Variant report

Variant	esv2752941
Chromosome Location	chr14:45169402-45207565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:
2	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
3	chr14:45187400..45188097-chr9:112195718..112196275,2	MCF-7	breast:
4	chr14:45184929..45186647-chr14:45186741..45189254,2	MCF-7	breast:
5	chr11:42828883..42829388-chr14:45185825..45186326,2	MCF-7	breast:

Extended variants
information (count: 609 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:609 , 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	rs807330	chr14:45169402-45169403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538561073	chr14:45169507-45169508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140838686	chr14:45169570-45169571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568654351	chr14:45169588-45169589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536082479	chr14:45169609-45169610	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553584229	chr14:45169637-45169638	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572147644	chr14:45169660-45169661	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545441583	chr14:45169681-45169682	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147878895	chr14:45169721-45169722	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575906625	chr14:45169768-45169769	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543331728	chr14:45169776-45169777	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117089295	chr14:45169795-45169796	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529034128	chr14:45169809-45169810	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74648982	chr14:45169815-45169816	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148678175	chr14:45169820-45169821	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533739795	chr14:45169824-45169825	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527785894	chr14:45169835-45169836	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35013220	chr14:45169841-45169842	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551013507	chr14:45169849-45169850	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76119144	chr14:45169905-45169906	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531772646	chr14:45169914-45169915	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553366252	chr14:45169931-45169932	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546051965	chr14:45169988-45169989	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142245065	chr14:45169989-45169990	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568819417	chr14:45169990-45169991	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117405700	chr14:45170018-45170019	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542543050	chr14:45170038-45170039	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554354171	chr14:45170130-45170131	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565593080	chr14:45170170-45170171	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374180547	chr14:45170220-45170221	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151191600	chr14:45170256-45170257	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs17115417	chr14:45170300-45170301	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576230552	chr14:45170313-45170314	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372156210	chr14:45170324-45170325	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540685973	chr14:45170332-45170333	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545169848	chr14:45170364-45170365	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559082912	chr14:45170365-45170366	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565334246	chr14:45170378-45170379	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575619270	chr14:45170392-45170393	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186715860	chr14:45170422-45170423	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191177064	chr14:45170457-45170458	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185574285	chr14:45170462-45170463	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190478276	chr14:45170484-45170485	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs375874809	chr14:45170493-45170494	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60089047	chr14:45170548-45170549	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140327571	chr14:45170587-45170588	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370689113	chr14:45170609-45170610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193084326	chr14:45170645-45170646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185475675	chr14:45170658-45170659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs807329	chr14:45170661-45170662	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45168800-45170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:45168800-45171000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:45169200-45170000	Enhancers	Fetal Heart	heart
4	chr14:45169600-45170600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:45169800-45170800	Enhancers	NH-A	brain
6	chr14:45170800-45171200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:45170800-45171400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:45171000-45171200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:45180400-45181200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:45181000-45181600	Enhancers	Stomach Smooth Muscle	stomach
11	chr14:45181000-45181800	Enhancers	Fetal Kidney	kidney
12	chr14:45181600-45181800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:45181600-45181800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr14:45181600-45182000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:45181600-45182000	Enhancers	Fetal Muscle Leg	muscle
16	chr14:45181800-45182000	Enhancers	Stomach Smooth Muscle	stomach
17	chr14:45182000-45182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr14:45185400-45185600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:45187400-45188000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:45187600-45187800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:45188000-45188600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:45188400-45188600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:45188600-45189000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:45189000-45189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:45189400-45190800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:45190600-45191800	ZNF genes & repeats	Liver	Liver
27	chr14:45198200-45198400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:45199600-45200000	Enhancers	Fetal Intestine Small	intestine
29	chr14:45201200-45201800	Enhancers	Fetal Muscle Leg	muscle
30	chr14:45201600-45202000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:45201800-45202000	Enhancers	Fetal Intestine Small	intestine
32	chr14:45202000-45202400	Enhancers	Fetal Lung	lung
33	chr14:45202400-45202800	Weak transcription	Fetal Lung	lung
34	chr14:45202600-45203400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:45202800-45203000	Enhancers	Fetal Lung	lung
36	chr14:45203000-45203800	Weak transcription	Fetal Lung	lung
37	chr14:45203400-45205200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:45203800-45204000	Enhancers	Fetal Lung	lung
39	chr14:45205200-45206200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:45206000-45206200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:45206200-45209200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:45206200-45210200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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