Variant report

Variant	nsv1004742
Chromosome Location	chr1:189526599-189652035
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	ARID3A	chr1:189576379-189576601	HepG2	liver:	n/a	n/a
2	ATF1	chr1:189645110-189645131	K562	blood:	n/a	n/a
3	ATF3	chr1:189624065-189624449	HCT-116	colon:	n/a	n/a
4	ATF3	chr1:189576142-189576647	A549	lung:	n/a	n/a
5	BATF	chr1:189565411-189565576	GM12878	blood:	n/a	chr1:189565508-189565518
6	BCL3	chr1:189650561-189651101	A549	lung:	n/a	n/a
7	BCL3	chr1:189575858-189576821	A549	lung:	n/a	n/a
8	BRCA1	chr1:189640354-189640407	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr1:189588843-189589197	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr1:189627431-189627982	HCT-116	colon:	n/a	n/a
11	CBX3	chr1:189631288-189631734	HCT-116	colon:	n/a	n/a
12	CBX3	chr1:189588801-189589528	HCT-116	colon:	n/a	n/a
13	CBX3	chr1:189626762-189627309	HCT-116	colon:	n/a	n/a
14	CBX3	chr1:189588763-189589390	HCT-116	colon:	n/a	n/a
15	CBX3	chr1:189631264-189631803	HCT-116	colon:	n/a	n/a
16	CEBPB	chr1:189606177-189606515	Hela-S3	cervix:	n/a	chr1:189606323-189606334
17	CEBPB	chr1:189624086-189624348	ECC-1	luminal epithelium:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
18	CEBPB	chr1:189592550-189592866	A549	lung:	n/a	chr1:189592697-189592708
19	CEBPB	chr1:189626911-189627214	MCF-7	breast:	n/a	n/a
20	CEBPB	chr1:189623938-189624460	HCT-116	colon:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
21	CEBPB	chr1:189558439-189558729	HepG2	liver:	n/a	chr1:189558577-189558588
22	CEBPB	chr1:189572754-189573023	HepG2	liver:	n/a	chr1:189572877-189572890 chr1:189572878-189572889 chr1:189572877-189572888 chr1:189572879-189572888
23	CEBPB	chr1:189554252-189554543	HepG2	liver:	n/a	chr1:189554394-189554405 chr1:189554393-189554406
24	CEBPB	chr1:189532953-189533311	A549	lung:	n/a	chr1:189533086-189533097
25	CEBPB	chr1:189626976-189627210	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:189624011-189624388	Hela-S3	cervix:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
27	CEBPB	chr1:189532904-189533307	A549	lung:	n/a	chr1:189533086-189533097
28	CEBPB	chr1:189626736-189627414	HCT-116	colon:	n/a	chr1:189627200-189627217
29	CEBPB	chr1:189626898-189627277	HepG2	liver:	n/a	chr1:189627200-189627217
30	CEBPB	chr1:189558470-189558730	IMR90	lung:	n/a	chr1:189558577-189558588
31	CEBPB	chr1:189624053-189624347	H1-hESC	embryonic stem cell:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
32	CEBPB	chr1:189635284-189635346	HepG2	liver:	n/a	n/a
33	CEBPB	chr1:189646472-189646806	HepG2	liver:	n/a	n/a
34	CEBPB	chr1:189624089-189624306	MCF-7	breast:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
35	CEBPB	chr1:189627413-189628000	HCT-116	colon:	n/a	n/a
36	CEBPB	chr1:189624014-189624396	IMR90	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
37	CEBPB	chr1:189572738-189572984	A549	lung:	n/a	chr1:189572877-189572890 chr1:189572878-189572889 chr1:189572877-189572888 chr1:189572879-189572888
38	CEBPB	chr1:189626830-189627327	MCF-7	breast:	n/a	chr1:189627200-189627217
39	CEBPB	chr1:189626761-189627411	A549	lung:	n/a	chr1:189627200-189627217
40	CEBPB	chr1:189623883-189624474	A549	lung:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
41	CEBPB	chr1:189631180-189631818	HCT-116	colon:	n/a	n/a
42	CEBPB	chr1:189626703-189627383	HCT-116	colon:	n/a	chr1:189627200-189627217
43	CEBPB	chr1:189606035-189606521	A549	lung:	n/a	chr1:189606323-189606334
44	CEBPB	chr1:189606174-189606516	A549	lung:	n/a	chr1:189606323-189606334
45	CEBPB	chr1:189606191-189606464	HepG2	liver:	n/a	chr1:189606323-189606334
46	CEBPB	chr1:189592545-189592812	HepG2	liver:	n/a	chr1:189592697-189592708
47	CEBPB	chr1:189565794-189565847	A549	lung:	n/a	n/a
48	CEBPB	chr1:189624035-189624369	K562	blood:	n/a	chr1:189624201-189624212 chr1:189624203-189624214 chr1:189624201-189624214 chr1:189624201-189624214 chr1:189624201-189624214
49	CEBPB	chr1:189606179-189606483	IMR90	lung:	n/a	chr1:189606323-189606334
50	CEBPB	chr1:189576038-189577215	A549	lung:	n/a	chr1:189576923-189576935

