Variant report

Variant	nsv902064
Chromosome Location	chr14:67441407-67485640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:67485530-67485788	GM12878	blood:	n/a	n/a
2	ATF2	chr14:67485387-67485875	GM12878	blood:	n/a	n/a
3	BATF	chr14:67485470-67485766	GM12878	blood:	n/a	n/a
4	BATF	chr14:67446182-67446668	GM12878	blood:	n/a	n/a
5	BATF	chr14:67464772-67465078	GM12878	blood:	n/a	n/a
6	BATF	chr14:67464730-67465080	GM12878	blood:	n/a	n/a
7	BATF	chr14:67446173-67446665	GM12878	blood:	n/a	n/a
8	BCL11A	chr14:67485422-67485738	GM12878	blood:	n/a	chr14:67485656-67485665
9	BHLHE40	chr14:67485435-67485813	GM12878	blood:	n/a	n/a
10	CEBPB	chr14:67444408-67444532	K562	blood:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
11	CEBPB	chr14:67459463-67459916	MCF-7	breast:	n/a	chr14:67459867-67459879
12	CEBPB	chr14:67453038-67453359	MCF-7	breast:	n/a	n/a
13	CEBPB	chr14:67453000-67453442	MCF-7	breast:	n/a	n/a
14	CEBPB	chr14:67459465-67459705	HepG2	liver:	n/a	n/a
15	CEBPB	chr14:67459527-67459755	A549	lung:	n/a	n/a
16	CEBPB	chr14:67466758-67467001	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:67444454-67444482	HepG2	liver:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
18	CHD1	chr14:67451927-67451950	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:67477012-67477079	LNCaP	prostate:	n/a	n/a
20	CUX1	chr14:67485444-67485889	GM12878	blood:	n/a	n/a
21	E2F4	chr14:67453547-67453743	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F4	chr14:67441149-67441791	MCF10A-Er-Src	breast:	n/a	n/a
23	EBF1	chr14:67464696-67465022	GM12878	blood:	n/a	n/a
24	EBF1	chr14:67483277-67483414	GM12878	blood:	n/a	chr14:67483304-67483315 chr14:67483306-67483316
25	EBF1	chr14:67485585-67485760	GM12878	blood:	n/a	n/a
26	EBF1	chr14:67464698-67465043	GM12878	blood:	n/a	n/a
27	ELK1	chr14:67461964-67461970	K562	blood:	n/a	n/a
28	ELK1	chr14:67485558-67485760	GM12878	blood:	n/a	n/a
29	EP300	chr14:67441215-67441856	ECC-1	luminal epithelium:	n/a	n/a
30	EP300	chr14:67485465-67485801	GM12878	blood:	n/a	chr14:67485651-67485665 chr14:67485657-67485671
31	EP300	chr14:67441207-67441808	SK-N-SH	brain:	n/a	n/a
32	EP300	chr14:67453000-67453329	T-47D	breast:	n/a	n/a
33	EP300	chr14:67461260-67461389	K562	blood:	n/a	n/a
34	EP300	chr14:67464882-67465019	GM12878	blood:	n/a	n/a
35	EP300	chr14:67441355-67441667	SK-N-SH_RA	brain:	n/a	n/a
36	EP300	chr14:67441416-67441671	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr14:67470493-67470770	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr14:67464865-67465065	GM12878	blood:	n/a	n/a
39	EP300	chr14:67441207-67441921	SK-N-SH	brain:	n/a	n/a
40	EP300	chr14:67485448-67485761	GM12878	blood:	n/a	chr14:67485651-67485665 chr14:67485657-67485671
41	EP300	chr14:67441105-67441893	SK-N-SH	brain:	n/a	n/a
42	FAM48A	chr14:67479781-67479852	GM12878	blood:	n/a	n/a
43	FOS	chr14:67469739-67470007	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr14:67441370-67441699	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
45	FOS	chr14:67441370-67441709	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
46	FOS	chr14:67441362-67441726	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
47	FOS	chr14:67441431-67441684	HUVEC	blood vessel:	n/a	chr14:67441557-67441568
48	FOS	chr14:67441406-67441724	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
49	FOSL2	chr14:67441304-67441698	SK-N-SH	brain:	n/a	n/a
50	FOSL2	chr14:67441220-67441782	SK-N-SH	brain:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67449084..67450996-chr14:67459728..67461438,2	MCF-7	breast:
2	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
3	chr14:67440552..67442279-chr14:67447848..67450195,2	K562	blood:
4	chr14:67477930..67479660-chr14:67487049..67490010,2	K562	blood:
5	chr14:67456859..67458700-chr14:67459610..67461852,2	MCF-7	breast:
6	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
7	chr14:67456859..67458700-chr14:67459610..67461852,2	MCF-7	breast:
8	chr14:67441668..67442528-chr16:8599431..8600259,2	NB4	blood:
9	chr14:67440552..67442279-chr14:67447848..67450195,2	K562	blood:
10	chr14:67485290..67488265-chr14:67490060..67491590,2	K562	blood:
11	chr14:67399698..67402646-chr14:67452739..67454975,2	MCF-7	breast:
12	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
13	chr14:67479779..67482733-chr14:67492427..67494033,2	MCF-7	breast:
14	chr14:67444463..67446896-chr14:67451565..67453172,2	MCF-7	breast:
15	chr14:67444463..67446896-chr14:67451565..67453172,2	MCF-7	breast:
16	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:
17	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
18	chr14:67470052..67470867-chr20:56048715..56049325,2	MCF-7	breast:
19	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:
20	chr14:67347067..67349521-chr14:67447070..67449089,2	MCF-7	breast:
21	chr14:67449084..67450996-chr14:67459728..67461438,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258490	TF binding region

Extended variants
information (count: 1390 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1390 , 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	rs60550390	chr14:67441407-67441408	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190716458	chr14:67441446-67441447	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs529904131	chr14:67441503-67441504	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs150487486	chr14:67441504-67441505	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533123081	chr14:67441602-67441603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552705803	chr14:67441621-67441622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193011380	chr14:67441663-67441664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551706924	chr14:67441744-67441745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570078013	chr14:67441753-67441754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138313495	chr14:67441764-67441765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555920572	chr14:67441793-67441794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567790616	chr14:67441908-67441909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535209484	chr14:67441912-67441913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149193136	chr14:67441961-67441962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578159793	chr14:67441988-67441989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10142297	