Variant report

Variant	esv2764254
Chromosome Location	chr1:189684184-189754788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:216)
CpG islands
(count:122)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:216 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:189743917-189744230	HepG2	liver:	n/a	n/a
2	ATF1	chr1:189692607-189692756	K562	blood:	n/a	n/a
3	BCL3	chr1:189743704-189744394	A549	lung:	n/a	chr1:189744338-189744347
4	CEBPB	chr1:189718405-189718652	A549	lung:	n/a	chr1:189718486-189718497
5	CEBPB	chr1:189739895-189740150	A549	lung:	n/a	n/a
6	CEBPB	chr1:189688196-189688361	H1-hESC	embryonic stem cell:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
7	CEBPB	chr1:189688098-189688417	A549	lung:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
8	CEBPB	chr1:189743808-189744388	MCF-7	breast:	n/a	chr1:189743903-189743914
9	CEBPB	chr1:189738671-189738934	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:189731505-189731602	K562	blood:	n/a	chr1:189731575-189731586
11	CEBPB	chr1:189688107-189688436	HepG2	liver:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
12	CEBPB	chr1:189738746-189738942	A549	lung:	n/a	n/a
13	CEBPB	chr1:189738790-189738826	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr1:189689001-189689131	IMR90	lung:	n/a	n/a
15	CEBPB	chr1:189738620-189739003	IMR90	lung:	n/a	n/a
16	CEBPB	chr1:189718442-189718647	HepG2	liver:	n/a	chr1:189718486-189718497
17	CEBPB	chr1:189688868-189689176	MCF-7	breast:	n/a	n/a
18	CEBPB	chr1:189688106-189688428	IMR90	lung:	n/a	chr1:189688274-189688285 chr1:189688275-189688286
19	CEBPB	chr1:189743902-189744361	MCF-7	breast:	n/a	chr1:189743903-189743914
20	CEBPB	chr1:189731420-189731730	HepG2	liver:	n/a	chr1:189731575-189731586
21	CEBPB	chr1:189743808-189744409	A549	lung:	n/a	chr1:189743903-189743914
22	CHD2	chr1:189703140-189703285	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr1:189718660-189718729	MCF-7	breast:	n/a	n/a
24	CTCF	chr1:189747632-189747687	GM13976	blood:	n/a	n/a
25	CTCF	chr1:189745863-189745931	GM20000	blood:	n/a	n/a
26	CTCF	chr1:189728266-189728301	Lung_OC	lung:	n/a	n/a
27	CTCF	chr1:189703921-189703979	GM20000	blood:	n/a	n/a
28	CTCF	chr1:189713056-189713086	Pancreas_OC	pancreas:	n/a	n/a
29	CTCF	chr1:189693530-189693582	GM13976	blood:	n/a	n/a
30	CTCF	chr1:189750940-189751090	HAc	cerebellar:	n/a	n/a
31	CTCF	chr1:189738460-189738610	AG04450	lung:	n/a	n/a
32	E2F4	chr1:189730467-189730667	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr1:189709593-189709793	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr1:189721194-189721701	MCF10A-Er-Src	breast:	n/a	n/a
35	ELF1	chr1:189743680-189744925	MCF-7	breast:	n/a	n/a
36	EP300	chr1:189751453-189751695	SK-N-SH_RA	brain:	n/a	n/a
37	EP300	chr1:189743719-189744479	MCF-7	breast:	n/a	chr1:189744371-189744385
38	EP300	chr1:189744521-189744864	SK-N-SH_RA	brain:	n/a	n/a
39	EP300	chr1:189709865-189710279	MCF-7	breast:	n/a	n/a
40	EP300	chr1:189743845-189744366	MCF-7	breast:	n/a	n/a
41	EP300	chr1:189744500-189744965	SK-N-SH_RA	brain:	n/a	n/a
42	EP300	chr1:189743686-189744406	T-47D	breast:	n/a	chr1:189744371-189744385
43	EP300	chr1:189743740-189744465	A549	lung:	n/a	chr1:189744371-189744385
44	EP300	chr1:189743660-189744304	A549	lung:	n/a	n/a
45	ESR1	chr1:189709864-189710252	T-47D	breast:	n/a	n/a
46	ESR1	chr1:189688836-189689182	T-47D	breast:	n/a	chr1:189689036-189689053 chr1:189689035-189689052
47	ESR1	chr1:189688801-189689260	T-47D	breast:	n/a	chr1:189689036-189689053 chr1:189689035-189689052
48	ESR1	chr1:189709860-189710295	T-47D	breast:	n/a	n/a
49	ESR1	chr1:189688916-189689199	T-47D	breast:	n/a	chr1:189689036-189689053 chr1:189689035-189689052
50	ESR1	chr1:189709830-189710276	T-47D	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:189744005-189744055	ECC-1	luminal epithelium:	n/a
2	chr1:189722103-189722153	NHDF-neo	bronchial:	n/a
3	chr1:189744005-189744055	CMK	blood:	n/a
4	chr1:189744005-189744055	HNPCEpiC	eye:	n/a
5	chr1:189744005-189744055	T-47D	breast:	n/a
6	chr1:189722103-189722153	MCF-7	breast:	n/a
7	chr1:189744005-189744055	HRPEpiC	eye:	n/a
8	chr1:189744005-189744055	ovcar-3	ovarian:	n/a
9	chr1:189744005-189744055	SK-N-MC	brain:	n/a
10	chr1:189744005-189744055	HIPEpiC	eye:	n/a
11	chr1:189722103-189722153	HEK293	kidney:	embryo
12	chr1:189722103-189722153	AG09309	skin:	n/a
13	chr1:189722103-189722153	NB4	blood:	n/a
14	chr1:189722103-189722153	HL-60	blood:	n/a
15	chr1:189722103-189722153	A549	lung:	n/a
16	chr1:189744005-189744055	GM06990	blood:	n/a
17	chr1:189744005-189744055	NB4	blood:	n/a
18	chr1:189722103-189722153	LNCaP	prostate:	n/a
19	chr1:189722103-189722153	AG04449	skin:	fetal
