Variant report

Variant	nsv872772
Chromosome Location	chr1:190637116-190794433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:444)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:444 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	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	chr1:190728902-190729346	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	BCL3	chr1:190668283-190668559	GM12878	blood:	n/a	n/a
13	BCLAF1	chr1:190728819-190729364	GM12878	blood:	n/a	n/a
14	BRCA1	chr1:190648299-190649696	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr1:190723871-190724177	Hela-S3	cervix:	n/a	n/a
16	CCNT2	chr1:190729127-190729354	K562	blood:	n/a	n/a
17	CCNT2	chr1:190683985-190684147	K562	blood:	n/a	n/a
18	CEBPB	chr1:190716856-190717197	Hela-S3	cervix:	n/a	chr1:190717020-190717033
19	CEBPB	chr1:190777234-190777523	A549	lung:	n/a	chr1:190777352-190777363
20	CEBPB	chr1:190707428-190707818	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr1:190780810-190781095	IMR90	lung:	n/a	n/a
22	CEBPB	chr1:190708373-190708526	A549	lung:	n/a	n/a
23	CEBPB	chr1:190723823-190724356	MCF-7	breast:	n/a	chr1:190723892-190723903
24	CEBPB	chr1:190777189-190777533	HepG2	liver:	n/a	chr1:190777352-190777363
25	CEBPB	chr1:190707435-190707862	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:190733409-190733680	HepG2	liver:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
27	CEBPB	chr1:190733469-190733572	A549	lung:	n/a	chr1:190733521-190733532
28	CEBPB	chr1:190777177-190777527	K562	blood:	n/a	chr1:190777352-190777363
29	CEBPB	chr1:190637250-190637383	HepG2	liver:	n/a	chr1:190637295-190637306
30	CEBPB	chr1:190637105-190637477	Hela-S3	cervix:	n/a	chr1:190637295-190637306
31	CEBPB	chr1:190648208-190649520	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr1:190723911-190724247	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr1:190687378-190687619	HepG2	liver:	n/a	chr1:190687469-190687480
34	CEBPB	chr1:190733373-190733717	MCF-7	breast:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
35	CEBPB	chr1:190723927-190724234	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:190777174-190777539	IMR90	lung:	n/a	chr1:190777352-190777363
37	CEBPB	chr1:190733419-190733643	K562	blood:	n/a	chr1:190733456-190733468 chr1:190733521-190733532
38	CEBPB	chr1:190670553-190670843	HepG2	liver:	n/a	n/a
39	CEBPB	chr1:190637060-190637483	HepG2	liver:	n/a	chr1:190637295-190637306
40	CEBPB	chr1:190780830-190781034	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:190637107-190637444	MCF-7	breast:	n/a	chr1:190637295-190637306
42	CEBPB	chr1:190667926-190668123	K562	blood:	n/a	chr1:190667995-190668006
43	CEBPB	chr1:190657313-190657597	IMR90	lung:	n/a	n/a
44	CEBPB	chr1:190744924-190745187	HepG2	liver:	n/a	chr1:190745043-190745054 chr1:190745113-190745126
45	CEBPB	chr1:190723988-190724244	MCF-7	breast:	n/a	n/a
46	CEBPB	chr1:190667733-190668142	HepG2	liver:	n/a	chr1:190667995-190668006
47	CEBPD	chr1:190728959-190729409	K562	blood:	n/a	n/a
48	CTCF	chr1:190723980-190724130	SK-N-SH_RA	brain:	n/a	chr1:190724085-190724106
49	CTCF	chr1:190724000-190724150	AoAF	blood vessel:	n/a	chr1:190724085-190724106
50	CTCF	chr1:190775988-190776129	MCF-7	breast:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:
2	chr1:190727944..190730892-chr1:190732174..190734112,2	K562	blood:
3	chr1:190750567..190752524-chr1:190753104..190755884,2	MCF-7	breast:
4	chr1:190756137..190758790-chr1:190838517..190840500,2	K562	blood:
5	chr1:190713136..190715687-chr1:190730487..190732359,2	MCF-7	breast:
6	chr1:190723254..190725425-chr1:190726666..190728340,2	K562	blood:
7	chr1:190774136..190776489-chr1:190776681..190778449,2	MCF-7	breast:
8	chr1:190728374..190731021-chr1:190734372..190737305,2	K562	blood:
9	chr1:190723254..190725425-chr1:190726666..190728340,2	K562	blood:
10	chr1:190644661..190646873-chr1:190648441..190650340,2	K562	blood:
11	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:
12	chr1:190639004..190639517-chr14:55272079..55272672,2	MCF-7	breast:
13	chr1:190644661..190646873-chr1:190648441..190650340,2	K562	blood:
14	chr1:190712755..190714795-chr1:190716626..190718299,3	K562	blood:
15	chr1:190774136..190776489-chr1:190776681..190778449,2	MCF-7	breast:
16	chr1:190728374..190731021-chr1:190734372..190737305,2	K562	blood:
17	chr1:190712755..190714795-chr1:190716626..190718299,3	K562	blood:
18	chr1:190776493..190778547-chr1:190781129..190783467,2	K562	blood:
19	chr1:190637327..190640088-chr1:190646297..190648872,3	MCF-7	breast:
20	chr1:190727944..190730892-chr1:190732174..190734112,2	K562	blood:
21	chr1:190776493..190778547-chr1:190781129..190783467,2	K562	blood:
22	chr1:190639126..190641386-chr1:190656702..190659686,2	K562	blood:
23	chr1:190713136..190715687-chr1:190730487..190732359,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1084 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1084 , 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	rs1325224	chr1:190637116-190637117	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369480405	chr1:190637121-190637122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528363827	chr1:190637138-190637139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551283045	chr1:190637152-190637153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564104585	chr1:190637153-190637154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533163712	chr1:190637177-190637178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577613425	chr1:190637193-190637194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549816876	chr1:190637284-190637285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188144501	chr1:190637306-190637307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375117789	chr1:190637312-190637313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192908811	