chr14:25134400-25135200	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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