Variant report

Variant	nsv548572
Chromosome Location	chr1:190675536-190773829
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	chr1:190728883-190729327	K562	blood:	n/a	n/a
2	ATF1	chr1:190749411-190749481	K562	blood:	n/a	n/a
3	ATF1	chr1:190761783-190761912	K562	blood:	n/a	n/a
4	ATF2	chr1:190728820-190729370	GM12878	blood:	n/a	n/a
5	BACH1	chr1:190751311-190751320	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:190717691-190717752	K562	blood:	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	chr1:190728951-190729274	GM12878	blood:	n/a	n/a
10	BCL11A	chr1:190728902-190729346	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	chr1:190683985-190684147	K562	blood:	n/a	n/a
15	CCNT2	chr1:190729127-190729354	K562	blood:	n/a	n/a
16	CEBPB	chr1:190723911-190724247	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr1:190707435-190707862	IMR90	lung:	n/a	n/a
18	CEBPB	chr1:190723927-190724234	IMR90	lung:	n/a	n/a
19	CEBPB	chr1:190723823-190724356	MCF-7	breast:	n/a	chr1:190723892-190723903
20	CEBPB	chr1:190733419-190733643	K562	blood:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
21	CEBPB	chr1:190716856-190717197	Hela-S3	cervix:	n/a	chr1:190717020-190717033
22	CEBPB	chr1:190687378-190687619	HepG2	liver:	n/a	chr1:190687469-190687480
23	CEBPB	chr1:190707428-190707818	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr1:190723988-190724244	MCF-7	breast:	n/a	n/a
25	CEBPB	chr1:190733409-190733680	HepG2	liver:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
26	CEBPB	chr1:190733373-190733717	MCF-7	breast:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
27	CEBPB	chr1:190733469-190733572	A549	lung:	n/a	chr1:190733521-190733532
28	CEBPB	chr1:190744924-190745187	HepG2	liver:	n/a	chr1:190745043-190745054 chr1:190745113-190745126
29	CEBPB	chr1:190708373-190708526	A549	lung:	n/a	n/a
30	CEBPD	chr1:190728959-190729409	K562	blood:	n/a	n/a
31	CTCF	chr1:190724000-190724150	AoAF	blood vessel:	n/a	chr1:190724085-190724106
32	CTCF	chr1:190724000-190724150	SAEC	small airway:	n/a	chr1:190724085-190724106
33	CTCF	chr1:190724020-190724170	HMEC	breast:	n/a	chr1:190724085-190724106
34	CTCF	chr1:190723858-190724314	MCF-7	breast:	n/a	chr1:190724085-190724106
35	CTCF	chr1:190692135-190692196	GM20000	blood:	n/a	n/a
36	CTCF	chr1:190724027-190724161	MCF-7	breast:	n/a	chr1:190724085-190724106
37	CTCF	chr1:190724000-190724150	HPAF	blood vessel:	n/a	chr1:190724085-190724106
38	CTCF	chr1:190724060-190724210	HMF	breast:	n/a	chr1:190724085-190724106
39	CTCF	chr1:190723981-190724173	LNCaP	prostate:	n/a	chr1:190724085-190724106
40	CTCF	chr1:190724020-190724170	NHEK	skin:	n/a	chr1:190724085-190724106
41	CTCF	chr1:190724020-190724170	HCM	heart:	n/a	chr1:190724085-190724106
42	CTCF	chr1:190723980-190724130	K562	blood:	n/a	chr1:190724085-190724106
43	CTCF	chr1:190724040-190724190	HMEC	breast:	n/a	chr1:190724085-190724106
44	CTCF	chr1:190723980-190724130	SK-N-SH_RA	brain:	n/a	chr1:190724085-190724106
45	CTCF	chr1:190724000-190724150	Caco-2	colon:	n/a	chr1:190724085-190724106
46	CTCF	chr1:190724000-190724150	BE2_C	brain:	n/a	chr1:190724085-190724106
47	CTCF	chr1:190724000-190724150	AG04450	lung:	n/a	chr1:190724085-190724106
48	CTCF	chr1:190723980-190724130	HCT-116	colon:	n/a	chr1:190724085-190724106
49	CTCF	chr1:190724002-190724176	Medullo	brain:	n/a	chr1:190724085-190724106
50	CTCF	chr1:190684102-190684147	GM13976	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:190713136..190715687-chr1:190730487..190732359,2	MCF-7	breast:
2	chr1:190723254..190725425-chr1:190726666..190728340,2	K562	blood:
3	chr1:190728374..190731021-chr1:190734372..190737305,2	K562	blood:
4	chr1:190727944..190730892-chr1:190732174..190734112,2	K562	blood:
5	chr1:190723254..190725425-chr1:190726666..190728340,2	K562	blood:
6	chr1:190712755..190714795-chr1:190716626..190718299,3	K562	blood:
7	chr1:190756137..190758790-chr1:190838517..190840500,2	K562	blood:
8	chr1:190750567..190752524-chr1:190753104..190755884,2	MCF-7	breast:
9	chr1:190728374..190731021-chr1:190734372..190737305,2	K562	blood:
10	chr1:190713136..190715687-chr1:190730487..190732359,2	MCF-7	breast:
11	chr1:190727944..190730892-chr1:190732174..190734112,2	K562	blood:
12	chr1:190712755..190714795-chr1:190716626..190718299,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-11	chr1:190766654-190767086	NONHSAT008512
2	lnc-RGS18-12	chr1:190773507-190773855	NONHSAT008511
3	lnc-RGS18-12	chr1:190766060-190766257	NONHSAT008511
4	lnc-RGS18-4	chr1:190768931-190770788	ENSG00000231175.1
5	lnc-RGS18-4	chr1:190762636-190762726	ENSG00000231175.1
6	lnc-RGS18-12	chr1:190765332-190765468	NONHSAT008511
7	lnc-FAM5C-6	chr1:190753392-190753716	NONHSAT008510
8	lnc-RGS18-4	chr1:190707568-190707640	ENSG00000231175.1
9	lnc-RGS18-4	chr1:190760644-190760693	ENSG00000231175.1

