Variant report

Variant	esv3584863
Chromosome Location	chr7:125625696-125735363
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	BATF	chr7:125656888-125657086	GM12878	blood:	n/a	chr7:125657018-125657029 chr7:125657002-125657013
2	BHLHE40	chr7:125720305-125720422	GM12878	blood:	n/a	n/a
3	BRCA1	chr7:125661964-125662015	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:125719721-125720047	H1-hESC	embryonic stem cell:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
5	CEBPB	chr7:125700034-125700243	HepG2	liver:	n/a	chr7:125700115-125700126 chr7:125700113-125700126 chr7:125700115-125700126 chr7:125700113-125700124 chr7:125700113-125700126
6	CEBPB	chr7:125731943-125732262	IMR90	lung:	n/a	chr7:125732111-125732124 chr7:125732113-125732122 chr7:125732113-125732122 chr7:125732111-125732124 chr7:125732111-125732122 chr7:125732112-125732123 chr7:125732113-125732122 chr7:125732113-125732122
7	CEBPB	chr7:125654844-125655083	H1-hESC	embryonic stem cell:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
8	CEBPB	chr7:125654905-125655125	HepG2	liver:	n/a	chr7:125654981-125654994
9	CEBPB	chr7:125628748-125628924	A549	lung:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
10	CEBPB	chr7:125694384-125694663	HepG2	liver:	n/a	chr7:125694534-125694545
11	CEBPB	chr7:125641111-125641392	HepG2	liver:	n/a	chr7:125641225-125641236
12	CEBPB	chr7:125628636-125628960	HepG2	liver:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
13	CEBPB	chr7:125719727-125720031	HepG2	liver:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
14	CEBPB	chr7:125654834-125655110	IMR90	lung:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
15	CEBPB	chr7:125677488-125677754	HepG2	liver:	n/a	chr7:125677605-125677616
16	CEBPB	chr7:125731944-125732277	HepG2	liver:	n/a	chr7:125732111-125732124 chr7:125732113-125732122 chr7:125732113-125732122 chr7:125732111-125732124 chr7:125732111-125732122 chr7:125732112-125732123 chr7:125732113-125732122 chr7:125732113-125732122
17	CEBPB	chr7:125731963-125732282	K562	blood:	n/a	chr7:125732111-125732124 chr7:125732113-125732122 chr7:125732113-125732122 chr7:125732111-125732124 chr7:125732111-125732122 chr7:125732112-125732123 chr7:125732113-125732122 chr7:125732113-125732122
18	CEBPB	chr7:125699528-125699779	IMR90	lung:	n/a	n/a
19	CEBPB	chr7:125719752-125720054	IMR90	lung:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
20	CEBPB	chr7:125654878-125655143	Hela-S3	cervix:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
21	CTCF	chr7:125681756-125681769	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:125656924-125656949	Lung_OC	lung:	n/a	n/a
23	CTCF	chr7:125681620-125681770	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:125680520-125680670	GM12875	blood:	n/a	n/a
25	CTCF	chr7:125684220-125684272	GM20000	blood:	n/a	n/a
26	CTCF	chr7:125681770-125681774	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:125681745-125681860	GM19239	blood:	n/a	n/a
28	CTCF	chr7:125673993-125674045	LNCaP	prostate:	n/a	n/a
29	CTCF	chr7:125681680-125681830	HEK293	kidney:	n/a	n/a
30	CTCF	chr7:125681620-125681770	NHEK	skin:	n/a	n/a
31	CTCF	chr7:125681710-125681784	GM12891	blood:	n/a	n/a
32	CTCF	chr7:125681722-125681822	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:125659070-125659096	GM20000	blood:	n/a	n/a
34	CTCF	chr7:125681776-125681789	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:125681723-125681839	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:125664295-125664343	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr7:125638988-125639158	GM12878	blood:	n/a	n/a
38	CTCF	chr7:125680240-125680390	GM12871	blood:	n/a	n/a
39	CTCF	chr7:125631281-125631344	GM10248	blood:	n/a	n/a
40	CTCF	chr7:125681672-125681830	H1-hESC	embryonic stem cell:	n/a	n/a
41	E2F4	chr7:125656340-125656341	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr7:125722605-125722839	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr7:125690946-125691171	MCF10A-Er-Src	breast:	n/a	n/a
44	E2F4	chr7:125628064-125628131	MCF10A-Er-Src	breast:	n/a	n/a
45	EBF1	chr7:125672557-125672692	GM12878	blood:	n/a	chr7:125672650-125672661 chr7:125672651-125672660
46	EBF1	chr7:125719744-125719941	GM12878	blood:	n/a	n/a
47	EBF1	chr7:125642726-125642781	GM12878	blood:	n/a	chr7:125642748-125642758 chr7:125642749-125642758 chr7:125642747-125642760 chr7:125642748-125642759
48	EP300	chr7:125666700-125667295	ECC-1	luminal epithelium:	n/a	chr7:125667286-125667295 chr7:125666801-125666811
49	EP300	chr7:125692187-125692615	SK-N-SH_RA	brain:	n/a	n/a
50	EP300	chr7:125719345-125719353	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
2	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
3	chr1:11968074..11970490-chr7:125663203..125664731,2	MCF-7	breast:
4	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
5	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:

