Variant report

Variant	nsv1045557
Chromosome Location	chr14:39044244-39102223
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	chr14:39074579-39075360	HepG2	liver:	n/a	n/a
2	BACH1	chr14:39047510-39047825	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:39095780-39095980	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr14:39097276-39097343	HepG2	liver:	n/a	chr14:39097320-39097331
5	CEBPB	chr14:39075104-39075339	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:39095711-39096045	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:39074857-39075368	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:39089539-39089542	HepG2	liver:	n/a	n/a
9	CEBPB	chr14:39095716-39096026	IMR90	lung:	n/a	n/a
10	CEBPB	chr14:39060274-39060299	HepG2	liver:	n/a	chr14:39060283-39060294
11	CEBPZ	chr14:39075696-39075760	HepG2	liver:	n/a	n/a
12	CHD2	chr14:39077696-39077728	HepG2	liver:	n/a	n/a
13	CTCF	chr14:39069900-39070050	WI-38	lung:	n/a	n/a
14	CTCF	chr14:39087772-39088005	HepG2	liver:	n/a	n/a
15	CTCF	chr14:39087840-39087990	GM12872	blood:	n/a	n/a
16	CTCF	chr14:39087840-39087990	GM12875	blood:	n/a	n/a
17	CTCF	chr14:39074720-39074870	HRE	kidney:	n/a	chr14:39074777-39074798
18	CTCF	chr14:39069920-39070070	HCM	heart:	n/a	n/a
19	CTCF	chr14:39069880-39070030	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr14:39074680-39074830	HRPEpiC	eye:	n/a	chr14:39074777-39074798
21	CTCF	chr14:39074720-39074870	AG10803	skin:	n/a	chr14:39074777-39074798
22	CTCF	chr14:39069880-39070030	AG04449	skin:	n/a	n/a
23	CTCF	chr14:39074585-39075073	HepG2	liver:	n/a	chr14:39074777-39074798
24	CTCF	chr14:39074720-39074870	HCFaa	heart:	n/a	chr14:39074777-39074798
25	CTCF	chr14:39087840-39087990	GM12867	blood:	n/a	n/a
26	CTCF	chr14:39087840-39087990	HRE	kidney:	n/a	n/a
27	CTCF	chr14:39069893-39070082	LNCaP	prostate:	n/a	n/a
28	CTCF	chr14:39058860-39059010	HepG2	liver:	n/a	n/a
29	CTCF	chr14:39074700-39074850	HCT-116	colon:	n/a	chr14:39074777-39074798
30	CTCF	chr14:39087460-39087610	GM12864	blood:	n/a	n/a
31	CTCF	chr14:39087760-39087910	HFF-Myc	foreskin:	n/a	n/a
32	CTCF	chr14:39069880-39070030	BE2_C	brain:	n/a	n/a
33	CTCF	chr14:39074727-39074869	MCF-7	breast:	n/a	chr14:39074777-39074798
34	CTCF	chr14:39087780-39087930	NB4	blood:	n/a	n/a
35	CTCF	chr14:39087852-39087999	GM19239	blood:	n/a	n/a
36	CTCF	chr14:39069920-39070070	HRPEpiC	eye:	n/a	n/a
37	CTCF	chr14:39087900-39088050	GM12865	blood:	n/a	n/a
38	CTCF	chr14:39087800-39087950	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr14:39069900-39070050	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr14:39091560-39091710	HepG2	liver:	n/a	n/a
41	CTCF	chr14:39097020-39097170	HepG2	liver:	n/a	n/a
42	CTCF	chr14:39069835-39070005	GM12878	blood:	n/a	n/a
43	CTCF	chr14:39074582-39075033	MCF-7	breast:	n/a	chr14:39074777-39074798
44	CTCF	chr14:39074633-39074931	HepG2	liver:	n/a	chr14:39074777-39074798
45	CTCF	chr14:39069880-39070030	GM12873	blood:	n/a	n/a
46	CTCF	chr14:39074757-39074866	LNCaP	prostate:	n/a	chr14:39074777-39074798
47	CTCF	chr14:39069880-39070030	NHEK	skin:	n/a	n/a
48	CTCF	chr14:39074756-39074793	K562	blood:	n/a	n/a
49	CTCF	chr14:39069802-39070047	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr14:39074731-39074869	HepG2	liver:	n/a	chr14:39074777-39074798

