Variant report

Variant	nsv564960
Chromosome Location	chr14:67449344-67549803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67511249-67511316	HepG2	liver:	n/a	n/a
2	ATF1	chr14:67486765-67486805	K562	blood:	n/a	n/a
3	ATF1	chr14:67511991-67512190	K562	blood:	n/a	n/a
4	ATF1	chr14:67511217-67511586	K562	blood:	n/a	n/a
5	ATF2	chr14:67485530-67485788	GM12878	blood:	n/a	n/a
6	ATF2	chr14:67485387-67485875	GM12878	blood:	n/a	n/a
7	BACH1	chr14:67498772-67499037	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr14:67464772-67465078	GM12878	blood:	n/a	n/a
9	BATF	chr14:67464730-67465080	GM12878	blood:	n/a	n/a
10	BATF	chr14:67485470-67485766	GM12878	blood:	n/a	n/a
11	BCL11A	chr14:67485422-67485738	GM12878	blood:	n/a	chr14:67485656-67485665
12	BHLHE40	chr14:67511409-67511436	GM12878	blood:	n/a	n/a
13	BHLHE40	chr14:67485435-67485813	GM12878	blood:	n/a	n/a
14	BRCA1	chr14:67511829-67512028	GM12878	blood:	n/a	n/a
15	BRCA1	chr14:67511238-67511615	GM12878	blood:	n/a	chr14:67511245-67511252
16	BRCA1	chr14:67511723-67511744	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:67538342-67538521	MCF-7	breast:	n/a	chr14:67538413-67538424
18	CEBPB	chr14:67538292-67538590	Hela-S3	cervix:	n/a	chr14:67538413-67538424
19	CEBPB	chr14:67498459-67498897	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr14:67533888-67534144	HepG2	liver:	n/a	chr14:67533995-67534006
21	CEBPB	chr14:67466758-67467001	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:67533883-67534147	HepG2	liver:	n/a	chr14:67533995-67534006
23	CEBPB	chr14:67519362-67519448	HepG2	liver:	n/a	chr14:67519397-67519408
24	CEBPB	chr14:67453038-67453359	MCF-7	breast:	n/a	n/a
25	CEBPB	chr14:67533928-67534054	HepG2	liver:	n/a	chr14:67533995-67534006
26	CEBPB	chr14:67459465-67459705	HepG2	liver:	n/a	n/a
27	CEBPB	chr14:67538243-67538600	HepG2	liver:	n/a	chr14:67538413-67538424 chr14:67538583-67538596
28	CEBPB	chr14:67538273-67538588	H1-hESC	embryonic stem cell:	n/a	chr14:67538413-67538424
29	CEBPB	chr14:67538243-67538609	K562	blood:	n/a	chr14:67538413-67538424 chr14:67538583-67538596
30	CEBPB	chr14:67459463-67459916	MCF-7	breast:	n/a	chr14:67459867-67459879
31	CEBPB	chr14:67459527-67459755	A549	lung:	n/a	n/a
32	CEBPB	chr14:67533870-67534191	MCF-7	breast:	n/a	chr14:67533995-67534006
33	CEBPB	chr14:67519432-67519466	K562	blood:	n/a	n/a
34	CEBPB	chr14:67538257-67538602	IMR90	lung:	n/a	chr14:67538413-67538424 chr14:67538583-67538596
35	CEBPB	chr14:67538348-67538504	ECC-1	luminal epithelium:	n/a	chr14:67538413-67538424
36	CEBPB	chr14:67453000-67453442	MCF-7	breast:	n/a	n/a
37	CEBPB	chr14:67538259-67538609	MCF-7	breast:	n/a	chr14:67538413-67538424 chr14:67538583-67538596
38	CEBPB	chr14:67538272-67538598	A549	lung:	n/a	chr14:67538413-67538424 chr14:67538583-67538596
39	CHD1	chr14:67451927-67451950	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr14:67511245-67511446	GM12878	blood:	n/a	n/a
41	CHD2	chr14:67511409-67511609	GM12878	blood:	n/a	n/a
42	CTCF	chr14:67511280-67511430	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr14:67511400-67511550	GM12872	blood:	n/a	n/a
44	CTCF	chr14:67511348-67511431	Fibrobl	skin:	n/a	n/a
45	CTCF	chr14:67511380-67511530	HAc	cerebellar:	n/a	n/a
46	CTCF	chr14:67511880-67512030	GM12868	blood:	n/a	chr14:67511983-67511996
47	CTCF	chr14:67511300-67511450	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr14:67511860-67512010	GM12878	blood:	n/a	chr14:67511983-67511996
49	CTCF	chr14:67511330-67511518	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:67523120-67523171	GM13977	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67399698..67402646-chr14:67452739..67454975,2	MCF-7	breast:
2	chr14:67456859..67458700-chr14:67459610..67461852,2	MCF-7	breast:
3	chr14:67456859..67458700-chr14:67459610..67461852,2	MCF-7	breast:
4	chr14:67470052..67470867-chr20:56048715..56049325,2	MCF-7	breast:
5	chr14:67510207..67512789-chr14:67538433..67540909,2	K562	blood:
6	chr14:67440552..67442279-chr14:67447848..67450195,2	K562	blood:
7	chr14:67444463..67446896-chr14:67451565..67453172,2	MCF-7	breast:
8	chr14:67449084..67450996-chr14:67459728..67461438,2	MCF-7	breast:
9	chr14:67477930..67479660-chr14:67487049..67490010,2	K562	blood:
10	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:
11	chr14:67510207..67512789-chr14:67538433..67540909,2	K562	blood:
12	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
13	chr14:67449084..67450996-chr14:67459728..67461438,2	MCF-7	breast:
14	chr14:67477930..67479660-chr14:67487049..67490010,2	K562	blood:
15	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
16	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
17	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
18	chr14:67486765..67488657-chr14:67488979..67491560,2	K562	blood:
19	chr14:67486765..67488657-chr14:67488979..67491560,2	K562	blood:
20	chr14:67479779..67482733-chr14:67492427..67494033,2	MCF-7	breast:
21	chr14:67479779..67482733-chr14:67492427..67494033,2	MCF-7	breast:
22	chr14:67485290..67488265-chr14:67490060..67491590,2	K562	blood:
23	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:
24	chr14:67485290..67488265-chr14:67490060..67491590,2	K562	blood:

