Variant report

Variant	nsv564666
Chromosome Location	chr14:44630495-44674826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:44659162..44661192-chr14:44662497..44664945,3	MCF-7	breast:
2	chr14:44659162..44661192-chr14:44662497..44664945,3	MCF-7	breast:

Extended variants
information (count: 624 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73335014	chr14:44631421-44631422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554836271	chr14:44631427-44631428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561535790	chr14:44631435-44631436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573408344	chr14:44631440-44631441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540929204	chr14:44631494-44631495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7149136	chr14:44631522-44631523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549096394	chr14:44631547-44631548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543949532	chr14:44631562-44631563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562606131	chr14:44631584-44631585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144846038	chr14:44631656-44631657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147474618	chr14:44631664-44631665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182468277	chr14:44631675-44631676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372933867	chr14:44631735-44631736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79960470	chr14:44631790-44631791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565108635	chr14:44631830-44631831	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532569831	chr14:44631853-44631854	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186796149	chr14:44631931-44631932	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201980198	chr14:44631948-44631949	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199869985	chr14:44631951-44631952	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs71108634	chr14:44631990-44631991	ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs192383039	chr14:44632008-44632009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74456749	chr14:44632032-44632033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536346706	chr14:44632117-44632118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185747950	chr14:44632144-44632145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs970564	chr14:44632146-44632147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs373409915	chr14:44632179-44632180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150021890	chr14:44632180-44632181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1955962	chr14:44632247-44632248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs537880295	chr14:44632264-44632265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139439496	chr14:44632284-44632285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556291736	chr14:44632288-44632289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374050663	chr14:44632289-44632290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574538276	chr14:44632322-44632323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371124749	chr14:44632326-44632327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs970563	chr14:44632332-44632333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145185495	chr14:44632374-44632375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572229570	chr14:44632445-44632446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61488499	chr14:44632492-44632493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149140616	chr14:44632495-44632496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367787404	chr14:44632512-44632513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532394745	chr14:44632535-44632536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536335466	chr14:44632604-44632605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552120484	chr14:44632611-44632612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62010980	chr14:44632624-44632625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199701371	chr14:44632626-44632627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530098610	chr14:44632628-44632629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139065210	chr14:44632631-44632632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201090200	chr14:44632632-44632633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566928585	chr14:44632634-44632635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562146937	chr14:44632645-44632646	Weak transcription	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
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44631400-44631800	Enhancers	HepG2	liver
2	chr14:44631800-44632000	ZNF genes & repeats	Fetal Intestine Small	intestine
3	chr14:44631800-44632000	Flanking Active TSS	HepG2	liver
4	chr14:44632000-44635200	Weak transcription	Fetal Intestine Small	intestine
5	chr14:44633200-44633600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:44633600-44636800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:44634600-44634800	Enhancers	Fetal Lung	lung
8	chr14:44635200-44635600	Enhancers	Fetal Intestine Small	intestine
9	chr14:44635600-44639000	Weak transcription	Fetal Intestine Small	intestine
10	chr14:44636800-44638200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:44639000-44640600	Enhancers	Fetal Intestine Small	intestine
12	chr14:44639400-44640800	Enhancers	Liver	Liver
13	chr14:44639800-44640800	Enhancers	Fetal Intestine Large	intestine
14	chr14:44649800-44650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:44650200-44650600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:44650200-44650800	Enhancers	Fetal Lung	lung
17	chr14:44660600-44661800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:44661200-44661600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr14:44661600-44661800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:44665200-44665800	Enhancers	Fetal Brain Male	brain
21	chr14:44672600-44673200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:44672800-44673600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr14:44673000-44673800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:44673000-44674000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:44673200-44673800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:44673200-44674400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:44673200-44674400	Enhancers	Fetal Heart	heart
28	chr14:44673200-44675800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr14:44673400-44675400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:44673600-44673800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:44673600-44674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:44673600-44674000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:44673600-44674600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr14:44673800-44674200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:44673800-44674400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:44674000-44674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:44674000-44675000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr14:44674200-44674400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:44674400-44674800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:44674400-44675000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr14:44674600-44675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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