Variant report

Variant	nsv872767
Chromosome Location	chr1:190533711-190664289
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	ATF1	chr1:190614659-190614790	K562	blood:	n/a	n/a
2	ATF1	chr1:190571653-190571718	K562	blood:	n/a	n/a
3	ATF1	chr1:190566680-190566740	K562	blood:	n/a	n/a
4	ATF1	chr1:190552288-190552340	K562	blood:	n/a	n/a
5	ATF1	chr1:190628206-190628341	K562	blood:	n/a	n/a
6	BATF	chr1:190633122-190633368	GM12878	blood:	n/a	chr1:190633226-190633237
7	BRCA1	chr1:190648299-190649696	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr1:190582169-190582256	HepG2	liver:	n/a	chr1:190582214-190582225
9	CEBPB	chr1:190648208-190649520	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr1:190637060-190637483	HepG2	liver:	n/a	chr1:190637295-190637306
11	CEBPB	chr1:190543268-190543550	IMR90	lung:	n/a	n/a
12	CEBPB	chr1:190582097-190582370	IMR90	lung:	n/a	chr1:190582346-190582358 chr1:190582214-190582225
13	CEBPB	chr1:190568838-190569192	A549	lung:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
14	CEBPB	chr1:190579596-190579906	HepG2	liver:	n/a	chr1:190579718-190579729
15	CEBPB	chr1:190637107-190637444	MCF-7	breast:	n/a	chr1:190637295-190637306
16	CEBPB	chr1:190553018-190553336	K562	blood:	n/a	chr1:190553198-190553209
17	CEBPB	chr1:190637250-190637383	HepG2	liver:	n/a	chr1:190637295-190637306
18	CEBPB	chr1:190568949-190569137	H1-hESC	embryonic stem cell:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
19	CEBPB	chr1:190586705-190586925	HepG2	liver:	n/a	chr1:190586814-190586825
20	CEBPB	chr1:190568914-190569180	K562	blood:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
21	CEBPB	chr1:190543299-190543550	A549	lung:	n/a	n/a
22	CEBPB	chr1:190568850-190569199	MCF-7	breast:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
23	CEBPB	chr1:190586704-190586903	K562	blood:	n/a	chr1:190586814-190586825
24	CEBPB	chr1:190568824-190569203	IMR90	lung:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
25	CEBPB	chr1:190568897-190569184	MCF-7	breast:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
26	CEBPB	chr1:190553060-190553315	HepG2	liver:	n/a	chr1:190553198-190553209
27	CEBPB	chr1:190553017-190553326	IMR90	lung:	n/a	chr1:190553198-190553209
28	CEBPB	chr1:190657313-190657597	IMR90	lung:	n/a	n/a
29	CEBPB	chr1:190637105-190637477	Hela-S3	cervix:	n/a	chr1:190637295-190637306
30	CEBPB	chr1:190568822-190569199	HepG2	liver:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
31	CEBPB	chr1:190616321-190616533	HepG2	liver:	n/a	chr1:190616398-190616409
32	CEBPB	chr1:190553039-190553239	H1-hESC	embryonic stem cell:	n/a	chr1:190553198-190553209
33	CEBPB	chr1:190568871-190569173	Hela-S3	cervix:	n/a	chr1:190569091-190569104 chr1:190568999-190569010
34	CTCF	chr1:190585040-190585190	GM12868	blood:	n/a	n/a
35	CTCF	chr1:190602720-190602870	HMEC	breast:	n/a	n/a
36	CTCF	chr1:190585240-190585390	GM12868	blood:	n/a	n/a
37	CTCF	chr1:190623392-190623652	GM12878	blood:	n/a	chr1:190623524-190623540 chr1:190623526-190623534 chr1:190623523-190623541 chr1:190623526-190623539 chr1:190623525-190623546
38	CTCF	chr1:190566353-190566444	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr1:190585043-190585244	MCF-7	breast:	n/a	n/a
40	CTCF	chr1:190585144-190585185	K562	blood:	n/a	n/a
41	CTCF	chr1:190602780-190602930	GM12871	blood:	n/a	n/a
42	CTCF	chr1:190602720-190602870	GM12871	blood:	n/a	n/a
43	CTCF	chr1:190602720-190602870	HPF	lung:	n/a	n/a
44	CTCF	chr1:190585145-190585210	GM10266	blood:	n/a	n/a
45	CTCF	chr1:190602740-190602890	RPTEC	kidney:	n/a	n/a
46	CTCF	chr1:190585098-190585210	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:190585029-190585243	GM12878	blood:	n/a	n/a
48	CTCF	chr1:190585030-190585241	MCF-7	breast:	n/a	n/a
49	CTCF	chr1:190585061-190585226	GM19240	blood:	n/a	n/a
50	CTCF	chr1:190585060-190585210	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:190639004..190639517-chr14:55272079..55272672,2	MCF-7	breast:
2	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:
3	chr1:190562864..190565205-chr1:190568119..190570260,2	K562	blood:
4	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:
5	chr1:190557755..190559589-chr1:190569118..190572044,2	K562	blood:
6	chr1:190555873..190557511-chr1:190571208..190573798,2	K562	blood:
7	chr1:190591206..190593247-chr16:68728532..68731192,2	MCF-7	breast:
8	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:
9	chr1:190557755..190559589-chr1:190569118..190572044,2	K562	blood:
10	chr1:190644661..190646873-chr1:190648441..190650340,2	K562	blood:
11	chr1:190562864..190565205-chr1:190568119..190570260,2	K562	blood:
12	chr1:190526777..190529557-chr1:190543201..190545590,2	K562	blood:
13	chr1:190545473..190547914-chr1:190548224..190550917,3	MCF-7	breast:
14	chr1:190548401..190550417-chr1:190550916..190552589,2	MCF-7	breast:
15	chr1:190555873..190557511-chr1:190571208..190573798,2	K562	blood:
16	chr1:190545473..190547914-chr1:190548224..190550917,3	MCF-7	breast:
17	chr1:190438085..190440650-chr1:190553313..190555425,2	K562	blood:
18	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:
19	chr1:190548401..190550417-chr1:190550916..190552589,2	MCF-7	breast:
20	chr1:190644661..190646873-chr1:190648441..190650340,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-4	chr1:190594020-190594163	ENSG00000231175.1

