Variant report

Variant	nsv546899
Chromosome Location	chr1:102276143-102304094
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	CTCF	chr1:102285720-102285870	GM12871	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
2	CTCF	chr1:102285720-102285870	AG04450	lung:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
3	CTCF	chr1:102285754-102285902	GM13976	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
4	CTCF	chr1:102285719-102285916	SK-N-SH_RA	brain:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
5	CTCF	chr1:102285740-102285890	HCM	heart:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
6	CTCF	chr1:102285741-102285927	Lung_OC	lung:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
7	CTCF	chr1:102285735-102285929	MCF-7	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
8	CTCF	chr1:102285745-102285895	GM13977	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
9	CTCF	chr1:102293532-102293604	MCF-7	breast:	n/a	n/a
10	CTCF	chr1:102285725-102285947	LNCaP	prostate:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
11	CTCF	chr1:102285720-102285870	HEK293	kidney:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
12	CTCF	chr1:102285760-102285910	BE2_C	brain:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
13	CTCF	chr1:102285740-102285890	SAEC	small airway:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
14	CTCF	chr1:102285707-102285926	T-47D	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
15	CTCF	chr1:102285780-102285930	BE2_C	brain:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
16	CTCF	chr1:102285709-102285952	Pancreas_OC	pancreas:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
17	CTCF	chr1:102285820-102285970	HAc	cerebellar:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
18	CTCF	chr1:102285724-102285930	LNCaP	prostate:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
19	CTCF	chr1:102285780-102285930	GM12875	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
20	CTCF	chr1:102285763-102285879	GM10266	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
21	CTCF	chr1:102285760-102285910	HMF	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
22	CTCF	chr1:102285760-102285910	HRE	kidney:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
23	CTCF	chr1:102285700-102285850	GM12870	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
24	CTCF	chr1:102285683-102285976	IMR90	lung:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
25	CTCF	chr1:102285807-102285880	Kidney_OC	kidney:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
26	CTCF	chr1:102285720-102285870	GM06990	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
27	CTCF	chr1:102285800-102285950	HVMF	connective:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
28	CTCF	chr1:102285780-102285930	AG04449	skin:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
29	CTCF	chr1:102285740-102285890	NHEK	skin:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
30	CTCF	chr1:102285751-102285901	Gliobla	brain:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
31	CTCF	chr1:102285780-102285930	HBMEC	blood vessel:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
32	CTCF	chr1:102285740-102285890	HMF	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
33	CTCF	chr1:102285720-102285870	NB4	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
34	CTCF	chr1:102285660-102285810	HA-sp	spinal cord:	n/a	n/a
35	CTCF	chr1:102285760-102285910	GM12872	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
36	CTCF	chr1:102285720-102285870	HEEpiC	esophagus:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
37	CTCF	chr1:102285740-102285890	HEEpiC	esophagus:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
38	CTCF	chr1:102285680-102285830	HAc	cerebellar:	n/a	n/a
39	CTCF	chr1:102285755-102285905	MCF-7	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
40	CTCF	chr1:102293503-102293666	ProgFib	skin:	n/a	n/a
41	CTCF	chr1:102285800-102285950	RPTEC	kidney:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
42	CTCF	chr1:102285720-102285870	GM12865	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
43	CTCF	chr1:102285438-102286159	SK-N-SH	brain:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
44	CTCF	chr1:102285740-102285890	HPAF	blood vessel:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
45	CTCF	chr1:102285780-102285930	SAEC	small airway:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
46	CTCF	chr1:102285760-102285910	HCFaa	heart:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
47	CTCF	chr1:102285720-102285870	GM12874	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
48	CTCF	chr1:102285760-102285910	NHLF	lung:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
49	CTCF	chr1:102285700-102285850	HL-60	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
50	CTCF	chr1:102285740-102285890	AG09319	gingival:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:102285335..102286320-chr1:102656866..102657699,4	MCF-7	breast:
2	chr1:102118967..102119744-chr1:102285327..102286064,2	MCF-7	breast:

Variant related genes	Relation type
OLFM3	TF binding region

Extended variants
information (count: 1123 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1123 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12747374	chr1:102276143-102276144	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533330063	chr1:102276184-102276185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182980884	chr1:102276277-102276278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1327591	chr1:102276334-102276335	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145152355	chr1:102276399-102276400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563727336	chr1:102276424-102276425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187560138	chr1:102276447-102276448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1327590	chr1:102276470-102276471	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs556425354	chr1:102276492-102276493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574688176	chr1:102276495-102276496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541996787	chr1:102276539-102276540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369579723	chr1:102276589-102276590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12084662	chr1:102276600-102276601	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190287647	chr1:102276602-102276603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545912074	chr1:102276665-102276666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564102485	chr1:102276673-102276674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531602165	chr1:102276707-102276708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371733335	chr1:102276722-102276723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549956539	chr1:102276723-102276724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77546134	chr1:102276775-102276776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115194458	chr1:102276810-102276811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs56711696	chr1:102276818-102276819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12084765	chr1:102276820-102276821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545267115	chr1:102276855-102276856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538015196	chr1:102276863-102276864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533837743	chr1:102276910-102276911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558695454	chr1:102276943-102276944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570414587	chr1:102276946-102276947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537843911	chr1:102276962-102276963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76794474	chr1:102276971-102276972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182371201	chr1:102277058-102277059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187403278	chr1:102277061-102277062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12048142	chr1:102277063-102277064	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs374845677	chr1:102277064-102277065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377183036	chr1:102277078-102277079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553519927	chr1:102277102-102277103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571922860	chr1:102277123-102277124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546864024	chr1:102277143-102277144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545848715	chr1:102277197-102277198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191941761	chr1:102277213-102277214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576503029	chr1:102277273-102277274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185085062	chr1:102277318-102277319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565354094	chr1:102277325-102277326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529563629	chr1:102277334-102277335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538999032	chr1:102277335-102277336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12075849	chr1:102277344-102277345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533568879	chr1:102277358-102277359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557326122	chr1:102277364-102277365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12096280	chr1:102277381-102277382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537576892	chr1:102277420-102277421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	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
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Lung cancer	17086460	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102268400-102311200	Weak transcription	Fetal Intestine Large	intestine
2	chr1:102274000-102277000	Enhancers	Dnd41	blood
3	chr1:102277000-102278000	Weak transcription	Dnd41	blood
4	chr1:102278000-102278200	Enhancers	Dnd41	blood
5	chr1:102282400-102283600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:102288200-102309200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:102294400-102311200	Weak transcription	Fetal Intestine Small	intestine
8	chr1:102298800-102299200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links