Variant report

Variant	nsv826879
Chromosome Location	chr14:21417839-21421254
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:21419103-21419285	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:21419142-21419214	MCF10A-Er-Src	breast:	n/a	n/a
3	SPI1	chr14:21417875-21418311	HL-60	blood:	n/a	n/a
4	SPI1	chr14:21417944-21418274	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:21417758..21420748-chr14:21423705..21426897,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASE2-1	chr14:21419045-21419476	NONHSAT035618
2	lnc-RNASE2-1	chr14:21418698-21418708	NONHSAT035618

No data

Variant related genes	Relation type
RNASE2	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2992514	chr14:21417852-21417853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553481417	chr14:21417871-21417872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140103004	chr14:21417903-21417904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545609235	chr14:21417907-21417908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188087459	chr14:21417927-21417928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575820484	chr14:21417935-21417936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150321484	chr14:21417950-21417951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561460438	chr14:21417968-21417969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180945404	chr14:21417970-21417971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566576097	chr14:21418019-21418020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs80022073	chr14:21418059-21418060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528185853	chr14:21418076-21418077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138060503	chr14:21418143-21418144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187070575	chr14:21418181-21418182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143188058	chr14:21418202-21418203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550834139	chr14:21418223-21418224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567593518	chr14:21418330-21418331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192333864	chr14:21418331-21418332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183240197	chr14:21418340-21418341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573334564	chr14:21418353-21418354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79700395	chr14:21418375-21418376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186960997	chr14:21418376-21418377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544508763	chr14:21418406-21418407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554841998	chr14:21418407-21418408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2783799	chr14:21418427-21418428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542177791	chr14:21418456-21418457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556066770	chr14:21418511-21418512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147097774	chr14:21418546-21418547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538843492	chr14:21418558-21418559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533160462	chr14:21418565-21418566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35476844	chr14:21418580-21418581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111312004	chr14:21418597-21418598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564861648	chr14:21418654-21418655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572507894	chr14:21418747-21418748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542716343	chr14:21418761-21418762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530708230	chr14:21418762-21418763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71410254	chr14:21418789-21418790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71416989	chr14:21418790-21418791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550547339	chr14:21418812-21418813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567556152	chr14:21418817-21418818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530025135	chr14:21418948-21418949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546989019	chr14:21418989-21418990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2319612	chr14:21419010-21419011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113458488	chr14:21419015-21419016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576555502	chr14:21419037-21419038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538692966	chr14:21419044-21419045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558989065	chr14:21419055-21419056	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs569301813	chr14:21419077-21419078	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs538427265	chr14:21419136-21419137	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs190802343	chr14:21419183-21419184	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21364760	CNVD
Mortal	21835882	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21412800-21420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:21417200-21418000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr14:21417800-21418600	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr14:21418000-21418400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:21418200-21418400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:21418400-21420200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:21418600-21420800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:21420000-21423200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr14:21420200-21423200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:21420200-21423600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:21420800-21422400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:21421200-21421600	Enhancers	Fetal Thymus	thymus

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