20	chr1:189744005-189744055	HCPEpiC	choroid plexus:	n/a
21	chr1:189744005-189744055	BJ	skin:	n/a
22	chr1:189744005-189744055	GM19239	blood:	n/a
23	chr1:189744005-189744055	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:189744005-189744055	NHBE	bronchial:	n/a
25	chr1:189722103-189722153	HCF	heart:	n/a
26	chr1:189744005-189744055	HL-60	blood:	n/a
27	chr1:189722103-189722153	GM19239	blood:	n/a
28	chr1:189722103-189722153	HRCEpiC	kidney:	n/a
29	chr1:189744005-189744055	PrEC	prostate:	n/a
30	chr1:189744005-189744055	SAEC	small airway:	n/a
31	chr1:189744005-189744055	Caco-2	colon:	n/a
32	chr1:189722103-189722153	SKMC	muscle:	n/a
33	chr1:189744005-189744055	NHDF-neo	bronchial:	n/a
34	chr1:189722103-189722153	HCT-116	colon:	n/a
35	chr1:189722103-189722153	AG04450	lung:	fetal
36	chr1:189744005-189744055	HCF	heart:	n/a
37	chr1:189722103-189722153	Caco-2	colon:	n/a
38	chr1:189722103-189722153	T-47D	breast:	n/a
39	chr1:189722103-189722153	SK-N-MC	brain:	n/a
40	chr1:189744005-189744055	A549	lung:	n/a
41	chr1:189744005-189744055	GM12891	blood:	n/a
42	chr1:189722103-189722153	SAEC	small airway:	n/a
43	chr1:189744005-189744055	SK-N-SH	brain:	n/a
44	chr1:189722103-189722153	NHBE	bronchial:	n/a
45	chr1:189744005-189744055	PFSK-1	brain:	n/a
46	chr1:189744005-189744055	K562	blood:	n/a
47	chr1:189722103-189722153	HEEpiC	esophagus:	n/a
48	chr1:189744005-189744055	HCM	heart:	n/a
49	chr1:189722103-189722153	PrEC	prostate:	n/a
50	chr1:189722103-189722153	AG09319	gingival:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189740038..189741669-chr1:189745873..189748337,2	K562	blood:
2	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
3	chr1:189705156..189706947-chr1:189708552..189710958,2	K562	blood:
4	chr1:189625524..189628069-chr1:189701890..189703665,2	MCF-7	breast:
5	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:
6	chr1:189709848..189710556-chr1:189743646..189744501,3	MCF-7	breast:
7	chr1:189740038..189741669-chr1:189745873..189748337,2	K562	blood:
8	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
9	chr1:189705345..189707314-chr1:189708117..189710746,3	MCF-7	breast:
10	chr1:189746682..189748361-chr1:189748606..189750164,2	MCF-7	breast:
11	chr1:189746682..189748361-chr1:189748606..189750164,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-7	chr1:189746390-189746467	XLOC_000503
2	lnc-RGS18-7	chr1:189744595-189744695	XLOC_000503

No data

Variant related genes	Relation type
ENSG00000232212	TF binding region
ENSG00000232212	CpG island
SOX11	miRNA target sites

Extended variants
information (count: 406 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:406 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140207627	chr1:189688009-189688010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72737952	chr1:189688041-189688042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs193044725	chr1:189688068-189688069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542745349	chr1:189688138-189688139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559448308	chr1:189688139-189688140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528734569	chr1:189688147-189688148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184760158	chr1:189688152-189688153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565467041	chr1:189688162-189688163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531219291	chr1:189688183-189688184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs504384	chr1:189688204-189688205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567671444	chr1:189688205-189688206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10733059	chr1:189688228-189688229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564054866	chr1:189688233-189688234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529520702	chr1:189688240-189688241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531113798	chr1:189688250-189688251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546699081	chr1:189688255-189688256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566618179	chr1:189688362-189688363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145395158	chr1:189688363-189688364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188085367	chr1:189688375-189688376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577896870	chr1:189688378-189688379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537369605	chr1:189688390-189688391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73055642	chr1:189688444-189688445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs137977319	chr1:189688501-189688502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542633085	