Variant report

Variant	nsv564384
Chromosome Location	chr14:38233493-38262762
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	chr14:38246221-38246634	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:38257325-38257703	HepG2	liver:	n/a	n/a
3	ARID3A	chr14:38260485-38261042	HepG2	liver:	n/a	chr14:38260596-38260612 chr14:38260595-38260611
4	BHLHE40	chr14:38257273-38257648	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:38247669-38247776	HepG2	liver:	n/a	chr14:38247739-38247750
6	CEBPB	chr14:38257305-38257887	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:38257352-38257584	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:38257326-38257980	HepG2	liver:	n/a	n/a
9	CTCF	chr14:38247900-38248050	HepG2	liver:	n/a	n/a
10	CTCF	chr14:38247620-38247770	HepG2	liver:	n/a	n/a
11	CTCF	chr14:38247308-38247370	MCF-7	breast:	n/a	n/a
12	E2F4	chr14:38258819-38258856	MCF10A-Er-Src	breast:	n/a	n/a
13	ELF1	chr14:38260590-38261091	HepG2	liver:	n/a	chr14:38260845-38260856
14	ELF1	chr14:38260533-38261215	HepG2	liver:	n/a	chr14:38260845-38260856
15	EP300	chr14:38253378-38253841	HepG2	liver:	n/a	n/a
16	EP300	chr14:38257196-38257810	HepG2	liver:	n/a	chr14:38257461-38257471
17	EP300	chr14:38246240-38246698	HepG2	liver:	n/a	n/a
18	EP300	chr14:38257284-38257703	HepG2	liver:	n/a	chr14:38257461-38257471
19	EP300	chr14:38260444-38261082	HepG2	liver:	n/a	chr14:38260700-38260710 chr14:38260806-38260820 chr14:38260847-38260856
20	EP300	chr14:38260329-38261092	HepG2	liver:	n/a	chr14:38260700-38260710 chr14:38260806-38260820 chr14:38260847-38260856
21	EP300	chr14:38257331-38257673	HepG2	liver:	n/a	chr14:38257461-38257471
22	EP300	chr14:38254606-38254938	HepG2	liver:	n/a	n/a
23	FOSL2	chr14:38246237-38246627	HepG2	liver:	n/a	n/a
24	FOXA1	chr14:38257217-38257737	HepG2	liver:	n/a	n/a
25	FOXA1	chr14:38257222-38258135	HepG2	liver:	n/a	n/a
26	FOXA1	chr14:38246157-38246779	HepG2	liver:	n/a	n/a
27	FOXA1	chr14:38245399-38245641	T-47D	breast:	n/a	n/a
28	FOXA1	chr14:38260403-38261023	HepG2	liver:	n/a	chr14:38260697-38260709 chr14:38260695-38260710
29	FOXA1	chr14:38257194-38258085	HepG2	liver:	n/a	n/a
30	FOXA1	chr14:38243641-38243959	HepG2	liver:	n/a	n/a
31	FOXA1	chr14:38253355-38253843	HepG2	liver:	n/a	n/a
32	FOXA1	chr14:38257161-38257667	HepG2	liver:	n/a	n/a
33	FOXA1	chr14:38260599-38260795	T-47D	breast:	n/a	chr14:38260697-38260709 chr14:38260695-38260710
34	FOXA1	chr14:38246155-38246787	HepG2	liver:	n/a	n/a
35	FOXA1	chr14:38253369-38253722	HepG2	liver:	n/a	n/a
36	FOXA1	chr14:38260475-38261137	HepG2	liver:	n/a	chr14:38260697-38260709 chr14:38260695-38260710
37	FOXA1	chr14:38260375-38261666	HepG2	liver:	n/a	chr14:38260697-38260709 chr14:38260695-38260710
38	FOXA1	chr14:38253235-38253830	HepG2	liver:	n/a	n/a
39	FOXA1	chr14:38260391-38260970	HepG2	liver:	n/a	chr14:38260697-38260709 chr14:38260695-38260710
40	FOXA2	chr14:38260623-38260923	A549	lung:	n/a	chr14:38260697-38260709
41	FOXA2	chr14:38257248-38257839	HepG2	liver:	n/a	n/a
42	FOXA2	chr14:38241351-38241898	A549	lung:	n/a	n/a
43	FOXA2	chr14:38253481-38253739	HepG2	liver:	n/a	n/a
44	FOXA2	chr14:38261344-38261666	HepG2	liver:	n/a	n/a
45	FOXA2	chr14:38260524-38260981	HepG2	liver:	n/a	chr14:38260697-38260709
46	FOXA2	chr14:38259595-38262168	HepG2	liver:	n/a	chr14:38260697-38260709
47	HDAC2	chr14:38257105-38257898	HepG2	liver:	n/a	n/a
48	HDAC2	chr14:38260509-38261159	HepG2	liver:	n/a	chr14:38260807-38260821 chr14:38260805-38260819 chr14:38260700-38260709 chr14:38260810-38260824
49	HDAC2	chr14:38260503-38261003	HepG2	liver:	n/a	chr14:38260807-38260821 chr14:38260805-38260819 chr14:38260700-38260709 chr14:38260810-38260824
50	HEY1	chr14:38241734-38241948	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38241730-38241780	MCF-7	breast:	n/a
2	chr14:38241730-38241780	HCF	heart:	n/a
3	chr14:38241730-38241780	HL-60	blood:	n/a
4	chr14:38241730-38241780	GM19239	blood:	n/a
5	chr14:38241730-38241780	GM06990	blood:	n/a
6	chr14:38241730-38241780	NHBE	bronchial:	n/a
7	chr14:38241730-38241780	Hepatocyte	liver:	n/a
8	chr14:38241730-38241780	HEK293	kidney:	embryo
9	chr14:38241730-38241780	SAEC	small airway:	n/a
10	chr14:38241730-38241780	SK-N-SH_RA	brain:	n/a
11	chr14:38241730-38241780	HNPCEpiC	eye:	n/a
12	chr14:38241730-38241780	SK-N-SH	brain:	n/a
13	chr14:38241730-38241780	T-47D	breast:	n/a
14	chr14:38241730-38241780	AG04450	lung:	fetal
