Variant report

Variant	esv3359271
Chromosome Location	chr14:45266727-45269575
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	chr14:45170460..45172820-chr14:45265448..45267600,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529509699	chr14:45266731-45266732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548052723	chr14:45266745-45266746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564279925	chr14:45266801-45266802	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs565754030	chr14:45266806-45266807	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs539189041	chr14:45266810-45266811	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs551476568	chr14:45266812-45266813	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs569517461	chr14:45266868-45266869	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs536652146	chr14:45266883-45266884	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553478094	chr14:45266890-45266891	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs138609732	chr14:45266897-45266898	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs191234910	chr14:45266908-45266909	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552917496	chr14:45266937-45266938	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183159733	chr14:45266944-45266945	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577787463	chr14:45266956-45266957	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs186663912	chr14:45266958-45266959	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs367847429	chr14:45266968-45266969	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs142740260	chr14:45267034-45267035	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs576459800	chr14:45267082-45267083	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs191121215	chr14:45267110-45267111	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74649161	chr14:45267112-45267113	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35882503	chr14:45267113-45267114	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs80096277	chr14:45267114-45267115	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs397852542	chr14:45267120-45267121	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs547989512	chr14:45267133-45267134	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs559664069	chr14:45267207-45267208	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs533591036	chr14:45267221-45267222	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs551142847	chr14:45267225-45267226	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187948378	chr14:45267281-45267282	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536640401	chr14:45267323-45267324	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200265895	chr14:45267368-45267369	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs548602495	chr14:45267424-45267425	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193232391	chr14:45267457-45267458	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567199553	chr14:45267482-45267483	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534573492	chr14:45267489-45267490	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553245537	chr14:45267622-45267623	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571312183	chr14:45267647-45267648	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538832870	chr14:45267663-45267664	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs371559516	chr14:45267688-45267689	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs557969849	chr14:45267717-45267718	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs10146481	chr14:45267727-45267728	Active TSS Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs543825177	chr14:45267805-45267806	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367896478	chr14:45267828-45267829	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114782524	chr14:45267829-45267830	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574105651	chr14:45267834-45267835	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372389203	chr14:45267853-45267854	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541329853	chr14:45267868-45267869	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570474627	chr14:45267892-45267893	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560005394	chr14:45267896-45267897	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533358275	chr14:45267899-45267900	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545622345	chr14:45267910-45267911	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45263800-45267600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:45264800-45267600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:45264800-45272200	Weak transcription	Fetal Lung	lung
4	chr14:45266800-45268000	Active TSS	Ovary	ovary
5	chr14:45267000-45267200	Active TSS	Fetal Intestine Small	intestine
6	chr14:45267000-45268000	Active TSS	Lung	lung
7	chr14:45267200-45267600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:45267400-45267600	Active TSS	Placenta	Placenta
9	chr14:45267400-45268000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr14:45267400-45268400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:45267400-45268400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:45267600-45267800	Flanking Active TSS	Placenta	Placenta
13	chr14:45267600-45268000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr14:45267600-45268000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr14:45267600-45268000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:45267600-45268000	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr14:45267600-45268000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:45267600-45268000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:45267600-45268000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:45267600-45268000	Active TSS	Gastric	stomach
21	chr14:45267600-45268000	Active TSS	Pancreas	Pancrea
22	chr14:45267600-45268000	Active TSS	Right Ventricle	heart
23	chr14:45267600-45268400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr14:45268000-45268400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:45268000-45268400	Active TSS	HSMM	muscle

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