Variant report

Variant	nsv564562
Chromosome Location	chr14:41908202-41966939
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 877 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551675722	chr14:41911214-41911215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144649988	chr14:41911239-41911240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534130459	chr14:41911244-41911245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10133442	chr14:41911256-41911257	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372342844	chr14:41911286-41911287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540009052	chr14:41911313-41911314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564753345	chr14:41911326-41911327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375403696	chr14:41911386-41911387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532424957	chr14:41911410-41911411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544297482	chr14:41911415-41911416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563039717	chr14:41911442-41911443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535475596	chr14:41911498-41911499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530027974	chr14:41911509-41911510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548594642	chr14:41911571-41911572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10133886	chr14:41911575-41911576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528006401	chr14:41911590-41911591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141647611	chr14:41911695-41911696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571056997	chr14:41911714-41911715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538485353	chr14:41911785-41911786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557081232	chr14:41911817-41911818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72682876	chr14:41911818-41911819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs150500176	chr14:41911833-41911834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554570905	chr14:41911836-41911837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189081062	chr14:41911843-41911844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577897133	chr14:41911886-41911887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540145684	chr14:41911903-41911904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558470885	chr14:41911942-41911943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375449578	chr14:41911944-41911945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114786290	chr14:41912022-41912023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562820396	chr14:41912028-41912029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530236580	chr14:41912031-41912032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541826221	chr14:41912052-41912053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560547416	chr14:41912067-41912068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527944345	chr14:41912090-41912091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116934609	chr14:41912153-41912154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140406263	chr14:41912211-41912212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8016790	chr14:41912243-41912244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs74358380	chr14:41912262-41912263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568830879	chr14:41912266-41912267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181512464	chr14:41912276-41912277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547833379	chr14:41912380-41912381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578244251	chr14:41912393-41912394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566461251	chr14:41912432-41912433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533584206	chr14:41912438-41912439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376687027	chr14:41912529-41912530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558414250	chr14:41912583-41912584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576755546	chr14:41912589-41912590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147795613	chr14:41912815-41912816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556341674	chr14:41912820-41912821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574800016	chr14:41912821-41912822	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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41911200-41911400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr14:41911400-41914200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:41914000-41914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr14:41914000-41914800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr14:41914000-41915200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:41914000-41916000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:41914000-41916600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr14:41914000-41916600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr14:41914200-41915200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:41914800-41915600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:41915200-41915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:41915200-41915600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr14:41915600-41916200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:41915600-41917000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr14:41916600-41918200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:41916600-41919000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:41917000-41918400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:41918200-41919000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:41918200-41919400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr14:41918400-41919200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:41918400-41919200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:41918400-41919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:41919000-41919200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr14:41919000-41919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr14:41919200-41919400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:41919200-41926800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:41919400-41923600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:41923600-41923800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:41923800-41924400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:41924400-41925400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:41925600-41925800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:41926400-41927200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:41927200-41928200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:41928600-41928800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr14:41933400-41934200	Enhancers	Brain Germinal Matrix	brain
36	chr14:41933600-41934000	Enhancers	Fetal Brain Male	brain
37	chr14:41933800-41934400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:41933800-41935000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:41938400-41942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:41942200-41942600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:41942200-41942600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:41942200-41942800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr14:41942200-41942800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr14:41942200-41942800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr14:41942200-41942800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:41942200-41942800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:41942200-41943000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr14:41942400-41942600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:41942400-41942800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:41942600-41943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links