Variant report

Variant	esv1800640
Chromosome Location	chr14:40590110-40608928
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	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:
2	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:

Extended variants
information (count: 162 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8016593	chr14:40590110-40590111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187792457	chr14:40590125-40590126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79155596	chr14:40590127-40590128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565458238	chr14:40590208-40590209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2012059	chr14:40590209-40590210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148175073	chr14:40590211-40590212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567374166	chr14:40590212-40590213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374270700	chr14:40590240-40590241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376519242	chr14:40590244-40590245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371443876	chr14:40590249-40590250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373728495	chr14:40590252-40590253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367563841	chr14:40590258-40590259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs193175601	chr14:40590267-40590268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371491127	chr14:40590276-40590277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371705218	chr14:40590277-40590278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567193975	chr14:40590279-40590280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs375866383	chr14:40590282-40590283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113780056	chr14:40590284-40590285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150605624	chr14:40590368-40590369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558613440	chr14:40590375-40590376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565984357	chr14:40590377-40590378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554771245	chr14:40590382-40590383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368784709	chr14:40590383-40590384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs3065970	chr14:40590392-40590393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549490893	chr14:40590413-40590414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs8018358	chr14:40590428-40590429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs117876389	chr14:40590465-40590466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574572590	chr14:40590493-40590494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527725412	chr14:40590510-40590511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs35532927	chr14:40590541-40590542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543587008	chr14:40590573-40590574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184213514	chr14:40590690-40590691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576794931	chr14:40590703-40590704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545798284	chr14:40590738-40590739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565410738	chr14:40590755-40590756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35630802	chr14:40590791-40590792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527980550	chr14:40590814-40590815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77505158	chr14:40590822-40590823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73297071	chr14:40590848-40590849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530131458	chr14:40590862-40590863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141259658	chr14:40590869-40590870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs60529997	chr14:40590920-40590921	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368585430	chr14:40590922-40590923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563685475	chr14:40590999-40591000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143057344	chr14:40591065-40591066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552565658	chr14:40591086-40591087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139750442	chr14:40591161-40591162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565935650	chr14:40591195-40591196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12897273	chr14:40591200-40591201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs187308849	chr14:40591229-40591230	Weak transcription Enhancers	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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	22102821	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40589000-40593600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:40589800-40592400	Weak transcription	GM12878-XiMat	blood
3	chr14:40590000-40591800	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:40590000-40592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:40590200-40591200	Weak transcription	Fetal Kidney	kidney
6	chr14:40591000-40593600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:40591200-40594000	Enhancers	Fetal Kidney	kidney
8	chr14:40591400-40593400	Enhancers	Brain Germinal Matrix	brain
9	chr14:40591800-40593800	Enhancers	Colon Smooth Muscle	Colon
10	chr14:40592000-40592200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:40592000-40592200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:40592000-40592200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr14:40592000-40592800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:40592200-40592600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:40592200-40592600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr14:40592200-40592600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:40592200-40592600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:40592200-40592600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr14:40592200-40592800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:40592400-40592800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:40592400-40592800	Flanking Active TSS	GM12878-XiMat	blood
22	chr14:40592400-40593400	Enhancers	Rectal Smooth Muscle	rectum
23	chr14:40592600-40592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:40592600-40592800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr14:40592600-40593000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:40592800-40593400	Enhancers	GM12878-XiMat	blood
27	chr14:40593000-40593400	Enhancers	Fetal Intestine Small	intestine

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