Variant report

Variant	esv2527042
Chromosome Location	chr14:46282835-46304468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:46288531-46288542	Gliobla	brain:	n/a	n/a
2	CTCF	chr14:46288322-46288739	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:46288479-46288533	LNCaP	prostate:	n/a	n/a
4	CTCF	chr14:46288494-46288537	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr14:46292925-46292950	LNCaP	prostate:	n/a	n/a
6	CTCF	chr14:46288465-46288530	Gliobla	brain:	n/a	n/a
7	POLR2A	chr14:46285394-46285425	ProgFib	skin:	n/a	n/a
8	POLR2A	chr14:46289564-46289640	GM12878	blood:	n/a	n/a
9	POLR2A	chr14:46303489-46303494	MCF10A-Er-Src	breast:	n/a	n/a
10	RCOR1	chr14:46288387-46288393	Hela-S3	cervix:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:46283117-46283167	HAEpiC	amniotic membrane:	n/a
2	chr14:46283117-46283167	HAEpiC	amniotic membrane:	n/a
3	chr14:46283172-46283222	NB4	blood:	n/a
4	chr14:46283172-46283222	CMK	blood:	n/a
5	chr14:46300358-46300408	NB4	blood:	n/a
6	chr14:46283117-46283167	HCPEpiC	choroid plexus:	n/a
7	chr14:46283172-46283222	AG04449	skin:	fetal
8	chr14:46300358-46300408	NT2-D1	testis:	n/a
9	chr14:46283172-46283222	SKMC	muscle:	n/a
10	chr14:46283172-46283222	GM06990	blood:	n/a
11	chr14:46283172-46283222	HEK293	kidney:	embryo
12	chr14:46283117-46283167	HRPEpiC	eye:	n/a
13	chr14:46283117-46283167	ECC-1	luminal epithelium:	n/a
14	chr14:46300358-46300408	AG04450	lung:	fetal
15	chr14:46300358-46300408	HRPEpiC	eye:	n/a
16	chr14:46283117-46283167	NHBE	bronchial:	n/a
17	chr14:46300358-46300408	AG04449	skin:	fetal
18	chr14:46283117-46283167	GM12878	blood:	n/a
19	chr14:46283117-46283167	U87	brain:	n/a
20	chr14:46283172-46283222	AG09309	skin:	n/a
21	chr14:46283172-46283222	HRCEpiC	kidney:	n/a
22	chr14:46283117-46283167	AoSMC	blood vessel:	n/a
23	chr14:46283172-46283222	HRE	kidney:	n/a
24	chr14:46283172-46283222	SK-N-SH_RA	brain:	n/a
25	chr14:46300358-46300408	NHBE	bronchial:	n/a
26	chr14:46300358-46300408	SAEC	small airway:	n/a
27	chr14:46300358-46300408	NHDF-neo	bronchial:	n/a
28	chr14:46283172-46283222	HPAEpiC	pulmonary alveolar:	n/a
29	chr14:46283117-46283167	HL-60	blood:	n/a
30	chr14:46283172-46283222	HCF	heart:	n/a
31	chr14:46300358-46300408	PFSK-1	brain:	n/a
32	chr14:46283117-46283167	BJ	skin:	n/a
33	chr14:46283172-46283222	Jurkat	blood:	n/a
34	chr14:46283117-46283167	GM12891	blood:	n/a
35	chr14:46283172-46283222	HCPEpiC	choroid plexus:	n/a
36	chr14:46300358-46300408	LNCaP	prostate:	n/a
37	chr14:46283172-46283222	AG09319	gingival:	n/a
38	chr14:46283117-46283167	AG04449	skin:	fetal
39	chr14:46283172-46283222	MCF10A-Er-Src	breast:	n/a
40	chr14:46283117-46283167	CMK	blood:	n/a
41	chr14:46283117-46283167	HIPEpiC	eye:	n/a
42	chr14:46300358-46300408	ECC-1	luminal epithelium:	n/a
43	chr14:46300358-46300408	AG10803	skin:	n/a
44	chr14:46283117-46283167	BE2_C	brain:	n/a
45	chr14:46283172-46283222	A549	lung:	n/a
46	chr14:46283117-46283167	HRCEpiC	kidney:	n/a
47	chr14:46300358-46300408	U87	brain:	n/a
48	chr14:46283172-46283222	NHDF-neo	bronchial:	n/a
49	chr14:46283172-46283222	GM12892	blood:	n/a
50	chr14:46300358-46300408	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000264420	TF binding region
ENSG00000264420	CpG island

Extended variants
information (count: 130 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149493291	chr14:46287203-46287204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530670097	chr14:46287282-46287283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200648469	chr14:46287291-46287292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553961780	chr14:46287303-46287304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201223752	chr14:46287304-46287305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34310685	chr14:46287305-46287306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550102333	chr14:46287318-46287319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185231859	chr14:46287337-46287338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530835080	chr14:46287390-46287391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529520717	chr14:46287405-46287406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548076618	chr14:46287539-46287540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140347030	chr14:46287553-46287554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539822221	chr14:46287598-46287599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117423217	chr14:46287627-46287628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142700906	chr14:46287642-46287643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189651455	chr14:46287652-46287653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183388150	chr14:46287660-46287661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573744015	chr14:46287671-46287672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540846667	chr14:46287689-46287690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552824105	chr14:46287711-46287712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111918747	chr14:46287716-46287717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544594365	chr14:46287759-46287760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75679778	chr14:46287788-46287789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530426665	chr14:46287791-46287792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189144543	chr14:46287853-46287854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560837602	chr14:46287868-46287869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570821789	chr14:46287882-46287883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147526601	chr14:46287929-46287930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74044260	chr14:46287933-46287934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558741810	chr14:46287957-46287958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374542310	chr14:46287979-46287980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201232113	chr14:46287980-46287981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533713750	chr14:46287985-46287986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76113082	chr14:46288017-46288018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569989589	chr14:46288041-46288042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537064407	chr14:46288095-46288096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546926797	chr14:46288116-46288117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537807975	chr14:46288124-46288125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs386777075	chr14:46288127-46288128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370225998	chr14:46288129-46288130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552789330	chr14:46288141-46288142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577513141	chr14:46288142-46288143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369416255	chr14:46288151-46288152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372943544	chr14:46288153-46288154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373164427	chr14:46288160-46288161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12880130	chr14:46288164-46288165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12878785	chr14:46288167-46288168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113785830	chr14:46288172-46288173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531946608	chr14:46288184-46288185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73237561	chr14:46288231-46288232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:54)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46287200-46289600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links