Variant report

Variant	nsv456235
Chromosome Location	chr14:43301316-43354861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:42398870..42399833-chr14:43322802..43323708,2	MCF-7	breast:
2	chr14:43302047..43305033-chr14:43305194..43307245,2	MCF-7	breast:
3	chr14:43302047..43305033-chr14:43305194..43307245,2	MCF-7	breast:
4	chr1:37940108..37941690-chr14:43314762..43317378,2	MCF-7	breast:
5	chr14:43301377..43304001-chr14:43306700..43308572,2	MCF-7	breast:
6	chr14:43301377..43304001-chr14:43306700..43308572,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163874	chromatin interactions

Extended variants
information (count: 716 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:716 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537800078	chr14:43308031-43308032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556415332	chr14:43308042-43308043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145460574	chr14:43308059-43308060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55901135	chr14:43308061-43308062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553772669	chr14:43308083-43308084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572184105	chr14:43308110-43308111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545870650	chr14:43308127-43308128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144048908	chr14:43308130-43308131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369069700	chr14:43308131-43308132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576575212	chr14:43308145-43308146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146444728	chr14:43308150-43308151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557891788	chr14:43308178-43308179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77022701	chr14:43308198-43308199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115490477	chr14:43308220-43308221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541044496	chr14:43308246-43308247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55634603	chr14:43308277-43308278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550824599	chr14:43308292-43308293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533255067	chr14:43308317-43308318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551461068	chr14:43308330-43308331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114858691	chr14:43308332-43308333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533789239	chr14:43308389-43308390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552998598	chr14:43314763-43314764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78933748	chr14:43314808-43314809	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs545521970	chr14:43314812-43314813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs115701814	chr14:43314814-43314815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs145383482	chr14:43314851-43314852	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575662951	chr14:43314868-43314869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs543655826	chr14:43314883-43314884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529605446	chr14:43314895-43314896	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561823014	chr14:43314910-43314911	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs9888548	chr14:43314967-43314968	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs142643072	chr14:43314981-43314982	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs9888549	chr14:43315005-43315006	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs2415772	chr14:43315019-43315020	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117320620	chr14:43315041-43315042	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532775597	chr14:43315047-43315048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187983830	chr14:43315053-43315054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs9888550	chr14:43315063-43315064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs569667380	chr14:43315072-43315073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs71411655	chr14:43315095-43315096	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs138391080	chr14:43315170-43315171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562996513	chr14:43315194-43315195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs549169356	chr14:43315260-43315261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567518811	chr14:43315317-43315318	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535028171	chr14:43315345-43315346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs375297214	chr14:43315350-43315351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149237676	chr14:43315364-43315365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538676758	chr14:43315378-43315379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144497699	chr14:43315395-43315396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575815847	chr14:43315397-43315398	Inactive region	Chromatin interactive region	1 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
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
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43308000-43308400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:43308200-43308400	Enhancers	Pancreas	Pancrea
3	chr14:43320200-43322400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:43321600-43322000	Enhancers	Fetal Kidney	kidney
5	chr14:43322400-43324200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:43323200-43323600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:43323200-43324800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:43323200-43324800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:43323600-43324000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:43324000-43324400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:43324000-43325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:43324200-43324600	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:43324200-43324600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr14:43324200-43324800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:43324200-43324800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:43324200-43324800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr14:43324200-43324800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:43324400-43324600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:43324400-43324800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:43324400-43324800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:43324600-43324800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:43329000-43329200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr14:43329200-43330400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr14:43330400-43331600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr14:43331200-43331600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:43331200-43331600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:43331200-43331800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:43337800-43338200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:43341800-43342400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr14:43341800-43342600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:43341800-43342600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:43342000-43342400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:43342000-43342400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr14:43342000-43342400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr14:43342000-43342400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:43342200-43342400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:43342200-43342600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:43349000-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:43349200-43349600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:43349600-43353600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:43352400-43354400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:43352600-43353000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:43352800-43354000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:43352800-43354200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:43353400-43353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:43353400-43354000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr14:43353400-43354200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr14:43353600-43354000	Enhancers	NHEK	skin
49	chr14:43353600-43354200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:43353800-43354200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links