Variant report

Variant	esv3375419
Chromosome Location	chr1:95542089-95542697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95542401-95542451	GM12878	blood:	n/a
2	chr1:95542401-95542451	Hela-S3	cervix:	n/a
3	chr1:95542401-95542451	HepG2	liver:	n/a
4	chr1:95542401-95542451	PANC-1	pancreas:	n/a
5	chr1:95542401-95542451	MCF10A-Er-Src	breast:	n/a
6	chr1:95542401-95542451	SK-N-SH_RA	brain:	n/a
7	chr1:95542401-95542451	MCF-7	breast:	n/a
8	chr1:95542401-95542451	SAEC	small airway:	n/a
9	chr1:95542401-95542451	PFSK-1	brain:	n/a
10	chr1:95542401-95542451	AG09319	gingival:	n/a
11	chr1:95542401-95542451	HRCEpiC	kidney:	n/a
12	chr1:95542401-95542451	AG10803	skin:	n/a
13	chr1:95542401-95542451	PrEC	prostate:	n/a
14	chr1:95542401-95542451	Caco-2	colon:	n/a
15	chr1:95542401-95542451	GM12892	blood:	n/a
16	chr1:95542401-95542451	ProgFib	skin:	n/a
17	chr1:95542401-95542451	HCF	heart:	n/a
18	chr1:95542401-95542451	RPTEC	kidney:	n/a
19	chr1:95542401-95542451	AG04450	lung:	fetal
20	chr1:95542401-95542451	NH-A	brain:	n/a
21	chr1:95542401-95542451	HRE	kidney:	n/a
22	chr1:95542401-95542451	GM19239	blood:	n/a
23	chr1:95542401-95542451	BE2_C	brain:	n/a
24	chr1:95542401-95542451	HRPEpiC	eye:	n/a
25	chr1:95542401-95542451	IMR90	lung:	fetal
26	chr1:95542401-95542451	HL-60	blood:	n/a
27	chr1:95542401-95542451	AoSMC	blood vessel:	n/a
28	chr1:95542401-95542451	AG09309	skin:	n/a
29	chr1:95542401-95542451	HCT-116	colon:	n/a
30	chr1:95542401-95542451	U87	brain:	n/a
31	chr1:95542401-95542451	AG04449	skin:	fetal
32	chr1:95542401-95542451	ovcar-3	ovarian:	n/a
33	chr1:95542401-95542451	SK-N-MC	brain:	n/a
34	chr1:95542401-95542451	HEEpiC	esophagus:	n/a
35	chr1:95542401-95542451	BJ	skin:	n/a
36	chr1:95542401-95542451	HAEpiC	amniotic membrane:	n/a
37	chr1:95542401-95542451	HIPEpiC	eye:	n/a
38	chr1:95542401-95542451	HUVEC	blood vessel:	n/a
39	chr1:95542401-95542451	NB4	blood:	n/a
40	chr1:95542401-95542451	K562	blood:	n/a
41	chr1:95542401-95542451	LNCaP	prostate:	n/a
42	chr1:95542401-95542451	SKMC	muscle:	n/a
43	chr1:95542401-95542451	HNPCEpiC	eye:	n/a
44	chr1:95542401-95542451	NT2-D1	testis:	n/a
45	chr1:95542401-95542451	Hepatocyte	liver:	n/a
46	chr1:95542401-95542451	NHBE	bronchial:	n/a
47	chr1:95542401-95542451	GM06990	blood:	n/a
48	chr1:95542401-95542451	HCM	heart:	n/a
49	chr1:95542401-95542451	ECC-1	luminal epithelium:	n/a
50	chr1:95542401-95542451	GM12891	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95539591..95541319-chr1:95541795..95543723,2	K562	blood:
2	chr1:95534244..95536738-chr1:95541895..95543899,2	K562	blood:
3	chr1:95537638..95539562-chr1:95542128..95544518,2	MCF-7	breast:
4	chr1:95542549..95544382-chr1:95554227..95556548,2	K562	blood:

No data

Variant related genes	Relation type
ALG14	CpG island
ENSG00000172339	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369056925	chr1:95542134-95542135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536503978	chr1:95542188-95542189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs541380578	chr1:95542227-95542228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9437685	chr1:95542228-95542229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs12738509	chr1:95542291-95542292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564243543	chr1:95542304-95542305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544350888	chr1:95542305-95542306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs57206218	chr1:95542321-95542322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569806357	chr1:95542325-95542326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs34897520	chr1:95542341-95542342	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs181893239	chr1:95542373-95542374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184134398	chr1:95542401-95542402	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372814365	chr1:95542402-95542403	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs188506836	chr1:95542439-95542440	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181281915	chr1:95542449-95542450	Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554993591	chr1:95542452-95542453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs574896026	chr1:95542487-95542488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs377254764	chr1:95542496-95542497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370775181	chr1:95542508-95542509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10610414	chr1:95542540-95542541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372417551	chr1:95542557-95542558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563840671	chr1:95542563-95542564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373162151	chr1:95542585-95542586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185201693	chr1:95542605-95542606	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61774270	chr1:95542613-95542614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190842091	chr1:95542622-95542623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546058084	chr1:95542657-95542658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559566352	chr1:95542663-95542664	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539521329	chr1:95542665-95542666	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6689195	chr1:95542694-95542695	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	17550852	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
Malignant melanoma	17260012	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95539800-95549000	Weak transcription	K562	blood
2	chr1:95542000-95549600	Weak transcription	HepG2	liver

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