Variant report

Variant	nsv945725
Chromosome Location	chr1:47416844-47436380
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	CEBPB	chr1:47424621-47424813	HepG2	liver:	n/a	chr1:47424681-47424692
2	CEBPB	chr1:47426647-47426872	HepG2	liver:	n/a	chr1:47426704-47426715 chr1:47426706-47426717 chr1:47426706-47426715
3	CEBPB	chr1:47424651-47424710	H1-hESC	embryonic stem cell:	n/a	chr1:47424681-47424692
4	CEBPB	chr1:47426686-47426777	K562	blood:	n/a	chr1:47426704-47426715 chr1:47426706-47426717 chr1:47426706-47426715
5	CTCF	chr1:47434960-47435110	NHEK	skin:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
6	CTCF	chr1:47435041-47435172	NHEK	skin:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
7	CTCF	chr1:47434800-47434950	WERI-Rb-1	eye:	n/a	n/a
8	CTCF	chr1:47434980-47435130	HPAF	blood vessel:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
9	CTCF	chr1:47434980-47435130	SK-N-SH_RA	brain:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
10	CTCF	chr1:47434960-47435110	GM12878	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
11	CTCF	chr1:47434960-47435110	GM12873	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
12	CTCF	chr1:47435040-47435190	GM12865	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
13	CTCF	chr1:47435000-47435150	GM12875	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
14	CTCF	chr1:47435080-47435230	HA-sp	spinal cord:	n/a	chr1:47435084-47435092
15	CTCF	chr1:47435011-47435164	HepG2	liver:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
16	CTCF	chr1:47434980-47435130	K562	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
17	CTCF	chr1:47434960-47435110	GM12874	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
18	CTCF	chr1:47434903-47435252	H1-hESC	embryonic stem cell:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
19	CTCF	chr1:47434900-47435050	GM12864	blood:	n/a	n/a
20	CTCF	chr1:47435006-47435173	LNCaP	prostate:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
21	CTCF	chr1:47435020-47435170	SK-N-SH_RA	brain:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
22	CTCF	chr1:47435020-47435170	NB4	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
23	CTCF	chr1:47435040-47435190	HepG2	liver:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
24	CTCF	chr1:47435080-47435230	HL-60	blood:	n/a	chr1:47435084-47435092
25	CTCF	chr1:47435040-47435190	HEK293	kidney:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
26	CTCF	chr1:47434897-47435231	HepG2	liver:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
27	CTCF	chr1:47435060-47435210	GM12872	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
28	CTCF	chr1:47435043-47435147	Pancreas_OC	pancreas:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
29	CTCF	chr1:47434990-47435193	Kidney_OC	kidney:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
30	CTCF	chr1:47435020-47435170	MCF-7	breast:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
31	CTCF	chr1:47435020-47435170	HCT-116	colon:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
32	CTCF	chr1:47435040-47435190	GM12872	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
33	CTCF	chr1:47435020-47435170	HMF	breast:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
34	CTCF	chr1:47435002-47435182	LNCaP	prostate:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
35	CTCF	chr1:47435020-47435170	HCPEpiC	choroid plexus:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
36	CTCF	chr1:47434940-47435090	BE2_C	brain:	n/a	n/a
37	CTCF	chr1:47434933-47435220	K562	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
38	CTCF	chr1:47435020-47435170	Hela-S3	cervix:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
39	CTCF	chr1:47435020-47435170	NHEK	skin:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
40	CTCF	chr1:47434960-47435110	GM12865	blood:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
41	CTCF	chr1:47435020-47435170	HCFaa	heart:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
42	CTCF	chr1:47433260-47433510	GM12875	blood:	n/a	n/a
43	CTCF	chr1:47434892-47435239	MCF-7	breast:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
44	CTCF	chr1:47435029-47435165	Gliobla	brain:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
45	CTCF	chr1:47435080-47435230	GM06990	blood:	n/a	chr1:47435084-47435092
46	CTCF	chr1:47435000-47435150	RPTEC	kidney:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
47	CTCF	chr1:47434760-47434910	GM12865	blood:	n/a	n/a
48	CTCF	chr1:47435000-47435150	MCF-7	breast:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
49	CTCF	chr1:47435008-47435193	MCF-7	breast:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092
50	CTCF	chr1:47435000-47435150	HPAF	blood vessel:	n/a	chr1:47435074-47435095 chr1:47435079-47435097 chr1:47435084-47435092

