Variant report

Variant	nsv946552
Chromosome Location	chr1:193724187-193731349
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	chr1:193724280-193724430	HEEpiC	esophagus:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
2	CTCF	chr1:193724260-193724410	HVMF	connective:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
3	CTCF	chr1:193724320-193724470	BE2_C	brain:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
4	CTCF	chr1:193724280-193724430	BJ	skin:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
5	CTCF	chr1:193724300-193724450	AoAF	blood vessel:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
6	CTCF	chr1:193724240-193724390	AoAF	blood vessel:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
7	CTCF	chr1:193724280-193724430	AG04449	skin:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
8	CTCF	chr1:193724300-193724450	NB4	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
9	CTCF	chr1:193724200-193724350	HFF	foreskin:	n/a	n/a
10	CTCF	chr1:193724280-193724430	SK-N-SH_RA	brain:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
11	CTCF	chr1:193724280-193724430	AG10803	skin:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
12	CTCF	chr1:193724280-193724430	HCPEpiC	choroid plexus:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
13	CTCF	chr1:193724340-193724490	HMEC	breast:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
14	CTCF	chr1:193724320-193724470	HUVEC	blood vessel:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
15	CTCF	chr1:193724249-193724467	Spleen_OC	spleen:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
16	CTCF	chr1:193724360-193724510	RPTEC	kidney:	n/a	n/a
17	CTCF	chr1:193724240-193724390	HFF-Myc	foreskin:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
18	CTCF	chr1:193724280-193724430	HEK293	kidney:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
19	CTCF	chr1:193724340-193724490	BJ	skin:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
20	CTCF	chr1:193724300-193724450	HEEpiC	esophagus:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
21	CTCF	chr1:193724240-193724390	SAEC	small airway:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
22	CTCF	chr1:193724380-193724530	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr1:193724140-193724290	HCM	heart:	n/a	n/a
24	CTCF	chr1:193724280-193724430	NHEK	skin:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
25	CTCF	chr1:193724260-193724410	GM12872	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
26	CTCF	chr1:193724277-193724464	LNCaP	prostate:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
27	CTCF	chr1:193724192-193724522	IMR90	lung:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
28	CTCF	chr1:193724260-193724410	HPAF	blood vessel:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
29	CTCF	chr1:193724280-193724430	Caco-2	colon:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
30	CTCF	chr1:193724329-193724415	Lung_OC	lung:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
31	CTCF	chr1:193724292-193724394	Kidney_OC	kidney:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
32	CTCF	chr1:193724220-193724370	GM12865	blood:	n/a	n/a
33	CTCF	chr1:193724293-193724448	LNCaP	prostate:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
34	CTCF	chr1:193724326-193724427	GM13977	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
35	CTCF	chr1:193724294-193724391	Gliobla	brain:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
36	CTCF	chr1:193724320-193724470	HBMEC	blood vessel:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
37	CTCF	chr1:193724060-193724350	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr1:193724280-193724430	HPF	lung:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
39	CTCF	chr1:193724300-193724450	GM12869	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
40	CTCF	chr1:193724220-193724370	HRE	kidney:	n/a	n/a
41	CTCF	chr1:193724320-193724470	GM12864	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
42	CTCF	chr1:193724320-193724470	HMF	breast:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
43	CTCF	chr1:193724209-193724490	GM12878	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
44	CTCF	chr1:193724277-193724450	GM12878	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
45	CTCF	chr1:193724280-193724430	GM12872	blood:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
46	CTCF	chr1:193724280-193724430	MCF-7	breast:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
47	CTCF	chr1:193724171-193724502	H1-hESC	embryonic stem cell:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
48	CTCF	chr1:193724311-193724404	SK-N-SH_RA	brain:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
49	CTCF	chr1:193724240-193724390	HVMF	connective:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373
50	CTCF	chr1:193724260-193724410	AG04450	lung:	n/a	chr1:193724359-193724372 chr1:193724357-193724375 chr1:193724352-193724373

No.	Distal block	Cell Line	Cell type
1	chr1:193728373..193730698-chr1:193736583..193739356,2	K562	blood:
2	chr1:193723167..193725389-chr1:193725651..193727623,2	MCF-7	breast:
3	chr1:193576779..193577361-chr1:193723828..193724666,2	MCF-7	breast:
4	chr1:193375633..193376607-chr1:193723998..193724709,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-B3GALT2-3	chr1:193725945-193726397	NONHSAT008575

Variant related genes	Relation type
RPL23AP22	TF binding region
ENSG00000237213	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536172065	chr1:193724187-193724188	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs193163836	chr1:193724199-193724200	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs55797002	chr1:193724263-193724264	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576238209	chr1:193724297-193724298	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs61830947	chr1:193724309-193724310	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139271724	chr1:193724336-193724337	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs202147181	chr1:193724349-193724350	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556222016	chr1:193724373-193724374	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs370839821	chr1:193724403-193724404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536489355	chr1:193724477-193724478	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2148556	chr1:193724487-193724488	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184598658	chr1:193724500-193724501	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs189922423	chr1:193724503-193724504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12058279	chr1:193724529-193724530	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs572203492	chr1:193724531-193724532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541229106	chr1:193724562-193724563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs77472647	chr1:193724578-193724579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577898673	chr1:193724582-193724583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12117260	chr1:193724621-193724622	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560539995	chr1:193724638-193724639	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563236858	chr1:193724650-193724651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548752029	chr1:193724687-193724688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542218766	chr1:193724701-193724702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570287414	chr1:193724705-193724706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564341048	chr1:193724706-193724707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs12057172	chr1:193724708-193724709	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547600141	chr1:193724804-193724805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549294332	chr1:193724812-193724813	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368501908	chr1:193724840-193724841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549909074	chr1:193724845-193724846	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs8179442	chr1:193724954-193724955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs149977648	chr1:193724974-193724975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372152050	chr1:193725004-193725005	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561653318	chr1:193725011-193725012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535849675	chr1:193725030-193725031	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs8179372	chr1:193725046-193725047	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181363502	chr1:193725047-193725048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375553155	chr1:193725104-193725105	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71730146	chr1:193725111-193725112	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs574548770	chr1:193725114-193725115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs76923224	chr1:193725116-193725117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs58222359	chr1:193725117-193725118	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531880222	chr1:193725121-193725122	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183572786	chr1:193725155-193725156	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs145644567	chr1:193725170-193725171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200406827	chr1:193725192-193725193	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549405914	chr1:193725238-193725239	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs71136350	chr1:193725252-193725253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532099972	chr1:193725258-193725259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547436673	chr1:193725286-193725287	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193724000-193724400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr1:193730200-193730400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:193730200-193730400	Enhancers	Fetal Lung	lung
4	chr1:193730400-193731400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:193731200-193733600	Enhancers	Fetal Heart	heart

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