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

Extended variants
information (count: 816 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:816 , 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	rs145662365	chr1:190707578-190707579	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs574950523	chr1:190707579-190707580	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs79312575	chr1:190707580-190707581	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs560845247	chr1:190707587-190707588	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs148901014	chr1:190707588-190707589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539267494	chr1:190707601-190707602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs572028961	chr1:190707610-190707611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs79706560	chr1:190709007-190709008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183049498	chr1:190709014-190709015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188430745	chr1:190709055-190709056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59739924	chr1:190709086-190709087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534964640	chr1:190709099-190709100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144690636	chr1:190709104-190709105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12135407	chr1:190709144-190709145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191170533	chr1:190709152-190709153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148213222	chr1:190709153-190709154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576529462	chr1:190709167-190709168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542396366	chr1:190709332-190709333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35013866	chr1:190709333-190709334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201359497	chr1:190709335-190709336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183779415	chr1:190709351-190709352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117040327	chr1:190709370-190709371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199720475	chr1:190709379-190709380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566899624	chr1:190709389-190709390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141537897	chr1:190709393-190709394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150875236	chr1:190709400-190709401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536488986	chr1:190709413-190709414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549584048	chr1:190709433-190709434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74129784	chr1:190709476-190709477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138352278	chr1:190709501-190709502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10429896	chr1:190709600-190709601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549157800	chr1:190709634-190709635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35864653	chr1:190709647-190709648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs397783698	chr1:190709652-190709653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565922644	chr1:190709653-190709654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144098623	chr1:190709703-190709704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187401572	chr1:190709710-190709711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569438435	chr1:190709719-190709720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570829019	chr1:190709734-190709735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533985493	chr1:190715013-190715014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576662520	chr1:190715015-190715016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548844977	chr1:190715045-190715046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542124980	chr1:190715098-190715099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561297065	chr1:190715108-190715109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527308744	chr1:190715110-190715111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190471526	chr1:190715149-190715150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564195298	chr1:190715164-190715165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs79194549	chr1:190715191-190715192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567313928	chr1:190715194-190715195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189235922	chr1:190715204-190715205	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190709000-190709800	Enhancers	Fetal Heart	heart
2	chr1:190715000-190717800	Enhancers	Fetal Lung	lung
3	chr1:190716400-190717400	Enhancers	Adipose Nuclei	Adipose
4	chr1:190716400-190717400	Enhancers	Hela-S3	cervix
5	chr1:190716400-190717800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:190717800-190723400	Weak transcription	Fetal Lung	lung
7	chr1:190719200-190719600	Enhancers	Fetal Kidney	kidney
8	chr1:190723400-190723600	Enhancers	Fetal Lung	lung
9	chr1:190723600-190724200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:190723600-190724200	Enhancers	Fetal Heart	heart
11	chr1:190723600-190724400	Weak transcription	Fetal Lung	lung
12	chr1:190723800-190724000	Enhancers	Hela-S3	cervix
13	chr1:190724400-190725000	Enhancers	Fetal Lung	lung
14	chr1:190724600-190724800	Enhancers	Hela-S3	cervix
15	chr1:190728800-190729400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:190728800-190729600	Enhancers	GM12878-XiMat	blood
17	chr1:190729000-190729600	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr1:190747000-190748000	Enhancers	Brain Germinal Matrix	brain
19	chr1:190747200-190747600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:190747600-190748000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:190751200-190751400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:190751200-190751400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:190751400-190751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:190761800-190762400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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