Variant report

Variant	esv1838057
Chromosome Location	chr14:40588541-40617594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:
2	chr14:40608918..40609568-chr14:40618396..40619170,2	MCF-7	breast:
3	chr14:40608613..40610201-chr14:40616714..40618460,3	MCF-7	breast:

Extended variants
information (count: 215 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560907562	chr14:40588605-40588606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529610004	chr14:40588619-40588620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181488540	chr14:40588657-40588658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs8016368	chr14:40588658-40588659	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150304198	chr14:40588664-40588665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61325656	chr14:40588665-40588666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571672875	chr14:40588670-40588671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534071962	chr14:40588714-40588715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373479989	chr14:40588751-40588752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35966928	chr14:40588759-40588760	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369009136	chr14:40588825-40588826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74916070	chr14:40588912-40588913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78150130	chr14:40588913-40588914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556005574	chr14:40588928-40588929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186511067	chr14:40588949-40588950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11628894	chr14:40588969-40588970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs532228929	chr14:40588980-40588981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564943105	chr14:40589032-40589033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190902157	chr14:40589052-40589053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183321241	chr14:40589091-40589092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542738143	chr14:40589108-40589109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541174217	chr14:40589114-40589115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560846358	chr14:40589137-40589138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144901930	chr14:40589155-40589156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140876608	chr14:40589166-40589167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114029749	chr14:40589167-40589168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371366679	chr14:40589178-40589179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77717001	chr14:40589217-40589218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186903843	chr14:40589408-40589409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190743645	chr14:40589439-40589440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202170699	chr14:40589440-40589441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397710581	chr14:40589448-40589449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530329346	chr14:40589551-40589552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374112783	chr14:40589559-40589560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72685040	chr14:40589564-40589565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549826721	chr14:40589582-40589583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564823150	chr14:40589587-40589588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76396486	chr14:40589602-40589603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556975282	chr14:40589656-40589657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376358338	chr14:40589657-40589658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138926184	chr14:40589671-40589672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567437100	chr14:40589711-40589712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536216294	chr14:40589712-40589713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142189713	chr14:40589722-40589723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547281339	chr14:40589799-40589800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538597144	chr14:40589836-40589837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183306113	chr14:40589882-40589883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143818507	chr14:40589901-40589902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551777431	chr14:40589958-40589959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370800636	chr14:40589975-40589976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40588600-40589000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:40588600-40589800	Enhancers	GM12878-XiMat	blood
3	chr14:40588800-40589400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:40588800-40590000	Enhancers	Colon Smooth Muscle	Colon
5	chr14:40589000-40593600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr14:40589400-40589800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:40589800-40590000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:40589800-40590000	Enhancers	Fetal Kidney	kidney
9	chr14:40589800-40592400	Weak transcription	GM12878-XiMat	blood
10	chr14:40590000-40591800	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:40590000-40592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:40590200-40591200	Weak transcription	Fetal Kidney	kidney
13	chr14:40591000-40593600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:40591200-40594000	Enhancers	Fetal Kidney	kidney
15	chr14:40591400-40593400	Enhancers	Brain Germinal Matrix	brain
16	chr14:40591800-40593800	Enhancers	Colon Smooth Muscle	Colon
17	chr14:40592000-40592200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:40592000-40592200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr14:40592000-40592200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr14:40592000-40592800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:40592200-40592600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:40592200-40592600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr14:40592200-40592600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr14:40592200-40592600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:40592200-40592600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr14:40592200-40592800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:40592400-40592800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:40592400-40592800	Flanking Active TSS	GM12878-XiMat	blood
29	chr14:40592400-40593400	Enhancers	Rectal Smooth Muscle	rectum
30	chr14:40592600-40592800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:40592600-40592800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:40592600-40593000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:40592800-40593400	Enhancers	GM12878-XiMat	blood
34	chr14:40593000-40593400	Enhancers	Fetal Intestine Small	intestine

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