Variant report

Variant	nsv901765
Chromosome Location	chr14:43463396-43537857
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:43508464..43512451-chr14:43512636..43516072,3	MCF-7	breast:
2	chr14:43508464..43512451-chr14:43512636..43516072,3	MCF-7	breast:
3	chr14:43489558..43491070-chr14:43492844..43494877,2	MCF-7	breast:
4	chr1:120473764..120474359-chr14:43517502..43518175,2	HCT-116	colon:
5	chr14:43488671..43489539-chr14:43933950..43934498,2	MCF-7	breast:
6	chr14:43488710..43489609-chr14:44233482..44234148,2	MCF-7	breast:
7	chr14:43482810..43484883-chr14:43487096..43489286,2	MCF-7	breast:
8	chr14:43482810..43484883-chr14:43487096..43489286,2	MCF-7	breast:
9	chr14:43489558..43491070-chr14:43492844..43494877,2	MCF-7	breast:
10	chr14:43461882..43464212-chr3:67277792..67280418,2	MCF-7	breast:
11	chr14:43487775..43490342-chr14:43492170..43494147,2	MCF-7	breast:
12	chr14:43487775..43490342-chr14:43492170..43494147,2	MCF-7	breast:
13	chr14:42693266..42693778-chr14:43474779..43475522,2	MCF-7	breast:
14	chr14:43485354..43487557-chr14:44249590..44251504,2	MCF-7	breast:

No data

Extended variants
information (count: 821 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:821 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1449836	chr14:43463396-43463397	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74569307	chr14:43463403-43463404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148161576	chr14:43463404-43463405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74853211	chr14:43463530-43463531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142814518	chr14:43463531-43463532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144979354	chr14:43463534-43463535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35937014	chr14:43463551-43463552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529269285	chr14:43463556-43463557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376009356	chr14:43463560-43463561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547772035	chr14:43463570-43463571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138791156	chr14:43463591-43463592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79695278	chr14:43463645-43463646	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78271518	chr14:43463652-43463653	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373576678	chr14:43463671-43463672	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78179225	chr14:43463686-43463687	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75397599	chr14:43463714-43463715	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28678483	chr14:43463732-43463733	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541437097	chr14:43463750-43463751	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557968178	chr14:43463755-43463756	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374624980	chr14:43463771-43463772	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571831561	chr14:43463778-43463779	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545473084	chr14:43463807-43463808	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185930015	chr14:43463809-43463810	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531804656	chr14:43463823-43463824	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564168064	chr14:43463824-43463825	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189243706	chr14:43463878-43463879	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34778903	chr14:43463900-43463901	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547834358	chr14:43463943-43463944	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1999282	chr14:43463959-43463960	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533499592	chr14:43463969-43463970	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551894562	chr14:43463972-43463973	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570669516	chr14:43463978-43463979	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537644654	chr14:43464004-43464005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112176069	chr14:43464011-43464012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367946807	chr14:43464096-43464097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568283331	chr14:43464102-43464103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560734086	chr14:43464113-43464114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78002125	chr14:43464115-43464116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs977448	chr14:43464125-43464126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147059960	chr14:43464158-43464159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs376767722	chr14:43464172-43464173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529346115	chr14:43464179-43464180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565587729	chr14:43470813-43470814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs532950221	chr14:43470863-43470864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs367601573	chr14:43470866-43470867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs76161531	chr14:43470908-43470909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs569751382	chr14:43470939-43470940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370344270	chr14:43470942-43470943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs78048328	chr14:43470988-43470989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549631802	chr14:43470995-43470996	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Type 2 diabetes	21526130	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43462200-43463600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr14:43462400-43463600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:43462800-43464200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:43463600-43464000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:43464000-43464200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:43470800-43471400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr14:43472600-43473600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr14:43472800-43474200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
9	chr14:43473200-43474200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:43473400-43473600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr14:43473400-43473600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr14:43473600-43473800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr14:43495400-43495800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:43498200-43498400	Enhancers	A549	lung
15	chr14:43498400-43499200	Weak transcription	A549	lung
16	chr14:43499200-43500400	Enhancers	A549	lung
17	chr14:43500400-43500800	Flanking Active TSS	A549	lung
18	chr14:43500800-43501800	Weak transcription	A549	lung
19	chr14:43501800-43502600	Enhancers	A549	lung
20	chr14:43502600-43503000	Weak transcription	A549	lung
21	chr14:43503000-43505000	Enhancers	A549	lung
22	chr14:43505000-43506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:43505400-43506000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:43506000-43511200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:43506200-43511000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:43511000-43511400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr14:43511000-43512600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr14:43511200-43511400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:43511200-43511400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr14:43511200-43511400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr14:43511400-43511800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:43511400-43511800	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr14:43511400-43512000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr14:43511400-43512000	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr14:43511800-43512400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:43511800-43512400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr14:43512000-43512200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr14:43512000-43512400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr14:43528600-43528800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:43531000-43531400	Enhancers	A549	lung
41	chr14:43531400-43531600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:43531400-43532000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr14:43531400-43532000	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr14:43531400-43532000	Active TSS	A549	lung
45	chr14:43531600-43532000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr14:43531600-43532000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr14:43531600-43532000	Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr14:43531600-43532000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr14:43531600-43532000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr14:43531600-43532000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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