Variant report

Variant	nsv1011043
Chromosome Location	chr1:190720009-190807350
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	chr1:190749411-190749481	K562	blood:	n/a	n/a
2	ATF1	chr1:190728883-190729327	K562	blood:	n/a	n/a
3	ATF1	chr1:190761783-190761912	K562	blood:	n/a	n/a
4	ATF1	chr1:190807070-190807368	K562	blood:	n/a	n/a
5	ATF2	chr1:190728820-190729370	GM12878	blood:	n/a	n/a
6	BACH1	chr1:190751311-190751320	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr1:190728901-190729229	GM12878	blood:	n/a	n/a
8	BATF	chr1:190728928-190729231	GM12878	blood:	n/a	n/a
9	BCL11A	chr1:190728902-190729346	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:190728951-190729274	GM12878	blood:	n/a	n/a
11	BCL3	chr1:190728829-190729276	GM12878	blood:	n/a	n/a
12	BCLAF1	chr1:190728819-190729364	GM12878	blood:	n/a	n/a
13	BRCA1	chr1:190723871-190724177	Hela-S3	cervix:	n/a	n/a
14	CCNT2	chr1:190729127-190729354	K562	blood:	n/a	n/a
15	CEBPB	chr1:190777177-190777527	K562	blood:	n/a	chr1:190777352-190777363
16	CEBPB	chr1:190744924-190745187	HepG2	liver:	n/a	chr1:190745043-190745054 chr1:190745113-190745126
17	CEBPB	chr1:190733373-190733717	MCF-7	breast:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
18	CEBPB	chr1:190780830-190781034	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:190723927-190724234	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:190733469-190733572	A549	lung:	n/a	chr1:190733521-190733532
21	CEBPB	chr1:190723911-190724247	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:190723823-190724356	MCF-7	breast:	n/a	chr1:190723892-190723903
23	CEBPB	chr1:190780810-190781095	IMR90	lung:	n/a	n/a
24	CEBPB	chr1:190777189-190777533	HepG2	liver:	n/a	chr1:190777352-190777363
25	CEBPB	chr1:190777234-190777523	A549	lung:	n/a	chr1:190777352-190777363
26	CEBPB	chr1:190723988-190724244	MCF-7	breast:	n/a	n/a
27	CEBPB	chr1:190733419-190733643	K562	blood:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
28	CEBPB	chr1:190777174-190777539	IMR90	lung:	n/a	chr1:190777352-190777363
29	CEBPB	chr1:190733409-190733680	HepG2	liver:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
30	CEBPD	chr1:190728959-190729409	K562	blood:	n/a	n/a
31	CTCF	chr1:190776014-190776105	MCF-7	breast:	n/a	n/a
32	CTCF	chr1:190724020-190724170	HCPEpiC	choroid plexus:	n/a	chr1:190724085-190724106
33	CTCF	chr1:190724000-190724150	SAEC	small airway:	n/a	chr1:190724085-190724106
34	CTCF	chr1:190724060-190724210	HMF	breast:	n/a	chr1:190724085-190724106
35	CTCF	chr1:190724040-190724190	HMEC	breast:	n/a	chr1:190724085-190724106
36	CTCF	chr1:190724000-190724150	BE2_C	brain:	n/a	chr1:190724085-190724106
37	CTCF	chr1:190723991-190724183	LNCaP	prostate:	n/a	chr1:190724085-190724106
38	CTCF	chr1:190723925-190724216	IMR90	lung:	n/a	chr1:190724085-190724106
39	CTCF	chr1:190723980-190724130	AG04449	skin:	n/a	chr1:190724085-190724106
40	CTCF	chr1:190724100-190724250	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:190724002-190724176	Medullo	brain:	n/a	chr1:190724085-190724106
42	CTCF	chr1:190723981-190724173	LNCaP	prostate:	n/a	chr1:190724085-190724106
43	CTCF	chr1:190724000-190724150	NHDF-neo	bronchial:	n/a	chr1:190724085-190724106
44	CTCF	chr1:190724000-190724150	AG04450	lung:	n/a	chr1:190724085-190724106
45	CTCF	chr1:190724060-190724210	HEEpiC	esophagus:	n/a	chr1:190724085-190724106
46	CTCF	chr1:190723580-190723730	HMEC	breast:	n/a	n/a
47	CTCF	chr1:190724000-190724150	NHEK	skin:	n/a	chr1:190724085-190724106
48	CTCF	chr1:190724020-190724170	HPAF	blood vessel:	n/a	chr1:190724085-190724106
49	CTCF	chr1:190724020-190724170	HRPEpiC	eye:	n/a	chr1:190724085-190724106
50	CTCF	chr1:190724020-190724170	HMEC	breast:	n/a	chr1:190724085-190724106