No.	Distal block	Cell Line	Cell type
1	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
2	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
3	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
4	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
5	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
6	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
7	chr1:189646033..189647879-chr5:175874488..175876371,2	MCF-7	breast:
8	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
9	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:
10	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
11	chr1:189630297..189631878-chr1:189633078..189635794,2	K562	blood:
12	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
13	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
14	chr1:189627801..189630516-chr1:189640573..189642596,2	MCF-7	breast:
15	chr1:189617058..189619904-chr1:189621793..189623517,2	MCF-7	breast:
16	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
17	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
18	chr1:189627826..189630498-chr1:189636599..189639267,2	MCF-7	breast:
19	chr1:189398440..189399083-chr1:189642226..189643036,4	MCF-7	breast:
20	chr1:189617058..189619904-chr1:189621793..189623517,2	MCF-7	breast:
21	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
22	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
23	chr1:189624367..189627091-chr1:189650312..189652304,2	MCF-7	breast:

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

Extended variants
information (count: 2224 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2224 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371359205	chr1:189552218-189552219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117252348	chr1:189552271-189552272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149730936	chr1:189552310-189552311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532736035	chr1:189552328-189552329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552598689	chr1:189552344-189552345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563155335	chr1:189552372-189552373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531622078	chr1:189552373-189552374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548148699	chr1:189552399-189552400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78001212	chr1:189552403-189552404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190700754	chr1:189552474-189552475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs41512846	chr1:189552536-189552537	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566554571	chr1:189552546-189552547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs445857	chr1:189552579-189552580	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs431889	chr1:189552599-189552600	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116049600	chr1:189552602-189552603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78426794	chr1:189552628-189552629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554641306	chr1:189552648-189552649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574476835	chr1:189552650-189552651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183216565	chr1:189552673-189552674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553782634	chr1:189552704-189552705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74607178	chr1:189552754-189552755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187930307	chr1:189552764-189552765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369940962	chr1:189552769-189552770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74138434	chr1:189552791-189552792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73047495	chr1:189552817-189552818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12042623	chr1:189552847-189552848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7538931	chr1:189552856-189552857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16830864	chr1:189552857-189552858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs400172	chr1:189552871-189552872	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs34391030	chr1:189552921-189552922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547497231	chr1:189552943-189552944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560495564	chr1:189552986-189552987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34332072	chr1:189553022-189553023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs202242901	chr1:189553023-189553024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148490116	chr1:189553052-189553053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184666851	chr1:189553063-189553064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145283898	chr1:189553090-189553091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74565609	chr1:189553099-189553100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369036044	chr1:189553141-189553142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552378980	chr1:189553160-189553161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568944618	chr1:189553177-189553178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372861736	chr1:189555232-189555233	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs375605148	chr1:189555233-189555234	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs12042405	chr1:189555246-189555247	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs141962381	chr1:189555257-189555258	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs143653314	chr1:189555264-189555265	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs550143474	chr1:189555268-189555269	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs61818929	chr1:189555272-189555273	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs558441798	chr1:189555274-189555275	Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs201175930	chr1:189555275-189555276	Flanking Bivalent TSS/Enh	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:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189552200-189553200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:189555200-189555400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:189565200-189566800	Enhancers	HUVEC	blood vessel
4	chr1:189566400-189566800	Active TSS	A549	lung
5	chr1:189574200-189575400	Enhancers	A549	lung
6	chr1:189574200-189576600	Enhancers	Hela-S3	cervix
7	chr1:189574200-189577200	Enhancers	HMEC	breast
8	chr1:189574400-189574600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:189574800-189575800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:189575200-189575600	Enhancers	Fetal Brain Male	brain
11	chr1:189575400-189576200	Flanking Active TSS	A549	lung
12	chr1:189575800-189576800	Enhancers	NH-A	brain
13	chr1:189575800-189578800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:189576000-189576800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:189576200-189576400	Active TSS	A549	lung
16	chr1:189576400-189576600	Flanking Active TSS	A549	lung
17	chr1:189576600-189576800	Active TSS	A549	lung
18	chr1:189576600-189577000	Enhancers	Osteobl	bone
19	chr1:189576800-189577400	Flanking Active TSS	A549	lung
20	chr1:189577400-189578200	Enhancers	A549	lung
21	chr1:189578000-189578600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:189578000-189578800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:189578200-189578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:189578200-189578600	Genic enhancers	A549	lung
25	chr1:189578600-189585000	Weak transcription	A549	lung
26	chr1:189585000-189587000	Enhancers	A549	lung
27	chr1:189585600-189587000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:189586000-189586400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:189586000-189586400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:189586000-189586400	Enhancers	HMEC	breast
31	chr1:189586000-189586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:189586400-189588800	Weak transcription	HMEC	breast
33	chr1:189586400-189589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:189586600-189588600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:189587000-189588200	Weak transcription	A549	lung
36	chr1:189587000-189588600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr1:189588200-189588800	Enhancers	A549	lung
38	chr1:189588600-189589600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr1:189588600-189589600	Enhancers	HUVEC	blood vessel
40	chr1:189588600-189589800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr1:189588800-189589000	Active TSS	A549	lung
42	chr1:189588800-189589400	Enhancers	NHEK	skin
43	chr1:189588800-189589800	Enhancers	HMEC	breast
44	chr1:189589000-189589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:189589000-189589400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:189589000-189589400	Flanking Active TSS	A549	lung
47	chr1:189589000-189589400	Enhancers	Hela-S3	cervix
48	chr1:189589000-189589400	Enhancers	NH-A	brain
49	chr1:189589000-189589400	Enhancers	Osteobl	bone
50	chr1:189589400-189589800	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links