Variant report

Variant	nsv902061
Chromosome Location	chr14:67418872-67482629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67426302-67426423	K562	blood:	n/a	n/a
2	BATF	chr14:67464730-67465080	GM12878	blood:	n/a	n/a
3	BATF	chr14:67464772-67465078	GM12878	blood:	n/a	n/a
4	BATF	chr14:67446173-67446665	GM12878	blood:	n/a	n/a
5	BATF	chr14:67446182-67446668	GM12878	blood:	n/a	n/a
6	CBX3	chr14:67426117-67426644	HCT-116	colon:	n/a	n/a
7	CBX3	chr14:67426192-67426498	K562	blood:	n/a	n/a
8	CBX3	chr14:67426171-67426526	K562	blood:	n/a	n/a
9	CEBPB	chr14:67453038-67453359	MCF-7	breast:	n/a	n/a
10	CEBPB	chr14:67459527-67459755	A549	lung:	n/a	n/a
11	CEBPB	chr14:67459463-67459916	MCF-7	breast:	n/a	chr14:67459867-67459879
12	CEBPB	chr14:67437483-67437782	HepG2	liver:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
13	CEBPB	chr14:67427628-67427817	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:67437473-67437722	K562	blood:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
15	CEBPB	chr14:67429134-67429141	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr14:67466758-67467001	HepG2	liver:	n/a	n/a
17	CEBPB	chr14:67459465-67459705	HepG2	liver:	n/a	n/a
18	CEBPB	chr14:67453000-67453442	MCF-7	breast:	n/a	n/a
19	CEBPB	chr14:67444408-67444532	K562	blood:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
20	CEBPB	chr14:67437467-67437762	A549	lung:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
21	CEBPB	chr14:67444454-67444482	HepG2	liver:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
22	CHD1	chr14:67451927-67451950	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:67433120-67433270	NHDF-neo	bronchial:	n/a	n/a
24	CTCF	chr14:67477012-67477079	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:67431934-67432005	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:67419401-67419483	GM10248	blood:	n/a	n/a
27	E2F4	chr14:67432516-67432524	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr14:67453547-67453743	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr14:67441149-67441791	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr14:67464696-67465022	GM12878	blood:	n/a	n/a
31	EBF1	chr14:67464698-67465043	GM12878	blood:	n/a	n/a
32	ELK1	chr14:67461964-67461970	K562	blood:	n/a	n/a
33	EP300	chr14:67464882-67465019	GM12878	blood:	n/a	n/a
34	EP300	chr14:67441207-67441921	SK-N-SH	brain:	n/a	n/a
35	EP300	chr14:67464865-67465065	GM12878	blood:	n/a	n/a
36	EP300	chr14:67441215-67441856	ECC-1	luminal epithelium:	n/a	n/a
37	EP300	chr14:67432595-67432878	SK-N-SH_RA	brain:	n/a	n/a
38	EP300	chr14:67441416-67441671	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr14:67470493-67470770	SK-N-SH_RA	brain:	n/a	n/a
40	EP300	chr14:67434661-67434821	K562	blood:	n/a	chr14:67434748-67434762
41	EP300	chr14:67453000-67453329	T-47D	breast:	n/a	n/a
42	EP300	chr14:67441105-67441893	SK-N-SH	brain:	n/a	n/a
43	EP300	chr14:67441207-67441808	SK-N-SH	brain:	n/a	n/a
44	EP300	chr14:67432616-67432924	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr14:67441355-67441667	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr14:67432567-67432997	SK-N-SH	brain:	n/a	n/a
47	EP300	chr14:67461260-67461389	K562	blood:	n/a	n/a
48	FAM48A	chr14:67479781-67479852	GM12878	blood:	n/a	n/a
49	FOS	chr14:67432679-67432856	MCF10A-Er-Src	breast:	n/a	chr14:67432749-67432759
50	FOS	chr14:67441370-67441709	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:
2	chr14:67444463..67446896-chr14:67451565..67453172,2	MCF-7	breast:
3	chr14:67449084..67450996-chr14:67459728..67461438,2	MCF-7	breast:
4	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
5	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
6	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
7	chr14:67479779..67482733-chr14:67492427..67494033,2	MCF-7	breast:
8	chr14:67440552..67442279-chr14:67447848..67450195,2	K562	blood:
9	chr14:67399698..67402646-chr14:67452739..67454975,2	MCF-7	breast:
10	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
11	chr14:67440552..67442279-chr14:67447848..67450195,2	K562	blood:
12	chr14:67434832..67436768-chr14:67437010..67439165,2	MCF-7	breast:
13	chr14:67456859..67458700-chr14:67459610..67461852,2	MCF-7	breast:
14	chr14:67347067..67349521-chr14:67447070..67449089,2	MCF-7	breast:
15	chr14:67433076..67434830-chr14:67437019..67438976,2	MCF-7	breast:
16	chr14:67477930..67479660-chr14:67487049..67490010,2	K562	blood:
17	chr14:67433076..67434830-chr14:67437019..67438976,2	MCF-7	breast:
18	chr14:67441668..67442528-chr16:8599431..8600259,2	NB4	blood:
19	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:
20	chr14:67444463..67446896-chr14:67451565..67453172,2	MCF-7	breast:
21	chr14:67429713..67432459-chr14:67435741..67437652,2	K562	blood:
22	chr14:67449084..67450996-chr14:67459728..67461438,2	MCF-7	breast:
23	chr14:67470052..67470867-chr20:56048715..56049325,2	MCF-7	breast:
24	chr14:67456859..67458700-chr14:67459610..67461852,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1D-2	chr14:67436393-67436533	ENSG00000258490.1
2	lnc-ATP6V1D-2	chr14:67435755-67436127	ENSG00000258490.1