Variant related genes	Relation type
ENSG00000231175	TF binding region
ENSG00000062038	chromatin interactions

Extended variants
information (count: 1092 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1092 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10920747	chr1:190533711-190533712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1327871	chr1:190533749-190533750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs535434996	chr1:190547200-190547201	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549784161	chr1:190547202-190547203	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547093793	chr1:190547257-190547258	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574608552	chr1:190547287-190547288	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540057278	chr1:190547293-190547294	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559892313	chr1:190547322-190547323	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565728261	chr1:190547350-190547351	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576561469	chr1:190547379-190547380	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535959521	chr1:190547418-190547419	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545492623	chr1:190547430-190547431	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192599496	chr1:190547442-190547443	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531349011	chr1:190547505-190547506	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571271265	chr1:190547566-190547567	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548218584	chr1:190547592-190547593	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs16832474	chr1:190547596-190547597	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199949625	chr1:190547625-190547626	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527957801	chr1:190547656-190547657	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10753950	chr1:190547678-190547679	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571047028	chr1:190547690-190547691	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80241091	chr1:190547738-190547739	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559263990	chr1:190547776-190547777	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570011859	chr1:190547796-190547797	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535854733	chr1:190547820-190547821	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555445471	chr1:190547868-190547869	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12081511	chr1:190547905-190547906	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144734560	chr1:190547928-190547929	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553599384	chr1:190547945-190547946	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576632262	chr1:190547951-190547952	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545555886	chr1:190547981-190547982	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556241567	chr1:190547992-190547993	Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184870387	chr1:190548003-190548004	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541837416	chr1:190548032-190548033	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188082191	chr1:190548080-190548081	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528032778	chr1:190548088-190548089	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538629825	chr1:190548097-190548098	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146760889	chr1:190548098-190548099	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs533575065	chr1:190548114-190548115	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550362824	chr1:190548180-190548181	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535183221	chr1:190548256-190548257	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570153214	chr1:190548303-190548304	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529344817	chr1:190548329-190548330	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6659028	chr1:190548361-190548362	Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs140369788	chr1:190548371-190548372	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192196497	chr1:190548422-190548423	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553661399	chr1:190548434-190548435	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs570382297	chr1:190548439-190548440	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566224088	chr1:190548457-190548458	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs72733070	chr1:190548472-190548473	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
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
Chronic lymphocytic leukemia	22228453	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190533400-190533800	Enhancers	Fetal Heart	heart
2	chr1:190547200-190547400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:190547200-190547800	Active TSS	Brain Substantia Nigra	brain
4	chr1:190547200-190548000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:190547200-190548000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:190547200-190549200	Active TSS	Brain Anterior Caudate	brain
7	chr1:190547400-190547600	Enhancers	Fetal Brain Male	brain
8	chr1:190547400-190547800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:190547400-190547800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:190547400-190548000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:190547400-190548000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:190547400-190548000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:190547400-190548600	Active TSS	Brain Cingulate Gyrus	brain
14	chr1:190547600-190547800	Enhancers	Fetal Heart	heart
15	chr1:190547600-190548000	Active TSS	Brain Angular Gyrus	brain
16	chr1:190547600-190548000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:190547800-190548000	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr1:190547800-190548000	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr1:190547800-190548800	Weak transcription	Fetal Heart	heart
20	chr1:190548000-190548600	Weak transcription	Brain Angular Gyrus	brain
21	chr1:190548000-190548600	Enhancers	Brain Hippocampus Middle	brain
22	chr1:190548000-190548600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:190548000-190548800	Enhancers	Brain Substantia Nigra	brain
24	chr1:190548400-190548600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:190548400-190548600	Enhancers	Dnd41	blood
26	chr1:190548600-190548800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:190548600-190548800	Enhancers	Brain Angular Gyrus	brain
28	chr1:190548600-190548800	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr1:190548600-190549000	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:190548600-190549000	Enhancers	Adipose Nuclei	Adipose
31	chr1:190548600-190549000	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr1:190548600-190549000	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:190548600-190549000	Enhancers	Fetal Intestine Large	intestine
34	chr1:190548600-190549200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:190548600-190549400	Flanking Active TSS	Dnd41	blood
36	chr1:190548600-190549800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr1:190548800-190549000	Active TSS	Brain Cingulate Gyrus	brain
38	chr1:190548800-190549000	Enhancers	Colon Smooth Muscle	Colon
39	chr1:190548800-190549000	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:190548800-190549200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:190548800-190549200	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr1:190548800-190549200	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr1:190548800-190549200	Enhancers	Fetal Heart	heart
44	chr1:190549000-190549400	Enhancers	Brain Hippocampus Middle	brain
45	chr1:190549200-190549600	Enhancers	Brain Angular Gyrus	brain
46	chr1:190549200-190549600	Enhancers	Brain Anterior Caudate	brain
47	chr1:190549200-190549800	Enhancers	Brain Substantia Nigra	brain
48	chr1:190549400-190549800	Enhancers	Dnd41	blood
49	chr1:190559600-190559800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:190560000-190560200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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