15	chr14:38241730-38241780	ECC-1	luminal epithelium:	n/a
16	chr14:38241730-38241780	NB4	blood:	n/a
17	chr14:38241730-38241780	GM12891	blood:	n/a
18	chr14:38241730-38241780	NH-A	brain:	n/a
19	chr14:38241730-38241780	HCPEpiC	choroid plexus:	n/a
20	chr14:38241730-38241780	HEEpiC	esophagus:	n/a
21	chr14:38241730-38241780	NT2-D1	testis:	n/a
22	chr14:38241730-38241780	SK-N-MC	brain:	n/a
23	chr14:38241730-38241780	BJ	skin:	n/a
24	chr14:38241730-38241780	K562	blood:	n/a
25	chr14:38241730-38241780	IMR90	lung:	fetal
26	chr14:38241730-38241780	Jurkat	blood:	n/a
27	chr14:38241730-38241780	HCM	heart:	n/a
28	chr14:38241730-38241780	MCF10A-Er-Src	breast:	n/a
29	chr14:38241730-38241780	HMEC	breast:	n/a
30	chr14:38241730-38241780	PFSK-1	brain:	n/a
31	chr14:38241730-38241780	AG09319	gingival:	n/a
32	chr14:38241730-38241780	HRE	kidney:	n/a
33	chr14:38241730-38241780	HRPEpiC	eye:	n/a
34	chr14:38241730-38241780	AG09309	skin:	n/a
35	chr14:38241730-38241780	HepG2	liver:	n/a
36	chr14:38241730-38241780	PANC-1	pancreas:	n/a
37	chr14:38241730-38241780	AG04449	skin:	fetal
38	chr14:38241730-38241780	HPAEpiC	pulmonary alveolar:	n/a
39	chr14:38241730-38241780	BE2_C	brain:	n/a
40	chr14:38241730-38241780	ProgFib	skin:	n/a
41	chr14:38241730-38241780	RPTEC	kidney:	n/a
42	chr14:38241730-38241780	AoSMC	blood vessel:	n/a
43	chr14:38241730-38241780	GM12892	blood:	n/a
44	chr14:38241730-38241780	HRCEpiC	kidney:	n/a
45	chr14:38241730-38241780	LNCaP	prostate:	n/a
46	chr14:38241730-38241780	SKMC	muscle:	n/a
47	chr14:38241730-38241780	ovcar-3	ovarian:	n/a
48	chr14:38241730-38241780	HAEpiC	amniotic membrane:	n/a
49	chr14:38241730-38241780	AG10803	skin:	n/a
50	chr14:38241730-38241780	A549	lung:	n/a

Variant related genes	Relation type
TTC6	TF binding region
TTC6	CpG island

Extended variants
information (count: 900 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:900 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148862979	chr14:38233603-38233604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142552678	chr14:38233687-38233688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554862157	chr14:38233694-38233695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61977125	chr14:38233827-38233828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs189743419	chr14:38233846-38233847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554644297	chr14:38233853-38233854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574400795	chr14:38233883-38233884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537158335	chr14:38233980-38233981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201547474	chr14:38233984-38233985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12894542	chr14:38234048-38234049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12894547	chr14:38234055-38234056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577269602	chr14:38234063-38234064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12894677	chr14:38234076-38234077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12894699	chr14:38234103-38234104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76260992	chr14:38234153-38234154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149780633	chr14:38234185-38234186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181063845	chr14:38234271-38234272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7156854	chr14:38234285-38234286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs574669797	chr14:38234293-38234294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150940514	chr14:38234361-38234362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559259491	chr14:38234430-38234431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78127889	chr14:38234453-38234454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541113857	chr14:38234492-38234493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372111790	chr14:38234524-38234525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373091678	chr14:38234551-38234552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185548750	chr14:38234560-38234561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376336186	chr14:38234575-38234576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191531636	chr14:38234609-38234610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1957581	