Variant report

Variant	nsv901790
Chromosome Location	chr14:44140562-44214944
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44205547..44207356-chr14:44208208..44210904,2	MCF-7	breast:
2	chr14:44175429..44177063-chr14:44180133..44181778,2	MCF-7	breast:
3	chr14:44205547..44207356-chr14:44208208..44210904,2	MCF-7	breast:
4	chr14:44175429..44177063-chr14:44180133..44181778,2	MCF-7	breast:
5	chr14:44186082..44188263-chr14:44190147..44191676,2	MCF-7	breast:
6	chr14:44205144..44205757-chr14:44233413..44234104,2	MCF-7	breast:
7	chr14:44178956..44181575-chr14:44181768..44183737,3	K562	blood:
8	chr14:44196286..44198757-chr14:44200759..44202310,2	MCF-7	breast:
9	chr14:44193372..44194920-chr14:44199439..44201142,2	MCF-7	breast:
10	chr14:44178956..44181575-chr14:44181768..44183737,3	K562	blood:
11	chr14:44159765..44161650-chr14:44161663..44164546,2	MCF-7	breast:
12	chr14:44186082..44188263-chr14:44190147..44191676,2	MCF-7	breast:
13	chr14:44118326..44120848-chr14:44211222..44213029,2	MCF-7	breast:
14	chr14:44158977..44160945-chr14:44164562..44166990,2	MCF-7	breast:
15	chr14:44118728..44122212-chr14:44202412..44204725,3	MCF-7	breast:
16	chr14:44187135..44188917-chr14:44198793..44201549,2	MCF-7	breast:
17	chr14:44196286..44198757-chr14:44200759..44202310,2	MCF-7	breast:
18	chr14:44187135..44188917-chr14:44198793..44201549,2	MCF-7	breast:
19	chr14:44158977..44160945-chr14:44164562..44166990,2	MCF-7	breast:
20	chr14:44159765..44161650-chr14:44161663..44164546,2	MCF-7	breast:
21	chr14:44193372..44194920-chr14:44199439..44201142,2	MCF-7	breast:

No data

Extended variants
information (count: 979 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:979 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112963689	chr14:44140802-44140803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191420193	chr14:44140822-44140823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112239696	chr14:44140830-44140831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557542499	chr14:44140863-44140864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575830179	chr14:44140886-44140887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183944973	chr14:44140898-44140899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543073240	chr14:44140911-44140912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114060830	chr14:44140921-44140922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550322735	chr14:44140935-44140936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11849025	chr14:44140975-44140976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541013407	chr14:44140979-44140980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138993489	chr14:44141013-44141014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551055621	chr14:44141041-44141042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551161897	chr14:44141056-44141057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202124475	chr14:44141061-44141062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1957272	chr14:44141145-44141146	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143990536	chr14:44141185-44141186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375332866	chr14:44141199-44141200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs79428864	chr14:44141234-44141235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141416942	chr14:44141237-44141238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78604187	chr14:44141243-44141244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539312789	chr14:44141260-44141261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557605534	chr14:44141265-44141266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186822430	chr14:44141277-44141278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536373687	chr14:44141361-44141362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192353597	chr14:44141372-44141373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185639867	chr14:44141385-44141386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145181195	chr14:44141394-44141395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564886389	chr14:44141398-44141399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190103391	chr14:44141415-44141416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28374968	chr14:44141451-44141452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181852778	chr14:44141453-44141454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567522113	chr14:44141464-44141465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530733502	chr14:44141491-44141492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112636334	chr14:44141535-44141536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571721334	chr14:44141580-44141581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs77298958	chr14:44141630-44141631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56145337	chr14:44141634-44141635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188722766	chr14:44141661-44141662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113422872	chr14:44141687-44141688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374936323	chr14:44141689-44141690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11626299	chr14:44141729-44141730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180803039	chr14:44141759-44141760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551273230	chr14:44141766-44141767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184901160	chr14:44141825-44141826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370350043	chr14:44141844-44141845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373903629	chr14:44141877-44141878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536843293	chr14:44141914-44141915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554822650	chr14:44141921-44141922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs118166138	chr14:44141946-44141947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44140800-44142400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr14:44140800-44142600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr14:44141000-44141200	Enhancers	Primary hematopoietic stem cells	blood
4	chr14:44141400-44142200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:44142200-44142400	Enhancers	Primary hematopoietic stem cells	blood
6	chr14:44142400-44143000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr14:44143200-44143400	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:44156400-44157800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:44156400-44157800	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:44156600-44157000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:44156600-44157200	Enhancers	Colon Smooth Muscle	Colon
12	chr14:44156600-44157200	Enhancers	Rectal Smooth Muscle	rectum
13	chr14:44156600-44157800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:44156600-44157800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:44156600-44160800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:44156800-44157400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:44156800-44157600	Enhancers	Hela-S3	cervix
18	chr14:44156800-44157800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:44157000-44157200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:44157000-44157400	Enhancers	HepG2	liver
21	chr14:44157000-44157600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:44157000-44157600	Active TSS	Right Atrium	heart
23	chr14:44157200-44157400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:44157200-44157600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:44157400-44157600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:44157600-44158000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:44157600-44158000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:44157600-44158000	Enhancers	Rectal Smooth Muscle	rectum
29	chr14:44160800-44161000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:44161000-44161400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:44161400-44161800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:44167400-44167800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:44167400-44168400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr14:44167600-44168400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr14:44167800-44168400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr14:44176000-44176200	Enhancers	A549	lung
37	chr14:44176000-44176400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:44176000-44176600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:44176000-44176800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:44176200-44176600	Flanking Active TSS	A549	lung
41	chr14:44197400-44208400	Weak transcription	Pancreas	Pancrea
42	chr14:44198000-44199200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr14:44198000-44199400	Enhancers	Primary hematopoietic stem cells	blood
44	chr14:44198200-44198600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr14:44198200-44199000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:44198200-44199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:44198200-44199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:44204600-44205200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:44204800-44206000	Enhancers	Hela-S3	cervix
50	chr14:44205200-44205600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links