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CYP4A11-1	chr1:47417449-47417530	NONHSAT003042
2	lnc-CYP4X1-1	chr1:47417509-47417697	NONHSAT003043
3	lnc-CYP4X1-1	chr1:47418127-47418416	NONHSAT003043

Variant related genes	Relation type
CYP4A26P	TF binding region
CYP4X1	TF binding region

Extended variants
information (count: 622 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563668017	chr1:47416844-47416845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570458792	chr1:47416864-47416865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144649098	chr1:47416881-47416882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35584235	chr1:47416918-47416919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191074860	chr1:47416933-47416934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568288125	chr1:47416962-47416963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376798893	chr1:47417049-47417050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148714485	chr1:47417067-47417068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114382028	chr1:47417104-47417105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141392794	chr1:47417166-47417167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180683752	chr1:47417196-47417197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57627915	chr1:47417245-47417246	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576020187	chr1:47417265-47417266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559650419	chr1:47417315-47417316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537384753	chr1:47417339-47417340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555619142	chr1:47417349-47417350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528278805	chr1:47417356-47417357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78670432	chr1:47417375-47417376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10890429	chr1:47417393-47417394	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543673293	chr1:47417433-47417434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76179037	chr1:47417445-47417446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555333003	chr1:47417538-47417539	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs146302382	chr1:47417553-47417554	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs115639449	chr1:47417574-47417575	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs564103194	chr1:47417577-47417578	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs531308808	chr1:47417620-47417621	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs550118274	chr1:47417649-47417650	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs561797430	chr1:47417658-47417659	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs201933555	chr1:47417664-47417665	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs370050358	chr1:47417676-47417677	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs547231782	chr1:47417704-47417705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571295824	chr1:47417710-47417711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185502405	chr1:47417760-47417761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114518543	chr1:47417798-47417799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551446805	chr1:47417839-47417840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11211409	chr1:47417852-47417853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs190213249	chr1:47417868-47417869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555655987	chr1:47417869-47417870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377558955	chr1:47417882-47417883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139591225	chr1:47417917-47417918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535323189	chr1:47417920-47417921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10890430	chr1:47417928-47417929	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs202068498	chr1:47417964-47417965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183416832	chr1:47418016-47418017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545940319	chr1:47418040-47418041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139542619	chr1:47418049-47418050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201436526	chr1:47418052-47418053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60972673	chr1:47418058-47418059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74396391	chr1:47418079-47418080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191736018	chr1:47418089-47418090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	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
Melanoma	17363583	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
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47411800-47417600	Enhancers	Liver	Liver
2	chr1:47413800-47424400	Weak transcription	Adipose Nuclei	Adipose
3	chr1:47415000-47421000	Weak transcription	Fetal Intestine Large	intestine
4	chr1:47415800-47417800	Weak transcription	Fetal Intestine Small	intestine
5	chr1:47415800-47426800	Weak transcription	Pancreas	Pancrea
6	chr1:47416400-47417000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:47416600-47420600	Weak transcription	Stomach Mucosa	stomach
8	chr1:47417000-47418200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:47417600-47418000	Weak transcription	Liver	Liver
10	chr1:47417800-47422000	Enhancers	Fetal Intestine Small	intestine
11	chr1:47418000-47419800	Enhancers	Liver	Liver
12	chr1:47418200-47418400	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:47418400-47420600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:47419400-47420000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:47420600-47421400	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:47420600-47421600	Enhancers	Stomach Mucosa	stomach
17	chr1:47421000-47421600	Enhancers	Fetal Intestine Large	intestine
18	chr1:47421400-47426800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:47421600-47425600	Weak transcription	Stomach Mucosa	stomach
20	chr1:47425600-47427600	Enhancers	Stomach Mucosa	stomach
21	chr1:47426200-47428400	Enhancers	Liver	Liver
22	chr1:47426800-47427000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:47426800-47427600	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:47426800-47427800	Enhancers	Fetal Intestine Small	intestine
25	chr1:47426800-47428000	Enhancers	Pancreas	Pancrea
26	chr1:47427000-47427600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:47427400-47427800	Enhancers	Fetal Intestine Large	intestine
28	chr1:47430400-47433200	Weak transcription	Spleen	Spleen
29	chr1:47431200-47432000	Enhancers	Esophagus	oesophagus
30	chr1:47431600-47432000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:47433200-47433400	Enhancers	Spleen	Spleen
32	chr1:47434200-47434800	Enhancers	Liver	Liver
33	chr1:47434800-47435200	Flanking Active TSS	Liver	Liver
34	chr1:47435200-47435600	Enhancers	Liver	Liver

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