Variant related genes	Relation type
ENSG00000221418	TF binding region
ENSG00000199347	chromatin interactions
ENSG00000201801	chromatin interactions

Extended variants
information (count: 3501 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:3501 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553743778	chr7:125625697-125625698	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57212847	chr7:125625698-125625699	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs183626149	chr7:125625715-125625716	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550932790	chr7:125625728-125625729	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111541170	chr7:125625730-125625731	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs118182631	chr7:125625731-125625732	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377514306	chr7:125625771-125625772	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370963335	chr7:125625805-125625806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564032282	chr7:125625809-125625810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12530693	chr7:125625843-125625844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546160180	chr7:125625846-125625847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543636610	chr7:125625864-125625865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564912499	chr7:125625911-125625912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189157668	chr7:125625920-125625921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143075433	chr7:125625932-125625933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114368386	chr7:125626023-125626024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60474750	chr7:125626039-125626040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs201460816	chr7:125626098-125626099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369848354	chr7:125626099-125626100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72126517	chr7:125626101-125626102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398111841	chr7:125626108-125626109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181911972	chr7:125626155-125626156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116486735	chr7:125626156-125626157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375374918	chr7:125626179-125626180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115996528	chr7:125626230-125626231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185753402	chr7:125626235-125626236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528614132	chr7:125626238-125626239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535335197	chr7:125626248-125626249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564084909	chr7:125626259-125626260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190100128	chr7:125626303-125626304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1345219	chr7:125626307-125626308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs370554652	chr7:125626318-125626319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139231481	chr7:125626328-125626329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77716924	chr7:125626346-125626347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558623146	chr7:125626363-125626364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543125582	chr7:125626436-125626437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576656658	chr7:125626441-125626442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149980852	chr7:125626447-125626448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145432847	chr7:125626456-125626457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181235247	chr7:125626459-125626460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139419180	chr7:125626463-125626464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186509243	chr7:125626481-125626482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529998415	chr7:125626499-125626500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191022466	chr7:125626517-125626518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367949272	chr7:125626552-125626553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528049135	chr7:125626588-125626589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538038017	chr7:125626603-125626604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570038329	chr7:125626612-125626613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182359622	chr7:125626615-125626616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140169254	chr7:125626648-125626649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:152 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125621800-125626000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:125622000-125644600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:125624000-125627600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:125625200-125625800	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr7:125625200-125625800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:125625600-125632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:125625800-125636800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:125625800-125637400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:125636800-125637200	Genic enhancers	H9 Cell Line	embryonic stem cell
10	chr7:125637200-125641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:125637200-125645200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:125637400-125637600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:125640000-125640200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:125640200-125641200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:125641000-125641400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:125641000-125641600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:125641000-125642000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:125641000-125642200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr7:125641000-125642400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:125641200-125643000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:125641200-125643200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:125641400-125641800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:125641400-125642000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr7:125641400-125642400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:125641600-125642000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:125641600-125642600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:125641800-125642000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:125642000-125642400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:125642000-125646200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:125642000-125646600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:125642200-125642600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:125642200-125642600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:125642400-125642800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:125642600-125642800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:125642600-125642800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:125642600-125653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:125642800-125646000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:125643000-125650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:125643200-125657400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:125643400-125667000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr7:125644600-125646400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:125645200-125645800	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr7:125645800-125647600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:125646000-125646800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr7:125646200-125648200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:125646400-125687000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:125646800-125647000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:125647600-125649200	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr7:125648400-125649600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:125649200-125651600	Weak transcription	H9 Cell Line	embryonic stem cell

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