chr14:67442013-67442014	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs566323175	chr14:67442065-67442066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143322227	chr14:67442089-67442090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575654183	chr14:67442093-67442094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148334810	chr14:67442101-67442102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561430838	chr14:67442122-67442123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529021327	chr14:67442154-67442155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185330024	chr14:67442161-67442162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559285605	chr14:67442213-67442214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143104980	chr14:67442238-67442239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551718371	chr14:67442284-67442285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189045218	chr14:67442321-67442322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76663582	chr14:67442446-67442447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539683703	chr14:67442512-67442513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530906654	chr14:67442571-67442572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147464066	chr14:67442660-67442661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567756900	chr14:67442720-67442721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181436215	chr14:67442766-67442767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185619660	chr14:67442777-67442778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552023051	chr14:67442783-67442784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188420965	chr14:67442786-67442787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570524877	chr14:67442823-67442824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180973244	chr14:67442844-67442845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185847743	chr14:67442907-67442908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138277832	chr14:67442913-67442914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143798216	chr14:67442937-67442938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375047290	chr14:67443032-67443033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554992322	chr14:67443089-67443090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150594493	chr14:67443105-67443106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111841755	chr14:67443121-67443122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556621532	chr14:67443139-67443140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs8013401	chr14:67443159-67443160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs577786978	chr14:67443207-67443208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74056540	chr14:67443226-67443227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563560921	chr14:67443319-67443320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67414800-67443800	Weak transcription	Fetal Stomach	stomach
2	chr14:67414800-67480000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:67415600-67486400	Weak transcription	Pancreas	Pancrea
4	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
5	chr14:67418000-67491400	Weak transcription	Ovary	ovary
6	chr14:67424800-67456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
8	chr14:67426200-67446000	Weak transcription	Fetal Kidney	kidney
9	chr14:67427000-67460800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr14:67427400-67453000	Weak transcription	Psoas Muscle	Psoas
11	chr14:67427600-67464800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:67427600-67498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:67427800-67459200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr14:67428000-67454000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:67429800-67469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:67432600-67441800	Weak transcription	Brain Substantia Nigra	brain
17	chr14:67432600-67454600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:67438000-67491400	Weak transcription	Fetal Intestine Small	intestine
19	chr14:67438200-67445800	Weak transcription	GM12878-XiMat	blood
20	chr14:67440400-67444800	Weak transcription	Liver	Liver
21	chr14:67440600-67442200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr14:67440600-67442400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:67440800-67442200	Enhancers	Osteobl	bone
24	chr14:67441200-67441800	Enhancers	A549	lung
25	chr14:67441200-67441800	Enhancers	NHEK	skin
26	chr14:67444800-67447000	Strong transcription	Liver	Liver
27	chr14:67445800-67446600	Enhancers	GM12878-XiMat	blood
28	chr14:67446000-67446200	Enhancers	Fetal Kidney	kidney
29	chr14:67446000-67446400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:67446000-67446400	Enhancers	NHDF-Ad	bronchial
31	chr14:67446200-67474600	Weak transcription	Fetal Kidney	kidney
32	chr14:67446600-67464200	Weak transcription	GM12878-XiMat	blood
33	chr14:67447000-67450400	Weak transcription	Liver	Liver
34	chr14:67447000-67468600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr14:67447200-67490600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:67448800-67449200	Enhancers	Adipose Nuclei	Adipose
37	chr14:67449200-67491000	Weak transcription	Adipose Nuclei	Adipose
38	chr14:67449800-67491400	Weak transcription	Right Ventricle	heart
39	chr14:67450400-67452200	Strong transcription	Liver	Liver
40	chr14:67450800-67459200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:67451400-67468600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:67451400-67476800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:67452000-67471400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:67452200-67453600	Weak transcription	Liver	Liver
45	chr14:67452200-67455200	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:67452600-67477200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:67453600-67454200	Strong transcription	Liver	Liver
48	chr14:67454200-67456600	Weak transcription	Liver	Liver
49	chr14:67454600-67455000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:67455000-67468600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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