chr1:190637349-190637350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535617216	chr1:190637350-190637351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185283713	chr1:190637380-190637381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566172088	chr1:190637396-190637397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149801619	chr1:190637403-190637404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535309421	chr1:190637417-190637418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541715392	chr1:190637474-190637475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558506361	chr1:190637481-190637482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10920767	chr1:190637500-190637501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559709599	chr1:190637508-190637509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190180106	chr1:190637518-190637519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10920768	chr1:190637519-190637520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557034219	chr1:190637541-190637542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115148830	chr1:190637578-190637579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs60397014	chr1:190637581-190637582	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs10920769	chr1:190637589-190637590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559469432	chr1:190637599-190637600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577505649	chr1:190645830-190645831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35956572	chr1:190645895-190645896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564391553	chr1:190645904-190645905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544399125	chr1:190645927-190645928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149374086	chr1:190645968-190645969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144085339	chr1:190646005-190646006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs56075203	chr1:190646018-190646019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561818932	chr1:190646024-190646025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527493258	chr1:190646030-190646031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148247061	chr1:190646031-190646032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141235823	chr1:190646081-190646082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187554596	chr1:190646086-190646087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71637240	chr1:190646135-190646136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150802051	chr1:190646147-190646148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191720255	chr1:190646162-190646163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35619135	chr1:190646205-190646206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398049910	chr1:190646218-190646219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs114335870	chr1:190646224-190646225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560570075	chr1:190646225-190646226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183890418	chr1:190646262-190646263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568272138	chr1:190646271-190646272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534115017	chr1:190646274-190646275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528944674	chr1:190646304-190646305	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190636800-190637400	Enhancers	HepG2	liver
2	chr1:190637200-190637600	Enhancers	Hela-S3	cervix
3	chr1:190645800-190646400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:190647600-190649200	Enhancers	Hela-S3	cervix
5	chr1:190648600-190648800	Enhancers	HUVEC	blood vessel
6	chr1:190649200-190649600	Flanking Active TSS	Hela-S3	cervix
7	chr1:190649600-190649800	Enhancers	Hela-S3	cervix
8	chr1:190673200-190673600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:190709000-190709800	Enhancers	Fetal Heart	heart
10	chr1:190715000-190717800	Enhancers	Fetal Lung	lung
11	chr1:190716400-190717400	Enhancers	Adipose Nuclei	Adipose
12	chr1:190716400-190717400	Enhancers	Hela-S3	cervix
13	chr1:190716400-190717800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:190717800-190723400	Weak transcription	Fetal Lung	lung
15	chr1:190719200-190719600	Enhancers	Fetal Kidney	kidney
16	chr1:190723400-190723600	Enhancers	Fetal Lung	lung
17	chr1:190723600-190724200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:190723600-190724200	Enhancers	Fetal Heart	heart
19	chr1:190723600-190724400	Weak transcription	Fetal Lung	lung
20	chr1:190723800-190724000	Enhancers	Hela-S3	cervix
21	chr1:190724400-190725000	Enhancers	Fetal Lung	lung
22	chr1:190724600-190724800	Enhancers	Hela-S3	cervix
23	chr1:190728800-190729400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:190728800-190729600	Enhancers	GM12878-XiMat	blood
25	chr1:190729000-190729600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:190747000-190748000	Enhancers	Brain Germinal Matrix	brain
27	chr1:190747200-190747600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:190747600-190748000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr1:190751200-190751400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:190751200-190751400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:190751400-190751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:190761800-190762400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:190776000-190777000	Enhancers	Fetal Lung	lung
34	chr1:190777000-190778000	Weak transcription	Fetal Lung	lung
35	chr1:190778000-190778200	Enhancers	Fetal Lung	lung
36	chr1:190782400-190783000	Enhancers	Fetal Brain Female	brain

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