Variant report

Variant	nsv872722
Chromosome Location	chr1:189627183-189678231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:602)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:189655218-189655237	K562	blood:	n/a	n/a
2	ATF1	chr1:189645110-189645131	K562	blood:	n/a	n/a
3	BACH1	chr1:189660033-189660067	K562	blood:	n/a	n/a
4	BCL3	chr1:189650561-189651101	A549	lung:	n/a	n/a
5	BRCA1	chr1:189640354-189640407	H1-hESC	embryonic stem cell:	n/a	n/a
6	CBX3	chr1:189627431-189627982	HCT-116	colon:	n/a	n/a
7	CBX3	chr1:189631288-189631734	HCT-116	colon:	n/a	n/a
8	CBX3	chr1:189631264-189631803	HCT-116	colon:	n/a	n/a
9	CBX3	chr1:189626762-189627309	HCT-116	colon:	n/a	n/a
10	CEBPB	chr1:189675215-189675438	HepG2	liver:	n/a	chr1:189675255-189675266
11	CEBPB	chr1:189631180-189631818	HCT-116	colon:	n/a	n/a
12	CEBPB	chr1:189626911-189627214	MCF-7	breast:	n/a	n/a
13	CEBPB	chr1:189626703-189627383	HCT-116	colon:	n/a	chr1:189627200-189627217
14	CEBPB	chr1:189646472-189646806	HepG2	liver:	n/a	n/a
15	CEBPB	chr1:189626896-189627281	A549	lung:	n/a	chr1:189627200-189627217
16	CEBPB	chr1:189626898-189627277	HepG2	liver:	n/a	chr1:189627200-189627217
17	CEBPB	chr1:189626830-189627327	MCF-7	breast:	n/a	chr1:189627200-189627217
18	CEBPB	chr1:189626761-189627411	A549	lung:	n/a	chr1:189627200-189627217
19	CEBPB	chr1:189626976-189627210	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:189626892-189627296	A549	lung:	n/a	chr1:189627200-189627217
21	CEBPB	chr1:189627413-189628000	HCT-116	colon:	n/a	n/a
22	CEBPB	chr1:189626736-189627414	HCT-116	colon:	n/a	chr1:189627200-189627217
23	CEBPB	chr1:189651781-189651981	A549	lung:	n/a	n/a
24	CEBPB	chr1:189650548-189650953	A549	lung:	n/a	n/a
25	CEBPB	chr1:189675218-189675345	A549	lung:	n/a	chr1:189675255-189675266
26	CEBPB	chr1:189626895-189627312	Hela-S3	cervix:	n/a	chr1:189627200-189627217
27	CEBPB	chr1:189635284-189635346	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:189672613-189673256	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:189631210-189631769	HCT-116	colon:	n/a	n/a
30	CTCF	chr1:189677821-189678139	MCF-7	breast:	n/a	n/a
31	CTCF	chr1:189662360-189662510	AG04449	skin:	n/a	chr1:189662475-189662488 chr1:189662473-189662491
32	CTCF	chr1:189662540-189662690	A549	lung:	n/a	n/a
33	CTCF	chr1:189677860-189678010	HPAF	blood vessel:	n/a	n/a
34	CTCF	chr1:189677787-189678145	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:189648060-189648210	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:189662440-189662590	HPF	lung:	n/a	chr1:189662475-189662488 chr1:189662473-189662491
37	CTCF	chr1:189647960-189648110	AG04450	lung:	n/a	n/a
38	CTCF	chr1:189677920-189678070	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr1:189648031-189648220	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:189642515-189642587	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:189662400-189662550	HEEpiC	esophagus:	n/a	chr1:189662475-189662488 chr1:189662473-189662491
42	CTCF	chr1:189631480-189631630	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr1:189662380-189662530	BE2_C	brain:	n/a	chr1:189662475-189662488 chr1:189662473-189662491
44	CTCF	chr1:189647920-189648070	HFF	foreskin:	n/a	n/a
45	CTCF	chr1:189648060-189648210	HepG2	liver:	n/a	n/a
46	CTCF	chr1:189631604-189631640	Gliobla	brain:	n/a	n/a
47	CTCF	chr1:189677880-189678030	A549	lung:	n/a	n/a
48	CTCF	chr1:189648011-189648187	Medullo	brain:	n/a	n/a
49	CTCF	chr1:189677760-189677910	HMEC	breast:	n/a	n/a
50	CTCF	chr1:189648060-189648210	HVMF	connective:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
2	chr1:189630297..189631878-chr1:189633078..189635794,2	K562	blood:
3	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
4	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
5	chr1:189398509..189399144-chr1:189660311..189661261,2	MCF-7	breast:
6	chr1:189398408..189399387-chr1:189661985..189662829,2	MCF-7	breast:
7	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
8	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:
9	chr1:189677420..189678491-chr1:190289916..190290952,3	MCF-7	breast:
10	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
11	chr1:189672702..189674835-chr1:189679900..189682761,2	MCF-7	breast:
12	chr1:189646033..189647879-chr5:175874488..175876371,2	MCF-7	breast:
13	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
14	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
15	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5SP73	TF binding region
ENSG00000252553	chromatin interactions
ENSG00000113194	chromatin interactions

Extended variants
information (count: 810 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:810 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs473773	chr1:189627183-189627184	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114100586	chr1:189627251-189627252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555166162	chr1:189627252-189627253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115130080	chr1:189627258-189627259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541248165	chr1:189627307-189627308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7547792	chr1:189627314-189627315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs487498	chr1:189627367-189627368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543676899	chr1:189627409-189627410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs475908	chr1:189627482-189627483	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115128903	chr1:189627520-189627521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116419167	chr1:189627546-189627547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34770992	