Variant report

Variant	nsv564569
Chromosome Location	chr14:42907447-42971842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:
2	chr14:42933286..42933984-chr3:29810719..29811455,2	MCF-7	breast:
3	chr14:42933700..42935505-chr14:42937514..42939043,2	MCF-7	breast:
4	chr14:42955061..42956041-chr18:32446617..32447280,2	MCF-7	breast:

Extended variants
information (count: 946 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8017539	chr14:42919811-42919812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555635901	chr14:42919841-42919842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8018875	chr14:42919855-42919856	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147476497	chr14:42919889-42919890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553665808	chr14:42919922-42919923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578055706	chr14:42919932-42919933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11845852	chr14:42919967-42919968	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138847813	chr14:42920019-42920020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141237216	chr14:42920060-42920061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543153076	chr14:42920067-42920068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561723843	chr14:42920098-42920099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529120561	chr14:42920099-42920100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114357813	chr14:42920133-42920134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573212226	chr14:42920138-42920139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190862042	chr14:42920140-42920141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183281368	chr14:42920143-42920144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs8013437	chr14:42920147-42920148	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs563802022	chr14:42920190-42920191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150799038	chr14:42920198-42920199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533734392	chr14:42929264-42929265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113041520	chr14:42929281-42929282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558532688	chr14:42929295-42929296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576815342	chr14:42929304-42929305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544342525	chr14:42929305-42929306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184466430	chr14:42929326-42929327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376693900	chr14:42929344-42929345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542096419	chr14:42929347-42929348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1027537	chr14:42929411-42929412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs527996063	chr14:42929445-42929446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1566395	chr14:42929451-42929452	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138756038	chr14:42929465-42929466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1566394	chr14:42929473-42929474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550281200	chr14:42929498-42929499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190624397	chr14:42929501-42929502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368547521	chr14:42929502-42929503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566732193	chr14:42929506-42929507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534081962	chr14:42929515-42929516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182291902	chr14:42929525-42929526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570468692	chr14:42929551-42929552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74795001	chr14:42929560-42929561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186810197	chr14:42929564-42929565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570495738	chr14:42929590-42929591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs141571049	chr14:42929684-42929685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146177674	chr14:42929731-42929732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553957724	chr14:42929738-42929739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374918264	chr14:42929740-42929741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56051232	chr14:42929761-42929762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546524736	chr14:42929788-42929789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564306324	chr14:42929821-42929822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4592562	chr14:42929827-42929828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42919800-42920200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr14:42929200-42929400	Enhancers	Esophagus	oesophagus
3	chr14:42929400-42933400	Weak transcription	Esophagus	oesophagus
4	chr14:42933400-42933600	ZNF genes & repeats	Esophagus	oesophagus
5	chr14:42938400-42938800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:42938600-42939400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:42938800-42939200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:42938800-42939600	Active TSS	A549	lung
9	chr14:42939000-42939400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:42939200-42939600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:42942000-42942200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:42942000-42942200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr14:42942200-42943200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:42942200-42943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:42943000-42951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:42943200-42944600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:42943200-42946400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr14:42943400-42943800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:42943600-42944400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr14:42943600-42944600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:42943600-42946400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:42943800-42944400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:42943800-42944400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr14:42943800-42944600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:42943800-42944600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:42943800-42946000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:42944200-42948400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:42944400-42944600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr14:42944400-42944800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr14:42944600-42944800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:42944600-42944800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr14:42944600-42945800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:42944800-42946200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:42944800-42948400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:42945800-42946000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:42946000-42946200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:42946000-42948400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:42946200-42948400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:42946400-42948400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:42948400-42948600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:42948400-42948600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr14:42948400-42948800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:42948400-42949800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:42948600-42948800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr14:42948600-42958200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:42948800-42949600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr14:42949600-42949800	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:42951600-42952200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr14:42952200-42952600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:42957600-42958400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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