chr14:38234610-38234611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538954030	chr14:38234625-38234626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550319645	chr14:38234629-38234630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7157460	chr14:38234632-38234633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs183362398	chr14:38234668-38234669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552891429	chr14:38234695-38234696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4278655	chr14:38234725-38234726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566288287	chr14:38234761-38234762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188815559	chr14:38234846-38234847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191952122	chr14:38234876-38234877	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs568065731	chr14:38234880-38234881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs8003755	chr14:38234970-38234971	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545450395	chr14:38234971-38234972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs73254842	chr14:38235006-38235007	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74045695	chr14:38235017-38235018	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140816636	chr14:38235068-38235069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144563822	chr14:38235069-38235070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6571821	chr14:38235106-38235107	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542117448	chr14:38235240-38235241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs8003990	chr14:38235246-38235247	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558476795	chr14:38235247-38235248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183406351	chr14:38235288-38235289	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38233600-38234800	Weak transcription	Liver	Liver
2	chr14:38234800-38235600	ZNF genes & repeats	Liver	Liver
3	chr14:38235600-38237000	Weak transcription	Liver	Liver
4	chr14:38241600-38241800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr14:38241600-38241800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:38241600-38242000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr14:38241600-38242000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:38241600-38242000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:38241600-38242000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:38241600-38242200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:38241600-38242400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr14:38241800-38247200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:38242000-38247600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:38244000-38244800	Weak transcription	Liver	Liver
15	chr14:38246200-38247400	Enhancers	HepG2	liver
16	chr14:38247200-38247600	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr14:38247200-38247800	ZNF genes & repeats	Gastric	stomach
18	chr14:38247200-38247800	ZNF genes & repeats	Pancreas	Pancrea
19	chr14:38247200-38248000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:38247400-38247600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:38247600-38247800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:38247800-38249400	Weak transcription	Gastric	stomach
23	chr14:38248000-38248400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:38253000-38255200	Enhancers	HepG2	liver
25	chr14:38255200-38255600	ZNF genes & repeats	Fetal Stomach	stomach
26	chr14:38255200-38256600	Weak transcription	HepG2	liver
27	chr14:38256600-38257800	Enhancers	HepG2	liver
28	chr14:38257800-38258000	Flanking Active TSS	HepG2	liver
29	chr14:38258000-38258400	Enhancers	HepG2	liver
30	chr14:38258400-38259400	Weak transcription	HepG2	liver
31	chr14:38259400-38259600	ZNF genes & repeats	Pancreas	Pancrea
32	chr14:38259400-38261600	Enhancers	HepG2	liver
33	chr14:38259600-38260000	Weak transcription	Fetal Intestine Small	intestine
34	chr14:38260200-38260600	Enhancers	Liver	Liver
35	chr14:38260600-38261200	Flanking Active TSS	Liver	Liver
36	chr14:38260600-38261200	Enhancers	Stomach Mucosa	stomach
37	chr14:38261200-38261400	Enhancers	Liver	Liver
38	chr14:38261600-38266000	Weak transcription	HepG2	liver

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