chr1:189627586-189627587	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188867435	chr1:189627590-189627591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547254287	chr1:189627598-189627599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570625976	chr1:189627651-189627652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs477023	chr1:189627664-189627665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs374746071	chr1:189627668-189627669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376328979	chr1:189627730-189627731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550051325	chr1:189627759-189627760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35868780	chr1:189627785-189627786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569714645	chr1:189627827-189627828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573016027	chr1:189627845-189627846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535093626	chr1:189627852-189627853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs482865	chr1:189627860-189627861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565613791	chr1:189627881-189627882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534684444	chr1:189627912-189627913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114767492	chr1:189627983-189627984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147187873	chr1:189628000-189628001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs501912	chr1:189628010-189628011	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs502019	chr1:189628045-189628046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs138955375	chr1:189628049-189628050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs502044	chr1:189628061-189628062	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs373005861	chr1:189628099-189628100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34362527	chr1:189628161-189628162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559826261	chr1:189628170-189628171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545703963	chr1:189628215-189628216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192079854	chr1:189628270-189628271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114386254	chr1:189628285-189628286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529294661	chr1:189628307-189628308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533158311	chr1:189628326-189628327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560444263	chr1:189628327-189628328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144812034	chr1:189628337-189628338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550138636	chr1:189628356-189628357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184392786	chr1:189628359-189628360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190318834	chr1:189628440-189628441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548722182	chr1:189628463-189628464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571394508	chr1:189628479-189628480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115292927	chr1:189628495-189628496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551018753	chr1:189628500-189628501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74984944	chr1:189628534-189628535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17899364	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
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189626000-189629200	Enhancers	HMEC	breast
2	chr1:189626200-189629400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:189626400-189628200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:189626800-189627200	Flanking Active TSS	A549	lung
5	chr1:189626800-189628800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:189627000-189628000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:189627000-189628000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:189627000-189628000	Enhancers	NHEK	skin
9	chr1:189627200-189628200	Enhancers	A549	lung
10	chr1:189627600-189628000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:189628200-189628600	Weak transcription	A549	lung
12	chr1:189628200-189628800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:189628600-189629200	Enhancers	A549	lung
14	chr1:189628800-189629000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:189629400-189641400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:189636400-189636600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:189639200-189639400	Enhancers	A549	lung
18	chr1:189640400-189640600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:189640800-189641000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:189645000-189645400	Enhancers	Fetal Heart	heart
21	chr1:189649600-189650400	Enhancers	A549	lung
22	chr1:189650200-189651200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:189650400-189650600	Flanking Active TSS	A549	lung
24	chr1:189650400-189651000	Enhancers	HepG2	liver
25	chr1:189650600-189651000	Active TSS	A549	lung
26	chr1:189651200-189651600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:189651600-189652000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:189665400-189666400	Active TSS	Placenta	Placenta
29	chr1:189666400-189666600	Flanking Active TSS	Placenta	Placenta
30	chr1:189675200-189676200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:189678000-189678200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:189678000-189678400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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