Variant report

Variant	nsv901657
Chromosome Location	chr14:39410706-39460072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:220)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:220 , 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	chr14:39433888-39434438	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:39427974-39428216	HepG2	liver:	n/a	chr14:39428089-39428102 chr14:39428089-39428100 chr14:39428090-39428101
3	CEBPB	chr14:39412428-39412479	HepG2	liver:	n/a	n/a
4	CTCF	chr14:39410777-39410956	MCF-7	breast:	n/a	n/a
5	CTCF	chr14:39410760-39410910	AG04449	skin:	n/a	n/a
6	CTCF	chr14:39410980-39411130	HVMF	connective:	n/a	n/a
7	CTCF	chr14:39410760-39410910	AG09309	skin:	n/a	n/a
8	CTCF	chr14:39410780-39410930	HMF	breast:	n/a	n/a
9	CTCF	chr14:39410800-39410950	AG09309	skin:	n/a	n/a
10	CTCF	chr14:39410842-39410911	Gliobla	brain:	n/a	n/a
11	CTCF	chr14:39410740-39410890	BE2_C	brain:	n/a	n/a
12	CTCF	chr14:39440500-39440650	NHEK	skin:	n/a	n/a
13	CTCF	chr14:39410760-39410910	Caco-2	colon:	n/a	n/a
14	CTCF	chr14:39410780-39410930	AG09319	gingival:	n/a	n/a
15	CTCF	chr14:39410640-39410790	HVMF	connective:	n/a	n/a
16	CTCF	chr14:39410780-39410930	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr14:39410762-39410990	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:39440780-39440930	BE2_C	brain:	n/a	n/a
19	CTCF	chr14:39440580-39440730	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr14:39410820-39410970	HFF	foreskin:	n/a	n/a
21	CTCF	chr14:39410800-39410950	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr14:39440640-39440790	A549	lung:	n/a	n/a
23	CTCF	chr14:39410760-39410910	GM12865	blood:	n/a	n/a
24	CTCF	chr14:39440580-39440730	BE2_C	brain:	n/a	n/a
25	CTCF	chr14:39410780-39410978	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:39410800-39410950	BJ	skin:	n/a	n/a
27	CTCF	chr14:39410815-39410906	Fibrobl	skin:	n/a	n/a
28	CTCF	chr14:39410780-39410930	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr14:39410820-39410970	A549	lung:	n/a	n/a
30	CTCF	chr14:39440540-39440690	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:39410840-39410990	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr14:39410780-39410930	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr14:39431640-39431790	BE2_C	brain:	n/a	n/a
34	CTCF	chr14:39440600-39440750	HEK293	kidney:	n/a	n/a
35	CTCF	chr14:39410782-39411021	K562	blood:	n/a	n/a
36	CTCF	chr14:39410793-39410968	HepG2	liver:	n/a	n/a
37	CTCF	chr14:39410820-39410970	AG09319	gingival:	n/a	n/a
38	CTCF	chr14:39410760-39410910	HepG2	liver:	n/a	n/a
39	CTCF	chr14:39410770-39410970	MCF-7	breast:	n/a	n/a
40	CTCF	chr14:39440640-39440790	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr14:39410820-39410970	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr14:39410759-39411030	GM12878	blood:	n/a	n/a
43	CTCF	chr14:39410780-39410930	AG04449	skin:	n/a	n/a
44	CTCF	chr14:39410820-39410970	HCM	heart:	n/a	n/a
45	CTCF	chr14:39410960-39411110	HCM	heart:	n/a	n/a
46	CTCF	chr14:39410808-39410948	ProgFib	skin:	n/a	n/a
47	CTCF	chr14:39410780-39410930	NHEK	skin:	n/a	n/a
48	CTCF	chr14:39440540-39440690	NHEK	skin:	n/a	n/a
49	CTCF	chr14:39410820-39410970	Caco-2	colon:	n/a	n/a
50	CTCF	chr14:39410860-39411010	HAc	cerebellar:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39412833..39415383-chr14:39419578..39422326,3	MCF-7	breast:
2	chr14:39457540..39460115-chr14:39498272..39500421,2	MCF-7	breast:
3	chr14:39409994..39412907-chr14:39426330..39428595,2	MCF-7	breast:
4	chr14:39409994..39412907-chr14:39426330..39428595,2	MCF-7	breast:
5	chr14:39410789..39411608-chr14:39483894..39485313,6	MCF-7	breast:
6	chr14:39412833..39415383-chr14:39419578..39422326,3	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEC23A-1	chr14:39417382-39417441	ENSG00000259070.1
2	lnc-GEMIN2-2	chr14:39420872-39420994	NONHSAT036504
3	lnc-SEC23A-1	chr14:39410724-39410899	ENSG00000259070.1
4	lnc-GEMIN2-2	chr14:39420873-39420994	XLOC_010810
5	lnc-GEMIN2-2	chr14:39434292-39434491	XLOC_010810
6	lnc-GEMIN2-2	chr14:39434292-39434404	XLOC_010810
7	lnc-GEMIN2-2	chr14:39425420-39425537	XLOC_010810
8	lnc-SEC23A-1	chr14:39410724-39410899	ENSG00000259070.1
9	lnc-GEMIN2-2	chr14:39425420-39425537	XLOC_010810
10	lnc-GEMIN2-2	chr14:39420873-39420994	XLOC_010810
11	lnc-SEC23A-1	chr14:39417382-39417410	ENSG00000259070.1
12	lnc-GEMIN2-2	chr14:39434291-39434404	NONHSAT036504
13	lnc-GEMIN2-2	chr14:39425419-39425537	NONHSAT036504