chr1:189688502-189688503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79143297	chr1:189688528-189688529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149623304	chr1:189688536-189688537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564695092	chr1:189688537-189688538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565992503	chr1:189688554-189688555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545306961	chr1:189688597-189688598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573140979	chr1:189720601-189720602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs80001584	chr1:189720647-189720648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558782303	chr1:189720660-189720661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374865761	chr1:189720670-189720671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577955118	chr1:189720765-189720766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188315819	chr1:189720792-189720793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114323314	chr1:189720832-189720833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569510345	chr1:189720857-189720858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542519628	chr1:189720921-189720922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536872109	chr1:189720926-189720927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559333309	chr1:189721015-189721016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35037402	chr1:189721020-189721021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397982357	chr1:189721021-189721022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200369523	chr1:189721042-189721043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371316466	chr1:189721049-189721050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528051691	chr1:189721104-189721105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79172661	chr1:189721115-189721116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193184064	chr1:189721130-189721131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144685573	chr1:189721164-189721165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376703998	chr1:189721200-189721201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183867830	chr1:189721243-189721244	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
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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189688000-189688600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:189720600-189720800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:189720800-189721600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:189721600-189722400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:189721600-189722600	Enhancers	Fetal Heart	heart
6	chr1:189721600-189723000	Enhancers	Fetal Lung	lung
7	chr1:189721800-189722000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:189722000-189722600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:189722000-189722600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:189722400-189723000	Enhancers	Hela-S3	cervix
11	chr1:189722600-189722800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:189733200-189734200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:189733400-189734000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:189733400-189734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:189733400-189734400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:189743400-189743600	Enhancers	A549	lung
17	chr1:189743600-189744800	Flanking Active TSS	A549	lung
18	chr1:189744000-189744600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:189744000-189745000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:189744000-189745200	Enhancers	Fetal Heart	heart
21	chr1:189744200-189745000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:189744200-189745000	Enhancers	NH-A	brain
23	chr1:189744400-189744800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:189744400-189745000	Enhancers	Hela-S3	cervix
25	chr1:189744800-189745000	Enhancers	A549	lung
26	chr1:189745000-189745200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:189745200-189746200	Weak transcription	Fetal Heart	heart
28	chr1:189746200-189746800	Enhancers	Fetal Heart	heart
29	chr1:189751000-189751800	Enhancers	Fetal Brain Male	brain
30	chr1:189751400-189751800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:189751800-189754800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:189754600-189755600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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