Variant report

Variant	nsv517867
Chromosome Location	chr1:188850774-188967356
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:435)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:435 , 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	chr1:188884384-188884432	K562	blood:	n/a	n/a
2	BACH1	chr1:188957759-188958083	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr1:188857430-188857935	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr1:188940585-188940844	HepG2	liver:	n/a	n/a
5	CEBPB	chr1:188861137-188861478	HepG2	liver:	n/a	chr1:188861298-188861309
6	CEBPB	chr1:188918872-188919227	IMR90	lung:	n/a	n/a
7	CEBPB	chr1:188861165-188861434	K562	blood:	n/a	chr1:188861298-188861309
8	CEBPB	chr1:188857286-188858045	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr1:188908501-188909140	IMR90	lung:	n/a	chr1:188908639-188908650
10	CEBPB	chr1:188908490-188909077	A549	lung:	n/a	chr1:188908639-188908650
11	CEBPB	chr1:188857462-188857804	IMR90	lung:	n/a	n/a
12	CEBPB	chr1:188908515-188909072	HepG2	liver:	n/a	chr1:188908639-188908650
13	CEBPB	chr1:188861151-188861446	A549	lung:	n/a	chr1:188861298-188861309
14	CEBPB	chr1:188854862-188855129	HepG2	liver:	n/a	chr1:188854961-188854974 chr1:188854963-188854974 chr1:188854961-188854972 chr1:188854961-188854974
15	CEBPB	chr1:188861142-188861475	Hela-S3	cervix:	n/a	chr1:188861298-188861309
16	CEBPB	chr1:188861237-188861445	H1-hESC	embryonic stem cell:	n/a	chr1:188861298-188861309
17	CEBPB	chr1:188962787-188963036	HepG2	liver:	n/a	chr1:188962894-188962905
18	CEBPB	chr1:188861120-188861477	IMR90	lung:	n/a	chr1:188861298-188861309
19	CEBPB	chr1:188940517-188940817	IMR90	lung:	n/a	n/a
20	CEBPB	chr1:188962765-188962986	H1-hESC	embryonic stem cell:	n/a	chr1:188962894-188962905
21	CEBPB	chr1:188940509-188940936	A549	lung:	n/a	n/a
22	CHD2	chr1:188857543-188857987	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr1:188873380-188873674	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr1:188911366-188911566	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr1:188881344-188881706	MCF-7	breast:	n/a	n/a
26	CTCF	chr1:188907440-188907590	HepG2	liver:	n/a	n/a
27	CTCF	chr1:188927715-188927854	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:188881480-188881630	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr1:188927740-188927890	GM12867	blood:	n/a	n/a
30	CTCF	chr1:188907460-188907610	HCT-116	colon:	n/a	n/a
31	CTCF	chr1:188907420-188907570	AG04449	skin:	n/a	n/a
32	CTCF	chr1:188907230-188907682	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:188927740-188927890	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr1:188907400-188907547	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:188913689-188913825	Medullo	brain:	n/a	n/a
36	CTCF	chr1:188907400-188907550	HBMEC	blood vessel:	n/a	n/a
37	CTCF	chr1:188881460-188881610	HRE	kidney:	n/a	n/a
38	CTCF	chr1:188907379-188907587	Gliobla	brain:	n/a	n/a
39	CTCF	chr1:188907399-188907564	A549	lung:	n/a	n/a
40	CTCF	chr1:188907360-188907510	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr1:188881440-188881590	HMEC	breast:	n/a	n/a
42	CTCF	chr1:188927697-188927833	MCF-7	breast:	n/a	n/a
43	CTCF	chr1:188907500-188907650	HRPEpiC	eye:	n/a	n/a
44	CTCF	chr1:188907400-188907550	NB4	blood:	n/a	n/a
45	CTCF	chr1:188881560-188881710	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:188907424-188907544	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:188927620-188927770	GM12871	blood:	n/a	n/a
48	CTCF	chr1:188907420-188907570	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr1:188907440-188907590	GM12873	blood:	n/a	n/a
50	CTCF	chr1:188907451-188907518	NHEK	skin:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:188917480..188919329-chr1:188920804..188923130,2	MCF-7	breast:
2	chr1:188866159..188868933-chr1:188870871..188872423,2	MCF-7	breast:
3	chr1:188899689..188901909-chr1:188904686..188906688,2	K562	blood:
4	chr1:188899689..188901909-chr1:188904686..188906688,2	K562	blood:
5	chr1:188896826..188898736-chr1:188903150..188906844,3	MCF-7	breast:
6	chr1:188401580..188402198-chr1:188862429..188863519,3	MCF-7	breast:
7	chr1:188896826..188898736-chr1:188903150..188906844,3	MCF-7	breast:
8	chr1:188917480..188919329-chr1:188920804..188923130,2	MCF-7	breast:
9	chr1:188866159..188868933-chr1:188870871..188872423,2	MCF-7	breast:
10	chr1:188751121..188751789-chr1:188907053..188907934,3	MCF-7	breast:
11	chr1:188902220..188904596-chr1:189118871..189120838,2	K562	blood:
12	chr1:188458178..188458728-chr1:188906958..188907936,3	MCF-7	breast:
13	chr1:188846061..188848491-chr1:188851171..188853585,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-2	chr1:188856372-188856565	XLOC_001129
2	lnc-PLA2G4A-17	chr1:188860643-188860786	refGeneNc_416_NR_033922
3	lnc-PLA2G4A-6	chr1:188874819-188875057	ENSG00000226486