No data

Variant related genes	Relation type
LINC00639	TF binding region
ENSG00000199285	TF binding region
ENSG00000270713	TF binding region
CROT	miRNA target sites
TCTA	miRNA target sites
EIF2C1	miRNA target sites
TDG	miRNA target sites

Extended variants
information (count: 1339 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:1339 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2025061	chr14:39410706-39410707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543491745	chr14:39410754-39410755	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs117532122	chr14:39410771-39410772	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs563633533	chr14:39410779-39410780	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs532145155	chr14:39410838-39410839	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs552548715	chr14:39410909-39410910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559692705	chr14:39410911-39410912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528339068	chr14:39410922-39410923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368567035	chr14:39410926-39410927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568210013	chr14:39410937-39410938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36059504	chr14:39410951-39410952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536379965	chr14:39410973-39410974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180738923	chr14:39410992-39410993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569761079	chr14:39411037-39411038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538637851	chr14:39411043-39411044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372180885	chr14:39411086-39411087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567657978	chr14:39411099-39411100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77537472	chr14:39411154-39411155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114455826	chr14:39411221-39411222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184620278	chr14:39411251-39411252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552099670	chr14:39411290-39411291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144466349	chr14:39411291-39411292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543200840	chr14:39411294-39411295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148425587	chr14:39411301-39411302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576974629	chr14:39411310-39411311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8005797	chr14:39411311-39411312	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559360880	chr14:39411331-39411332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2025060	chr14:39411367-39411368	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117949941	chr14:39411429-39411430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189487477	chr14:39411434-39411435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561760742	chr14:39411448-39411449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530729616	chr14:39411531-39411532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72669397	chr14:39411635-39411636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568909722	chr14:39411639-39411640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373645749	chr14:39411689-39411690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11625859	chr14:39411711-39411712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs538719218	chr14:39411743-39411744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539311572	chr14:39411823-39411824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552169893	chr14:39411836-39411837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11625924	chr14:39411862-39411863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535037482	chr14:39411878-39411879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555242381	chr14:39411894-39411895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568605301	chr14:39411906-39411907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369741083	chr14:39411911-39411912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537663519	chr14:39411914-39411915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557540860	chr14:39411940-39411941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577032382	chr14:39411948-39411949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545878734	chr14:39411983-39411984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147292279	chr14:39411985-39411986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572774422	chr14:39412004-39412005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Invasive pancreatic ductal carcinoma	16982739	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
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39406000-39412600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:39409200-39412000	Weak transcription	Brain Hippocampus Middle	brain
3	chr14:39409200-39412200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:39410200-39412400	Weak transcription	Brain Substantia Nigra	brain
5	chr14:39411200-39411400	Enhancers	Brain Anterior Caudate	brain
6	chr14:39411400-39412000	Weak transcription	Brain Anterior Caudate	brain
7	chr14:39412000-39412600	Enhancers	Brain Anterior Caudate	brain
8	chr14:39412000-39413800	Enhancers	Brain Hippocampus Middle	brain
9	chr14:39412200-39412600	Enhancers	Brain Cingulate Gyrus	brain
10	chr14:39412200-39412800	Enhancers	Pancreas	Pancrea
11	chr14:39412200-39413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:39412200-39414400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:39412400-39416200	Enhancers	Brain Substantia Nigra	brain
14	chr14:39412600-39412800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr14:39412600-39412800	Enhancers	Left Ventricle	heart
16	chr14:39412600-39413200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr14:39412600-39413200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:39412800-39413800	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:39412800-39413800	Weak transcription	Pancreas	Pancrea
20	chr14:39412800-39417800	Weak transcription	Left Ventricle	heart
21	chr14:39413000-39416600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr14:39413200-39413600	Enhancers	Brain Anterior Caudate	brain
23	chr14:39413200-39413600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:39413400-39413800	Enhancers	Brain Angular Gyrus	brain
25	chr14:39413600-39413800	Active TSS	Brain Anterior Caudate	brain
26	chr14:39413600-39414000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:39413800-39414000	Enhancers	Brain Anterior Caudate	brain
28	chr14:39413800-39414200	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr14:39413800-39414200	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr14:39413800-39414200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr14:39414000-39414200	Active TSS	Brain Anterior Caudate	brain
32	chr14:39414000-39414200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:39414000-39414200	Enhancers	Pancreas	Pancrea
34	chr14:39414000-39414200	Enhancers	Right Atrium	heart
35	chr14:39414200-39414400	Enhancers	Brain Cingulate Gyrus	brain
36	chr14:39414200-39415600	Weak transcription	Brain Anterior Caudate	brain
37	chr14:39414200-39415600	Enhancers	Brain Hippocampus Middle	brain
38	chr14:39414200-39433600	Weak transcription	Brain Angular Gyrus	brain
39	chr14:39414400-39416000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:39414400-39416000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr14:39415600-39416200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr14:39415600-39417800	Active TSS	Brain Anterior Caudate	brain
43	chr14:39416000-39416200	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr14:39416000-39416200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr14:39416200-39416400	Active TSS	Brain Hippocampus Middle	brain
46	chr14:39416200-39416800	Active TSS	Brain Cingulate Gyrus	brain
47	chr14:39416200-39416800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr14:39416200-39416800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr14:39416400-39416600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr14:39416400-39418400	Enhancers	HMEC	breast

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