Variant report

Variant	nsv564708
Chromosome Location	chr14:45181337-45208776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
2	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
3	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:
4	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
5	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:

Extended variants
information (count: 547 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:547 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs811722	chr14:45181337-45181338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150303452	chr14:45181370-45181371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568536180	chr14:45181371-45181372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77593495	chr14:45181383-45181384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537568530	chr14:45181388-45181389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540907152	chr14:45181425-45181426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560591977	chr14:45181440-45181441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557310662	chr14:45181507-45181508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188279853	chr14:45181533-45181534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10717936	chr14:45181564-45181565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138310277	chr14:45181595-45181596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564486940	chr14:45181639-45181640	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs192975151	chr14:45181664-45181665	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs114807518	chr14:45181680-45181681	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs75644718	chr14:45181681-45181682	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs529481347	chr14:45181726-45181727	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs144107794	chr14:45181921-45181922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146669777	chr14:45181928-45181929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532887589	chr14:45181996-45181997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184623281	chr14:45182057-45182058	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs569297334	chr14:45182065-45182066	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370622879	chr14:45182073-45182074	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139292927	chr14:45182087-45182088	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs117217388	chr14:45182123-45182124	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs555623970	chr14:45182124-45182125	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs6572276	chr14:45182148-45182149	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs369924158	chr14:45182153-45182154	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546475696	chr14:45182166-45182167	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs553346602	chr14:45182186-45182187	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573210650	chr14:45182193-45182194	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs183796063	chr14:45185407-45185408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532038580	chr14:45185436-45185437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369784266	chr14:45185539-45185540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142489559	chr14:45185540-45185541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73337392	chr14:45185557-45185558	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs559896274	chr14:45185563-45185564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1345979	chr14:45187408-45187409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552934221	chr14:45187416-45187417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371177315	chr14:45187454-45187455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571012088	chr14:45187480-45187481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538098550	chr14:45187523-45187524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549846506	chr14:45187548-45187549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568066808	chr14:45187558-45187559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190252960	chr14:45187598-45187599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553366652	chr14:45187727-45187728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143101920	chr14:45187744-45187745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113862038	chr14:45187766-45187767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565610789	chr14:45187838-45187839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575539685	chr14:45187847-45187848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374870416	chr14:45187851-45187852	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45181000-45181600	Enhancers	Stomach Smooth Muscle	stomach
2	chr14:45181000-45181800	Enhancers	Fetal Kidney	kidney
3	chr14:45181600-45181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:45181600-45181800	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr14:45181600-45182000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:45181600-45182000	Enhancers	Fetal Muscle Leg	muscle
7	chr14:45181800-45182000	Enhancers	Stomach Smooth Muscle	stomach
8	chr14:45182000-45182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr14:45185400-45185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:45187400-45188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:45187600-45187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:45188000-45188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:45188400-45188600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:45188600-45189000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:45189000-45189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:45189400-45190800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:45190600-45191800	ZNF genes & repeats	Liver	Liver
18	chr14:45198200-45198400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:45199600-45200000	Enhancers	Fetal Intestine Small	intestine
20	chr14:45201200-45201800	Enhancers	Fetal Muscle Leg	muscle
21	chr14:45201600-45202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr14:45201800-45202000	Enhancers	Fetal Intestine Small	intestine
23	chr14:45202000-45202400	Enhancers	Fetal Lung	lung
24	chr14:45202400-45202800	Weak transcription	Fetal Lung	lung
25	chr14:45202600-45203400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:45202800-45203000	Enhancers	Fetal Lung	lung
27	chr14:45203000-45203800	Weak transcription	Fetal Lung	lung
28	chr14:45203400-45205200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:45203800-45204000	Enhancers	Fetal Lung	lung
30	chr14:45205200-45206200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:45206000-45206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:45206200-45209200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:45206200-45210200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:45208000-45209400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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