No data

Variant related genes	Relation type
LINC01035	TF binding region
ENSG00000238054	TF binding region
KIAA0494	miRNA target sites

Extended variants
information (count: 1550 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1550 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571867094	chr1:188854434-188854435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113572392	chr1:188854438-188854439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6685117	chr1:188854443-188854444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs151205876	chr1:188854463-188854464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563652690	chr1:188854519-188854520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555745481	chr1:188854543-188854544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563854555	chr1:188854586-188854587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76888976	chr1:188854601-188854602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139123587	chr1:188854623-188854624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74138188	chr1:188854629-188854630	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs116684944	chr1:188854656-188854657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386637811	chr1:188854706-188854707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142324098	chr1:188854708-188854709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575560581	chr1:188854731-188854732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148991891	chr1:188854746-188854747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547217479	chr1:188854748-188854749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570513786	chr1:188854776-188854777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186214746	chr1:188854803-188854804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73068943	chr1:188854812-188854813	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569278819	chr1:188854855-188854856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535368709	chr1:188854887-188854888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73068944	chr1:188854937-188854938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532891713	chr1:188854982-188854983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571953653	chr1:188855037-188855038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546229081	chr1:188855040-188855041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116820540	chr1:188855058-188855059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558004708	chr1:188855099-188855100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578032285	chr1:188855115-188855116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147291719	chr1:188855147-188855148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16829499	chr1:188855157-188855158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557335279	chr1:188855176-188855177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs16829503	chr1:188855187-188855188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190982074	chr1:188855240-188855241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560078692	chr1:188855265-188855266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528732758	chr1:188855274-188855275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73068947	chr1:188855302-188855303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs565310504	chr1:188855313-188855314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533065953	chr1:188855354-188855355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549567865	chr1:188855357-188855358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569309841	chr1:188855358-188855359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16829508	chr1:188855372-188855373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4845239	chr1:188855374-188855375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182308743	chr1:188855403-188855404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186076778	chr1:188855449-188855450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190797010	chr1:188855462-188855463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371817920	chr1:188855465-188855466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557954559	chr1:188855466-188855467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73068949	chr1:188855468-188855469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375575718	chr1:188855469-188855470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571320312	chr1:188855472-188855473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Chronic lymphocytic leukemia	21546498	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
Myelofibrosis	22110671	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:188854400-188855000	Enhancers	Hela-S3	cervix
2	chr1:188855000-188855800	Weak transcription	Hela-S3	cervix
3	chr1:188855800-188856400	Enhancers	Hela-S3	cervix
4	chr1:188856400-188857600	Flanking Active TSS	Hela-S3	cervix
5	chr1:188857200-188858000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:188857600-188859200	Weak transcription	Hela-S3	cervix
7	chr1:188859200-188859600	Enhancers	Hela-S3	cervix
8	chr1:188869600-188869800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:188869800-188872000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:188872000-188872200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:188872200-188873000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:188873000-188874000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:188873200-188873600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:188873200-188873800	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:188873400-188873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:188873400-188873800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:188873400-188873800	Enhancers	Hela-S3	cervix
18	chr1:188873400-188874000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:188873400-188874000	Enhancers	Fetal Intestine Large	intestine
20	chr1:188883800-188884600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr1:188884200-188884600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:188897800-188898400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:188898000-188898400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:188898000-188898400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:188898000-188898600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:188898200-188898600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr1:188898400-188910800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:188901800-188902400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr1:188907000-188907400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:188907200-188907400	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:188907400-188911000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:188907600-188911000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:188910800-188911800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:188911000-188911200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:188911000-188911200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:188911000-188911600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:188911000-188911600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr1:188911000-188911600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:188911000-188911600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:188911000-188911800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:188911000-188911800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:188911200-188911400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:188911200-188911400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:188911200-188911600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:188911400-188911600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:188911400-188911600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr1:188911600-188912000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:188918800-188919200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:188918800-188919200	Enhancers	A549	lung
50	chr1:188922400-188922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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