Variant report

Variant	nsv546898
Chromosome Location	chr1:102274276-102304152
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	chr1:102285760-102285910	GM12872	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
2	CTCF	chr1:102285724-102285930	LNCaP	prostate:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
3	CTCF	chr1:102285660-102285810	HMEC	breast:	n/a	n/a
4	CTCF	chr1:102285780-102285930	MCF-7	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
5	CTCF	chr1:102285760-102285910	HMF	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
6	CTCF	chr1:102293540-102293620	Spleen_OC	spleen:	n/a	n/a
7	CTCF	chr1:102285660-102285810	HA-sp	spinal cord:	n/a	n/a
8	CTCF	chr1:102285722-102285936	GM12878	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
9	CTCF	chr1:102285800-102285950	GM12874	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
10	CTCF	chr1:102285754-102285902	GM13976	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
11	CTCF	chr1:102285740-102285890	Caco-2	colon:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
12	CTCF	chr1:102285805-102285893	A549	lung:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
13	CTCF	chr1:102285740-102285890	AG09319	gingival:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
14	CTCF	chr1:102285680-102285830	NHEK	skin:	n/a	n/a
15	CTCF	chr1:102293532-102293604	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:102285780-102285930	GM12866	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
17	CTCF	chr1:102285680-102285830	HAc	cerebellar:	n/a	n/a
18	CTCF	chr1:102285780-102285930	AG04449	skin:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
19	CTCF	chr1:102285900-102286050	A549	lung:	n/a	n/a
20	CTCF	chr1:102285780-102285930	HBMEC	blood vessel:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
21	CTCF	chr1:102285680-102285830	AG10803	skin:	n/a	n/a
22	CTCF	chr1:102285740-102285890	NHEK	skin:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
23	CTCF	chr1:102285780-102285930	HCPEpiC	choroid plexus:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
24	CTCF	chr1:102285760-102285910	HCFaa	heart:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
25	CTCF	chr1:102285751-102285901	Gliobla	brain:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
26	CTCF	chr1:102285590-102285927	H1-hESC	embryonic stem cell:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
27	CTCF	chr1:102285800-102285950	HBMEC	blood vessel:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
28	CTCF	chr1:102285820-102285970	GM12864	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
29	CTCF	chr1:102285760-102285910	GM12864	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
30	CTCF	chr1:102285700-102285850	GM12871	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
31	CTCF	chr1:102285720-102285870	HEEpiC	esophagus:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
32	CTCF	chr1:102285726-102285900	A549	lung:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
33	CTCF	chr1:102285740-102285890	HPAF	blood vessel:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
34	CTCF	chr1:102285740-102285890	HRPEpiC	eye:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
35	CTCF	chr1:102285760-102285910	HMEC	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
36	CTCF	chr1:102285725-102285947	LNCaP	prostate:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
37	CTCF	chr1:102285720-102285870	AG04450	lung:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
38	CTCF	chr1:102285820-102285970	HAc	cerebellar:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
39	CTCF	chr1:102285640-102286017	GM12878	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
40	CTCF	chr1:102285707-102285926	T-47D	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
41	CTCF	chr1:102285720-102285870	GM12873	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
42	CTCF	chr1:102285760-102285910	HRE	kidney:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
43	CTCF	chr1:102285740-102285890	RPTEC	kidney:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
44	CTCF	chr1:102285689-102285957	Medullo	brain:	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	chr1:102285700-102285850	GM12870	blood:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
47	CTCF	chr1:102285735-102285929	MCF-7	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
48	CTCF	chr1:102285712-102286038	MCF-7	breast:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
49	CTCF	chr1:102285705-102285971	H1-hESC	embryonic stem cell:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837
50	CTCF	chr1:102285646-102285972	ECC-1	luminal epithelium:	n/a	chr1:102285825-102285833 chr1:102285822-102285843 chr1:102285820-102285838 chr1:102285821-102285837

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

Variant related genes	Relation type
OLFM3	TF binding region

Extended variants
information (count: 1188 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1188 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1854169	chr1:102274276-102274277	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534157657	chr1:102274322-102274323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558717726	chr1:102274326-102274327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577165468	chr1:102274350-102274351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538154372	chr1:102274352-102274353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372606207	chr1:102274410-102274411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556400503	chr1:102274422-102274423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368880202	chr1:102274471-102274472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1327592	chr1:102274494-102274495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533493541	chr1:102274515-102274516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57891702	chr1:102274575-102274576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542582838	chr1:102274626-102274627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560851884	chr1:102274630-102274631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572882300	chr1:102274635-102274636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540478355	chr1:102274644-102274645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375356684	chr1:102274760-102274761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543094703	chr1:102274797-102274798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551876475	chr1:102274802-102274803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112817519	chr1:102274831-102274832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148192813	chr1:102274856-102274857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570278293	chr1:102274918-102274919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72985908	chr1:102274975-102274976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550909001	chr1:102274980-102274981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186114607	chr1:102274995-102274996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537209166	chr1:102275012-102275013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548547358	chr1:102275020-102275021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs724479	chr1:102275057-102275058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560517933	chr1:102275061-102275062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141125637	chr1:102275118-102275119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567911644	chr1:102275151-102275152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190485960	chr1:102275178-102275179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs724480	chr1:102275190-102275191	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368203114	chr1:102275220-102275221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556604414	chr1:102275231-102275232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181977945	chr1:102275237-102275238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535906242	chr1:102275286-102275287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs141269065	chr1:102275313-102275314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187269813	chr1:102275315-102275316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370678099	chr1:102275379-102275380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572827870	chr1:102275425-102275426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6678257	chr1:102275433-102275434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571687923	chr1:102275440-102275441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577133353	chr1:102275449-102275450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17125467	chr1:102275480-102275481	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs147354566	chr1:102275517-102275518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562772516	chr1:102275598-102275599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545517187	chr1:102275599-102275600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529992779	chr1:102275615-102275616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557398445	chr1:102275618-102275619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114610823	chr1:102275716-102275717	Weak transcription Enhancers	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:9 , 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	chr1:102275000-102275600	Enhancers	Fetal Stomach	stomach
4	chr1:102277000-102278000	Weak transcription	Dnd41	blood
5	chr1:102278000-102278200	Enhancers	Dnd41	blood
6	chr1:102282400-102283600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:102288200-102309200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:102294400-102311200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:102298800-102299200	Enhancers	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links