No.	Distal block	Cell Line	Cell type
1	chr1:190774136..190776489-chr1:190776681..190778449,2	MCF-7	breast:
2	chr1:190727944..190730892-chr1:190732174..190734112,2	K562	blood:
3	chr1:190774136..190776489-chr1:190776681..190778449,2	MCF-7	breast:
4	chr1:190776493..190778547-chr1:190781129..190783467,2	K562	blood:
5	chr1:190713136..190715687-chr1:190730487..190732359,2	MCF-7	breast:
6	chr1:190795111..190798007-chr1:190800651..190802735,2	K562	blood:
7	chr1:190750567..190752524-chr1:190753104..190755884,2	MCF-7	breast:
8	chr1:190776493..190778547-chr1:190781129..190783467,2	K562	blood:
9	chr1:190795111..190798007-chr1:190800651..190802735,2	K562	blood:
10	chr1:190728374..190731021-chr1:190734372..190737305,2	K562	blood:
11	chr1:190727944..190730892-chr1:190732174..190734112,2	K562	blood:
12	chr1:190723254..190725425-chr1:190726666..190728340,2	K562	blood:
13	chr1:190728374..190731021-chr1:190734372..190737305,2	K562	blood:
14	chr1:190756137..190758790-chr1:190838517..190840500,2	K562	blood:
15	chr1:190723254..190725425-chr1:190726666..190728340,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-6	chr1:190802900-190802970	NONHSAT008510
2	lnc-RGS18-12	chr1:190765332-190765468	NONHSAT008511
3	lnc-RGS18-4	chr1:190762636-190762726	ENSG00000231175.1
4	lnc-RGS18-12	chr1:190766060-190766257	NONHSAT008511
5	lnc-RGS18-11	chr1:190766654-190767086	NONHSAT008512
6	lnc-FAM5C-6	chr1:190753392-190753716	NONHSAT008510
7	lnc-RGS18-4	chr1:190760644-190760693	ENSG00000231175.1
8	lnc-RGS18-12	chr1:190773507-190773855	NONHSAT008511
9	lnc-RGS18-4	chr1:190768931-190770788	ENSG00000231175.1

Variant related genes	Relation type
ENSG00000236025	TF binding region
ENSG00000238108	TF binding region
ENSG00000236025	chromatin interactions

Extended variants
information (count: 833 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:833 , 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	rs116006606	chr1:190720013-190720014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183755724	chr1:190720049-190720050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548121700	chr1:190720104-190720105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571955569	chr1:190720121-190720122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567963591	chr1:190720136-190720137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561172357	chr1:190720139-190720140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554300789	chr1:190720171-190720172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187889472	chr1:190720177-190720178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533807624	chr1:190720190-190720191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554049807	chr1:190720206-190720207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562032434	chr1:190720210-190720211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74957244	chr1:190720224-190720225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79553623	chr1:190720225-190720226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138855659	chr1:190720230-190720231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191129540	chr1:190720237-190720238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142599386	chr1:190720259-190720260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549951620	chr1:190720274-190720275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575797382	chr1:190720287-190720288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544728751	chr1:190720291-190720292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537086158	chr1:190720308-190720309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575110536	chr1:190720309-190720310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367753022	chr1:190720326-190720327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540537101	chr1:190720327-190720328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560824525	chr1:190720331-190720332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145999050	chr1:190720342-190720343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552149521	chr1:190720350-190720351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562152248	chr1:190720361-190720362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374084254	chr1:190720447-190720448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532157296	chr1:190720452-190720453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567880301	chr1:190720489-190720490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149747767	chr1:190720493-190720494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547302168	chr1:190720498-190720499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs182182276	chr1:190720529-190720530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372124674	chr1:190720549-190720550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144582213	chr1:190720573-190720574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566257118	chr1:190720601-190720602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114849996	chr1:190720656-190720657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575714518	chr1:190720710-190720711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539614264	chr1:190720712-190720713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187187231	chr1:190720718-190720719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555120081	chr1:190720745-190720746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575021956	chr1:190720823-190720824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191596246	chr1:190720824-190720825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542403963	chr1:190720838-190720839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35651810	chr1:190720855-190720856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577458165	chr1:190720861-190720862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566121691	chr1:190720870-190720871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116661788	chr1:190720877-190720878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562114922	chr1:190720886-190720887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531221836	chr1:190720944-190720945	Weak transcription	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
Lung cancer	17086460	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190717800-190723400	Weak transcription	Fetal Lung	lung
2	chr1:190723400-190723600	Enhancers	Fetal Lung	lung
3	chr1:190723600-190724200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:190723600-190724200	Enhancers	Fetal Heart	heart
5	chr1:190723600-190724400	Weak transcription	Fetal Lung	lung
6	chr1:190723800-190724000	Enhancers	Hela-S3	cervix
7	chr1:190724400-190725000	Enhancers	Fetal Lung	lung
8	chr1:190724600-190724800	Enhancers	Hela-S3	cervix
9	chr1:190728800-190729400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:190728800-190729600	Enhancers	GM12878-XiMat	blood
11	chr1:190729000-190729600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr1:190747000-190748000	Enhancers	Brain Germinal Matrix	brain
13	chr1:190747200-190747600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:190747600-190748000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:190751200-190751400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:190751200-190751400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:190751400-190751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:190761800-190762400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:190776000-190777000	Enhancers	Fetal Lung	lung
20	chr1:190777000-190778000	Weak transcription	Fetal Lung	lung
21	chr1:190778000-190778200	Enhancers	Fetal Lung	lung
22	chr1:190782400-190783000	Enhancers	Fetal Brain Female	brain
23	chr1:190801400-190803400	Enhancers	Fetal Lung	lung
24	chr1:190801800-190802200	Enhancers	Fetal Stomach	stomach
25	chr1:190801800-190802400	Enhancers	HepG2	liver
26	chr1:190803400-190804400	Weak transcription	Fetal Lung	lung
27	chr1:190804800-190805000	Enhancers	Fetal Lung	lung

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