Variant report

Variant	nsv1047930
Chromosome Location	chr14:41896122-41968734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:41956888..41958612-chr14:41960214..41961890,2	MCF-7	breast:
2	chr14:41916762..41919309-chr14:41919759..41921480,2	K562	blood:
3	chr14:41916762..41919309-chr14:41919759..41921480,2	K562	blood:
4	chr14:41931064..41933309-chr14:41934938..41936692,2	MCF-7	breast:
5	chr14:41931064..41933309-chr14:41934938..41936692,2	MCF-7	breast:
6	chr14:41952601..41955142-chr4:3784821..3786920,2	MCF-7	breast:
7	chr14:41956888..41958612-chr14:41960214..41961890,2	MCF-7	breast:

Extended variants
information (count: 1358 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1358 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368865296	chr14:41896204-41896205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144717131	chr14:41896285-41896286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576265362	chr14:41896288-41896289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12588899	chr14:41896295-41896296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200258092	chr14:41896302-41896303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541416347	chr14:41896327-41896328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559809407	chr14:41896333-41896334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138451332	chr14:41896371-41896372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189712118	chr14:41896377-41896378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs988090	chr14:41896380-41896381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149412055	chr14:41896410-41896411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549593257	chr14:41896411-41896412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567799002	chr14:41896418-41896419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12882326	chr14:41896467-41896468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143754527	chr14:41896471-41896472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181277936	chr14:41896479-41896480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565349927	chr14:41896560-41896561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527647103	chr14:41896569-41896570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7144930	chr14:41896650-41896651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557766848	chr14:41896651-41896652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141984723	chr14:41896685-41896686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs543239408	chr14:41896704-41896705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555566784	chr14:41896713-41896714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72682863	chr14:41896715-41896716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147245525	chr14:41896716-41896717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75778461	chr14:41896728-41896729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559744635	chr14:41896774-41896775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368097721	chr14:41896777-41896778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545431664	chr14:41896796-41896797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563818431	chr14:41896806-41896807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550335450	chr14:41896819-41896820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138992481	chr14:41896848-41896849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142988779	chr14:41896870-41896871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113768863	chr14:41896871-41896872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528919580	chr14:41896886-41896887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189112754	chr14:41896925-41896926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565487876	chr14:41896926-41896927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539055599	chr14:41896931-41896932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115321945	chr14:41896981-41896982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147495333	chr14:41897014-41897015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537375606	chr14:41897112-41897113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181449891	chr14:41897223-41897224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61991626	chr14:41897243-41897244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs79765410	chr14:41897277-41897278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553501643	chr14:41897282-41897283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578078235	chr14:41897312-41897313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192217457	chr14:41897316-41897317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7149000	chr14:41897318-41897319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575818371	chr14:41897334-41897335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77284820	chr14:41897354-41897355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41895400-41897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:41895800-41896200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41896200-41896800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:41897400-41897800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr14:41897400-41898000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:41898000-41902400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:41899400-41899800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:41902200-41907600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:41902400-41902600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:41911200-41911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:41911400-41914200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:41914000-41914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr14:41914000-41914800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:41914000-41915200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:41914000-41916000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr14:41914000-41916600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr14:41914000-41916600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr14:41914200-41915200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:41914800-41915600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr14:41915200-41915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:41915200-41915600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:41915600-41916200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr14:41915600-41917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:41916600-41918200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:41916600-41919000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:41917000-41918400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:41918200-41919000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:41918200-41919400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr14:41918400-41919200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:41918400-41919200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:41918400-41919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr14:41919000-41919200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:41919000-41919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr14:41919200-41919400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:41919200-41926800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:41919400-41923600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:41923600-41923800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:41923800-41924400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr14:41924400-41925400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr14:41925600-41925800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:41926400-41927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr14:41927200-41928200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:41928600-41928800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:41933400-41934200	Enhancers	Brain Germinal Matrix	brain
45	chr14:41933600-41934000	Enhancers	Fetal Brain Male	brain
46	chr14:41933800-41934400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr14:41933800-41935000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:41938400-41942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr14:41942200-41942600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:41942200-41942600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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