Variant report

Variant	esv3450670
Chromosome Location	chr14:42070274-42070652
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	chr14:41749762..41750647-chr14:42069299..42070355,5	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116214413	chr14:42070301-42070302	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536159629	chr14:42070305-42070306	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368872125	chr14:42070334-42070335	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142333252	chr14:42070338-42070339	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs201728720	chr14:42070428-42070429	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558057805	chr14:42070433-42070434	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375852627	chr14:42070450-42070451	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534259507	chr14:42070462-42070463	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559071412	chr14:42070468-42070469	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577448108	chr14:42070511-42070512	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188708091	chr14:42070515-42070516	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562916649	chr14:42070516-42070517	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575027361	chr14:42070527-42070528	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200551374	chr14:42070542-42070543	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542165810	chr14:42070545-42070546	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531591152	chr14:42070549-42070550	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371248321	chr14:42070563-42070564	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28755010	chr14:42070583-42070584	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527899310	chr14:42070627-42070628	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552390406	chr14:42070629-42070630	Active TSS Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42067000-42074000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:42067200-42073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:42067200-42073800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:42067400-42073600	Weak transcription	Placenta	Placenta
5	chr14:42068400-42071400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr14:42069200-42070600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:42069600-42070800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:42069600-42070800	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:42069600-42072200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:42069600-42073000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:42069800-42070800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:42069800-42071000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:42069800-42071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:42069800-42071800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:42069800-42072000	Enhancers	Fetal Lung	lung
16	chr14:42069800-42072200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:42069800-42073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:42070000-42070400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:42070200-42070600	Enhancers	Fetal Muscle Trunk	muscle
20	chr14:42070200-42070800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr14:42070200-42070800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:42070200-42071000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:42070200-42071800	Weak transcription	Fetal Heart	heart
24	chr14:42070200-42076800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr14:42070400-42070600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:42070600-42071000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr14:42070600-42071200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:42070600-42073000	Weak transcription	Fetal Muscle Trunk	muscle

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