No data

Variant related genes	Relation type
ENSG00000258490	TF binding region
ENSG00000258490	chromatin interactions

Extended variants
information (count: 2082 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28817965	chr14:67418872-67418873	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559613510	chr14:67418875-67418876	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149492833	chr14:67418885-67418886	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533493830	chr14:67418886-67418887	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562502231	chr14:67418928-67418929	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551989018	chr14:67418995-67418996	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563914918	chr14:67418996-67418997	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566956877	chr14:67419007-67419008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531229157	chr14:67419011-67419012	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143960178	chr14:67419030-67419031	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568009924	chr14:67419094-67419095	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535123708	chr14:67419122-67419123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547438754	chr14:67419170-67419171	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371620026	chr14:67419188-67419189	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138697409	chr14:67419228-67419229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555041628	chr14:67419246-67419247	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372217556	chr14:67419247-67419248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142703097	chr14:67419319-67419320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147350210	chr14:67419450-67419451	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569559750	chr14:67419451-67419452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536898467	chr14:67419481-67419482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113784453	chr14:67419486-67419487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142446585	chr14:67419493-67419494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371596347	chr14:67419504-67419505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112751789	chr14:67419560-67419561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578138456	chr14:67419569-67419570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545566665	chr14:67419586-67419587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192239186	chr14:67419610-67419611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574791586	chr14:67419626-67419627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150027831	chr14:67419627-67419628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527482904	chr14:67419648-67419649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561448000	chr14:67419686-67419687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528807652	chr14:67419693-67419694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112984690	chr14:67419705-67419706	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116686679	chr14:67419710-67419711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371418553	chr14:67419720-67419721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532859077	chr14:67419758-67419759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371864795	chr14:67419769-67419770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540430089	chr14:67419830-67419831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145247844	chr14:67419836-67419837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141275945	chr14:67419848-67419849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377685176	chr14:67419863-67419864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536862901	chr14:67419869-67419870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373902423	chr14:67419881-67419882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555564929	chr14:67419885-67419886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114539379	chr14:67419931-67419932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368218874	chr14:67419937-67419938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372454340	chr14:67419952-67419953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10151405	chr14:67419996-67419997	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs578074004	chr14:67420044-67420045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67412200-67425000	Weak transcription	Gastric	stomach
2	chr14:67412200-67425800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:67412600-67426800	Weak transcription	Stomach Mucosa	stomach
4	chr14:67413600-67425000	Weak transcription	Brain Substantia Nigra	brain
5	chr14:67414200-67431800	Weak transcription	Hela-S3	cervix
6	chr14:67414200-67433600	Weak transcription	Brain Angular Gyrus	brain
7	chr14:67414400-67434600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr14:67414600-67419400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:67414600-67420200	Strong transcription	Liver	Liver
10	chr14:67414600-67420800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:67414600-67421000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:67414600-67422600	Weak transcription	Dnd41	blood
13	chr14:67414600-67424400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:67414600-67424400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:67414600-67424400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:67414600-67424400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:67414600-67424400	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:67414600-67424400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:67414600-67425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:67414600-67425000	Weak transcription	Fetal Kidney	kidney
21	chr14:67414600-67425000	Weak transcription	Fetal Lung	lung
22	chr14:67414600-67426400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr14:67414800-67424200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:67414800-67426200	Weak transcription	Brain Anterior Caudate	brain
25	chr14:67414800-67443800	Weak transcription	Fetal Stomach	stomach
26	chr14:67414800-67480000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:67415600-67419000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr14:67415600-67424200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr14:67415600-67439200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:67415600-67486400	Weak transcription	Pancreas	Pancrea
31	chr14:67415800-67424200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:67415800-67438200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:67416200-67419000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:67416200-67425000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:67416400-67420800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
37	chr14:67418000-67491400	Weak transcription	Ovary	ovary
38	chr14:67418400-67419200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr14:67419000-67419200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr14:67419000-67419200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr14:67419200-67424400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:67419200-67424400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:67420200-67421200	Weak transcription	Liver	Liver
44	chr14:67421200-67421800	Enhancers	Liver	Liver
45	chr14:67421800-67424200	Weak transcription	Liver	Liver
46	chr14:67422000-67422800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr14:67422600-67423200	ZNF genes & repeats	Dnd41	blood
48	chr14:67422800-67423200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr14:67423200-67424200	Weak transcription	Dnd41	blood
50	chr14:67423800-67424200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links