Variant report

Variant	nsv564723
Chromosome Location	chr14:45188966-45224071
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	chr14:45208006..45210190-chr14:45211813..45213541,2	K562	blood:
3	chr14:45221836..45224746-chr14:45225020..45226572,2	MCF-7	breast:
4	chr14:45209376..45212205-chr14:45226497..45228469,2	MCF-7	breast:
5	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
6	chr14:45218463..45220242-chr14:45226868..45228948,2	MCF-7	breast:
7	chr14:45222019..45223564-chr14:45231846..45233903,2	MCF-7	breast:

Extended variants
information (count: 783 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17115444	chr14:45188966-45188967	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189704399	chr14:45188988-45188989	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562444275	chr14:45189010-45189011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534258324	chr14:45189070-45189071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541227529	chr14:45189123-45189124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367852760	chr14:45189146-45189147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75264439	chr14:45189162-45189163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183479094	chr14:45189168-45189169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187001713	chr14:45189176-45189177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563124965	chr14:45189370-45189371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373695503	chr14:45189379-45189380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530571033	chr14:45189396-45189397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146039736	chr14:45189409-45189410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567571534	chr14:45189439-45189440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534769852	chr14:45189447-45189448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191921463	chr14:45189450-45189451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs566150768	chr14:45189451-45189452	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539525610	chr14:45189468-45189469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs807325	chr14:45189494-45189495	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs807324	chr14:45189507-45189508	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372860245	chr14:45189513-45189514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs77605357	chr14:45189554-45189555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs558052688	chr14:45189591-45189592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs575007037	chr14:45189684-45189685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs17115446	chr14:45189702-45189703	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs61998123	chr14:45189712-45189713	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs574001748	chr14:45189756-45189757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139984250	chr14:45189768-45189769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs559541247	chr14:45189796-45189797	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs577854381	chr14:45189892-45189893	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544771724	chr14:45189894-45189895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs75868273	chr14:45189950-45189951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs183611995	chr14:45189960-45189961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs564157083	chr14:45189968-45189969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs548973472	chr14:45190105-45190106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561134077	chr14:45190106-45190107	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs528417829	chr14:45190108-45190109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs142149147	chr14:45190109-45190110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs188652137	chr14:45190163-45190164	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs150774579	chr14:45190205-45190206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs371721906	chr14:45190208-45190209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551579644	chr14:45190236-45190237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570136604	chr14:45190242-45190243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs17115447	chr14:45190273-45190274	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs369108023	chr14:45190291-45190292	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs139068423	chr14:45190348-45190349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs191805988	chr14:45190354-45190355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs149917335	chr14:45190401-45190402	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534972233	chr14:45190491-45190492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs572984276	chr14:45190503-45190504	ZNF genes & repeats	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45188600-45189000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:45189000-45189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:45189400-45190800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:45190600-45191800	ZNF genes & repeats	Liver	Liver
5	chr14:45198200-45198400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:45199600-45200000	Enhancers	Fetal Intestine Small	intestine
7	chr14:45201200-45201800	Enhancers	Fetal Muscle Leg	muscle
8	chr14:45201600-45202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:45201800-45202000	Enhancers	Fetal Intestine Small	intestine
10	chr14:45202000-45202400	Enhancers	Fetal Lung	lung
11	chr14:45202400-45202800	Weak transcription	Fetal Lung	lung
12	chr14:45202600-45203400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:45202800-45203000	Enhancers	Fetal Lung	lung
14	chr14:45203000-45203800	Weak transcription	Fetal Lung	lung
15	chr14:45203400-45205200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:45203800-45204000	Enhancers	Fetal Lung	lung
17	chr14:45205200-45206200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:45206000-45206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:45206200-45209200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:45206200-45210200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:45208000-45209400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:45209200-45209400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:45209400-45211400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:45210200-45211800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:45210600-45211600	Enhancers	Fetal Lung	lung
26	chr14:45211000-45211600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:45211200-45212000	Enhancers	Fetal Stomach	stomach
28	chr14:45211400-45211600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr14:45211400-45211800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:45211400-45211800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr14:45211600-45212000	Weak transcription	Fetal Lung	lung
32	chr14:45212000-45212600	Enhancers	Fetal Lung	lung
33	chr14:45212000-45214400	Weak transcription	Fetal Stomach	stomach
34	chr14:45213800-45215200	Enhancers	Placenta	Placenta
35	chr14:45214400-45214600	ZNF genes & repeats	Fetal Stomach	stomach
36	chr14:45221600-45221800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:45221600-45221800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr14:45221600-45221800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:45221600-45221800	Active TSS	Fetal Muscle Trunk	muscle
40	chr14:45221600-45221800	Enhancers	HMEC	breast
41	chr14:45222200-45222400	Enhancers	Fetal Intestine Small	intestine
42	chr14:45222400-45225800	Weak transcription	Fetal Intestine Small	intestine
43	chr14:45222800-45223800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr14:45223800-45224000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:45224000-45228200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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