Variant report

Variant	nsv1043280
Chromosome Location	chr14:40416845-40590110
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:40501516..40503145-chr14:40505667..40507473,2	MCF-7	breast:
2	chr14:40570496..40572299-chr14:40575193..40577238,2	MCF-7	breast:
3	chr14:40570496..40572299-chr14:40575193..40577238,2	MCF-7	breast:
4	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:
5	chr14:40457857..40458829-chr14:40749466..40750494,4	MCF-7	breast:
6	chr14:40501516..40503145-chr14:40505667..40507473,2	MCF-7	breast:
7	chr14:40496039..40499019-chr14:40499728..40502198,2	MCF-7	breast:
8	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:
9	chr14:40534564..40535391-chr2:55398502..55399026,2	MCF-7	breast:
10	chr14:40524963..40526539-chr14:40536036..40538411,2	MCF-7	breast:

No data

Extended variants
information (count: 2131 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2131 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562720386	chr14:40418233-40418234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557650204	chr14:40418244-40418245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531426935	chr14:40418248-40418249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544788524	chr14:40418352-40418353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575493064	chr14:40418477-40418478	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564854018	chr14:40418478-40418479	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144699602	chr14:40418482-40418483	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148529821	chr14:40418509-40418510	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs566805388	chr14:40418557-40418558	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs1157667	chr14:40418569-40418570	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs72683170	chr14:40418581-40418582	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs1157666	chr14:40418605-40418606	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538296813	chr14:40418632-40418633	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542422843	chr14:40418633-40418634	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571588356	chr14:40418701-40418702	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs4134257	chr14:40418712-40418713	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554236397	chr14:40418713-40418714	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs573981569	chr14:40418727-40418728	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542986341	chr14:40418736-40418737	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556355394	chr14:40418774-40418775	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs61144770	chr14:40427219-40427220	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376835385	chr14:40427278-40427279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10150979	chr14:40427320-40427321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570353761	chr14:40427324-40427325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34475399	chr14:40427345-40427346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs180952489	chr14:40427376-40427377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117937196	chr14:40427414-40427415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540749714	chr14:40427422-40427423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185773433	chr14:40427469-40427470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10151173	chr14:40427470-40427471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554914690	chr14:40427475-40427476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10139130	chr14:40427486-40427487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190336624	chr14:40427508-40427509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563655208	chr14:40427526-40427527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576849572	chr14:40427546-40427547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181143952	chr14:40427560-40427561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559207550	chr14:40427573-40427574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550678710	chr14:40434420-40434421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201585461	chr14:40434434-40434435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35815804	chr14:40434475-40434476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374094960	chr14:40434478-40434479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188684677	chr14:40434529-40434530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10220364	chr14:40434531-40434532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553370105	chr14:40434565-40434566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566298630	chr14:40434596-40434597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181173693	chr14:40434598-40434599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187022420	chr14:40434599-40434600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555242006	chr14:40434616-40434617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs36036894	chr14:40434621-40434622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575524451	chr14:40434622-40434623	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Schizophrenia	23813976	CNVD
Intracranial tumor	22048656	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40418200-40418400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:40418400-40418800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:40427200-40427600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:40434400-40435200	Enhancers	HepG2	liver
5	chr14:40441600-40442000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:40441600-40442200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:40441800-40442200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:40442200-40442400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:40442400-40443000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:40442400-40443400	Enhancers	Fetal Kidney	kidney
11	chr14:40443000-40443800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:40447400-40447800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:40453400-40453800	Enhancers	Fetal Muscle Leg	muscle
14	chr14:40459600-40460600	Enhancers	Fetal Kidney	kidney
15	chr14:40460600-40460800	Weak transcription	Fetal Kidney	kidney
16	chr14:40460800-40461000	Enhancers	Fetal Kidney	kidney
17	chr14:40463400-40466800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:40464800-40467800	Weak transcription	Pancreas	Pancrea
19	chr14:40465000-40466000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:40466800-40470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr14:40470600-40470800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:40470800-40471200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:40471200-40471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:40471800-40478400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:40473400-40474600	Enhancers	Fetal Kidney	kidney
26	chr14:40478400-40479600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:40479600-40480800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:40480800-40481600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:40481600-40482800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:40488200-40489600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:40488400-40489600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr14:40489400-40489600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:40489600-40489800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:40489600-40495200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:40489800-40490600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:40490600-40491400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:40494000-40494200	Enhancers	Fetal Intestine Small	intestine
38	chr14:40494000-40495400	Enhancers	Fetal Intestine Large	intestine
39	chr14:40494800-40495000	Enhancers	Fetal Intestine Small	intestine
40	chr14:40495200-40496000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:40495400-40496600	Weak transcription	Fetal Intestine Large	intestine
42	chr14:40498200-40498600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:40498200-40498600	Enhancers	Colon Smooth Muscle	Colon
44	chr14:40499800-40501200	Weak transcription	Fetal Intestine Large	intestine
45	chr14:40501200-40504800	Enhancers	Fetal Intestine Large	intestine
46	chr14:40501400-40501600	Weak transcription	Fetal Intestine Small	intestine
47	chr14:40501600-40501800	Enhancers	Fetal Intestine Small	intestine
48	chr14:40501800-40502400	Weak transcription	Fetal Intestine Small	intestine
49	chr14:40502400-40502600	Enhancers	Fetal Intestine Small	intestine
50	chr14:40502600-40503600	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links