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39074650..39075215-chr14:39484283..39484824,2	MCF-7	breast:
2	chr14:38372874..38373419-chr14:39069490..39070036,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR1-7	chr14:39074459-39075302	NONHSAT036493

Variant related genes	Relation type
ENSG00000271468	TF binding region

Extended variants
information (count: 778 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:778 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577959407	chr14:39045235-39045236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546313066	chr14:39045268-39045269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559761052	chr14:39045302-39045303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201958024	chr14:39045348-39045349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542180853	chr14:39045353-39045354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369913303	chr14:39045358-39045359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113249688	chr14:39045359-39045360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374667323	chr14:39045376-39045377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552585011	chr14:39045380-39045381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371474619	chr14:39045386-39045387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186340555	chr14:39045461-39045462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377067033	chr14:39045468-39045469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2415492	chr14:39045469-39045470	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs111472154	chr14:39045502-39045503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564328016	chr14:39045510-39045511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190356922	chr14:39045556-39045557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546881815	chr14:39045571-39045572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566533433	chr14:39045649-39045650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528995052	chr14:39045652-39045653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1988704	chr14:39045674-39045675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556575065	chr14:39045678-39045679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182980684	chr14:39045682-39045683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185969661	chr14:39045683-39045684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558127323	chr14:39045727-39045728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554981567	chr14:39045737-39045738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536638076	chr14:39045740-39045741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535320776	chr14:39045760-39045761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1839382	chr14:39045785-39045786	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553709618	chr14:39045805-39045806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573269093	chr14:39045806-39045807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541983470	chr14:39045808-39045809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113076461	chr14:39045809-39045810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575273647	chr14:39045843-39045844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544208654	chr14:39045869-39045870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564390388	chr14:39045902-39045903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533467501	chr14:39045928-39045929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140258213	chr14:39045942-39045943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145243113	chr14:39045960-39045961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528961569	chr14:39045961-39045962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548853198	chr14:39045980-39045981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs137858257	chr14:39045984-39045985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531293830	chr14:39046028-39046029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551401950	chr14:39046032-39046033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370289378	chr14:39046068-39046069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8023249	chr14:39046072-39046073	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs149539590	chr14:39046101-39046102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190733157	chr14:39046146-39046147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112189070	chr14:39046153-39046154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs546689626	chr14:39046158-39046159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535933545	chr14:39046162-39046163	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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	21364760	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39045200-39045600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:39045400-39045800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:39045800-39046600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:39046000-39046600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:39046600-39047600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:39047200-39047400	Enhancers	HSMMtube	muscle
7	chr14:39047200-39047600	Enhancers	Hela-S3	cervix
8	chr14:39047400-39047800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:39047400-39047800	Enhancers	Fetal Muscle Trunk	muscle
10	chr14:39047400-39048000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr14:39047600-39047800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr14:39047600-39048000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:39058600-39059200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:39062000-39062600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:39073800-39074600	Enhancers	HepG2	liver
16	chr14:39074400-39075800	Enhancers	Liver	Liver
17	chr14:39074600-39075200	Flanking Active TSS	HepG2	liver
18	chr14:39075200-39076200	Enhancers	HepG2	liver
19	chr14:39076200-39077400	Weak transcription	HepG2	liver
20	chr14:39077400-39078000	Enhancers	HepG2	liver
21	chr14:39080600-39080800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr14:39080800-39081200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:39080800-39081800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr14:39080800-39082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:39080800-39082200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr14:39081000-39081600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:39081000-39082000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr14:39081200-39081600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr14:39081200-39087600	Weak transcription	Psoas Muscle	Psoas
30	chr14:39081600-39081800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr14:39081600-39081800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:39081800-39082000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:39081800-39083000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:39082000-39083000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:39082200-39082600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:39082600-39083000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr14:39082800-39083600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:39083000-39083200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr14:39083000-39083200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:39083000-39083600	Enhancers	Brain Hippocampus Middle	brain
41	chr14:39083000-39084400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:39083200-39083600	Enhancers	Brain Cingulate Gyrus	brain
43	chr14:39083200-39083600	Enhancers	Brain Substantia Nigra	brain
44	chr14:39083200-39084200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:39083600-39085800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr14:39083600-39085800	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:39083600-39085800	Weak transcription	Brain Substantia Nigra	brain
48	chr14:39084200-39084600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr14:39084400-39086400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:39084600-39085400	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links