Variant report

Variant	nsv974439
Chromosome Location	chr14:45156500-45186159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
2	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
3	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:

Extended variants
information (count: 191 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:191 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371003352	chr14:45168606-45168607	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141578883	chr14:45168608-45168609	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374421106	chr14:45168649-45168650	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531400297	chr14:45168661-45168662	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367743456	chr14:45168700-45168701	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552367024	chr14:45168711-45168712	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191610781	chr14:45168760-45168761	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547478411	chr14:45168794-45168795	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139378333	chr14:45168819-45168820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536352744	chr14:45168893-45168894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548152862	chr14:45168924-45168925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149583910	chr14:45168940-45168941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147279453	chr14:45168942-45168943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558981814	chr14:45168953-45168954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs813956	chr14:45168979-45168980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183815009	chr14:45168980-45168981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376134279	chr14:45168988-45168989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs807332	chr14:45169070-45169071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574556479	chr14:45169081-45169082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541960576	chr14:45169094-45169095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187349364	chr14:45169155-45169156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555169234	chr14:45169163-45169164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372822117	chr14:45169180-45169181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115376263	chr14:45169185-45169186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545830879	chr14:45169187-45169188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191785289	chr14:45169195-45169196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369472308	chr14:45169254-45169255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs807331	chr14:45169289-45169290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs543168659	chr14:45169307-45169308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561569758	chr14:45169324-45169325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530102607	chr14:45169365-45169366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116423612	chr14:45169381-45169382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182483509	chr14:45169384-45169385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570296059	chr14:45169387-45169388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80281234	chr14:45169393-45169394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs807330	chr14:45169402-45169403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538561073	chr14:45169507-45169508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140838686	chr14:45169570-45169571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568654351	chr14:45169588-45169589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536082479	chr14:45169609-45169610	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553584229	chr14:45169637-45169638	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572147644	chr14:45169660-45169661	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545441583	chr14:45169681-45169682	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147878895	chr14:45169721-45169722	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575906625	chr14:45169768-45169769	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543331728	chr14:45169776-45169777	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117089295	chr14:45169795-45169796	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529034128	chr14:45169809-45169810	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74648982	chr14:45169815-45169816	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148678175	chr14:45169820-45169821	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45168600-45168800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:45168600-45168800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:45168800-45170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:45168800-45171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:45169000-45169400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:45169200-45170000	Enhancers	Fetal Heart	heart
7	chr14:45169600-45170600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:45169800-45170800	Enhancers	NH-A	brain
9	chr14:45170800-45171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:45170800-45171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr14:45171000-45171200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:45180400-45181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:45181000-45181600	Enhancers	Stomach Smooth Muscle	stomach
14	chr14:45181000-45181800	Enhancers	Fetal Kidney	kidney
15	chr14:45181600-45181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:45181600-45181800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr14:45181600-45182000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:45181600-45182000	Enhancers	Fetal Muscle Leg	muscle
19	chr14:45181800-45182000	Enhancers	Stomach Smooth Muscle	stomach
20	chr14:45182000-45182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr14:45185400-45185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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