Variant related genes	Relation type
GPHN	TF binding region

Extended variants
information (count: 3392 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:3392 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11621555	chr14:67449344-67449345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568384979	chr14:67449353-67449354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575778185	chr14:67449392-67449393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529255182	chr14:67449426-67449427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115500605	chr14:67449436-67449437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148804048	chr14:67449440-67449441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529152087	chr14:67449486-67449487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75101580	chr14:67449527-67449528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190696159	chr14:67449533-67449534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559628514	chr14:67449538-67449539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533349916	chr14:67449695-67449696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113024054	chr14:67449715-67449716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539938929	chr14:67449734-67449735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530551920	chr14:67449744-67449745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537547736	chr14:67449751-67449752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549517396	chr14:67449762-67449763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567781618	chr14:67449795-67449796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111834799	chr14:67449836-67449837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553578990	chr14:67449862-67449863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142447669	chr14:67449867-67449868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147947165	chr14:67449882-67449883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111831260	chr14:67449894-67449895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113908626	chr14:67449938-67449939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs557332563	chr14:67449974-67449975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79168166	chr14:67450027-67450028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570217651	chr14:67450038-67450039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147075814	chr14:67450050-67450051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561893001	chr14:67450053-67450054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573732546	chr14:67450057-67450058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375568728	chr14:67450076-67450077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187966237	chr14:67450111-67450112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537374223	chr14:67450216-67450217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555989059	chr14:67450305-67450306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559678118	chr14:67450312-67450313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192438003	chr14:67450402-67450403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs17103786	chr14:67450422-67450423	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs563684459	chr14:67450432-67450433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545375853	chr14:67450436-67450437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140985342	chr14:67450452-67450453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116485391	chr14:67450507-67450508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567779143	chr14:67450619-67450620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534894690	chr14:67450621-67450622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547217005	chr14:67450639-67450640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35051596	chr14:67450660-67450661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571560111	chr14:67450682-67450683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184554817	chr14:67450724-67450725	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557295660	chr14:67450848-67450849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569332095	chr14:67450853-67450854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74056542	chr14:67450873-67450874	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371251400	chr14:67450875-67450876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67414800-67480000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr14:67415600-67486400	Weak transcription	Pancreas	Pancrea
3	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
4	chr14:67418000-67491400	Weak transcription	Ovary	ovary
5	chr14:67424800-67456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
7	chr14:67427000-67460800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:67427400-67453000	Weak transcription	Psoas Muscle	Psoas
9	chr14:67427600-67464800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr14:67427600-67498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:67427800-67459200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:67428000-67454000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:67429800-67469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:67432600-67454600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:67438000-67491400	Weak transcription	Fetal Intestine Small	intestine
16	chr14:67446200-67474600	Weak transcription	Fetal Kidney	kidney
17	chr14:67446600-67464200	Weak transcription	GM12878-XiMat	blood
18	chr14:67447000-67450400	Weak transcription	Liver	Liver
19	chr14:67447000-67468600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:67447200-67490600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr14:67449200-67491000	Weak transcription	Adipose Nuclei	Adipose
22	chr14:67449800-67491400	Weak transcription	Right Ventricle	heart
23	chr14:67450400-67452200	Strong transcription	Liver	Liver
24	chr14:67450800-67459200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:67451400-67468600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:67451400-67476800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:67452000-67471400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr14:67452200-67453600	Weak transcription	Liver	Liver
29	chr14:67452200-67455200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:67452600-67477200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:67453600-67454200	Strong transcription	Liver	Liver
32	chr14:67454200-67456600	Weak transcription	Liver	Liver
33	chr14:67454600-67455000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:67455000-67468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:67455000-67469800	Weak transcription	Osteobl	bone
36	chr14:67456600-67457200	Strong transcription	Liver	Liver
37	chr14:67456800-67467000	Weak transcription	Fetal Intestine Large	intestine
38	chr14:67457200-67458800	Weak transcription	Liver	Liver
39	chr14:67458800-67460400	Enhancers	Liver	Liver
40	chr14:67459200-67459800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr14:67459600-67460400	Enhancers	HepG2	liver
42	chr14:67460400-67462200	Weak transcription	Liver	Liver
43	chr14:67460400-67466600	Weak transcription	HepG2	liver
44	chr14:67461000-67476400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:67462200-67462800	Strong transcription	Liver	Liver
46	chr14:67462800-67464200	Weak transcription	Liver	Liver
47	chr14:67463000-67475000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:67463800-67492800	Weak transcription	Brain Substantia Nigra	brain
49	chr14:67464200-67465000	Strong transcription	Liver	Liver
50	chr14:67464200-67465000	Enhancers	GM12878-XiMat	blood

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