Variant report

Variant	nsv889168
Chromosome Location	chr7:125658470-125791900
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	BHLHE40	chr7:125720305-125720422	GM12878	blood:	n/a	n/a
2	BRCA1	chr7:125763163-125763299	GM12878	blood:	n/a	n/a
3	BRCA1	chr7:125661964-125662015	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:125719752-125720054	IMR90	lung:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
5	CEBPB	chr7:125677488-125677754	HepG2	liver:	n/a	chr7:125677605-125677616
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	chr7:125699528-125699779	IMR90	lung:	n/a	n/a
8	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
9	CEBPB	chr7:125700034-125700243	HepG2	liver:	n/a	chr7:125700115-125700126 chr7:125700113-125700126 chr7:125700115-125700126 chr7:125700113-125700124 chr7:125700113-125700126
10	CEBPB	chr7:125694384-125694663	HepG2	liver:	n/a	chr7:125694534-125694545
11	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
12	CEBPB	chr7:125719721-125720047	H1-hESC	embryonic stem cell:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
13	CEBPB	chr7:125719727-125720031	HepG2	liver:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
14	CTCF	chr7:125681723-125681839	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:125680240-125680390	GM12871	blood:	n/a	n/a
16	CTCF	chr7:125680520-125680670	GM12875	blood:	n/a	n/a
17	CTCF	chr7:125673993-125674045	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:125681756-125681769	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:125791857-125791956	Fibrobl	skin:	n/a	n/a
20	CTCF	chr7:125664295-125664343	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr7:125743320-125743470	AG09309	skin:	n/a	n/a
22	CTCF	chr7:125681710-125681784	GM12891	blood:	n/a	n/a
23	CTCF	chr7:125681722-125681822	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:125681620-125681770	NHEK	skin:	n/a	n/a
25	CTCF	chr7:125681745-125681860	GM19239	blood:	n/a	n/a
26	CTCF	chr7:125681672-125681830	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr7:125681776-125681789	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:125681620-125681770	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr7:125684220-125684272	GM20000	blood:	n/a	n/a
30	CTCF	chr7:125681770-125681774	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:125681680-125681830	HEK293	kidney:	n/a	n/a
32	CTCF	chr7:125659070-125659096	GM20000	blood:	n/a	n/a
33	E2F4	chr7:125690946-125691171	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr7:125722605-125722839	MCF10A-Er-Src	breast:	n/a	n/a
35	EBF1	chr7:125719744-125719941	GM12878	blood:	n/a	n/a
36	EBF1	chr7:125672557-125672692	GM12878	blood:	n/a	chr7:125672650-125672661 chr7:125672651-125672660
37	EP300	chr7:125670112-125670121	K562	blood:	n/a	n/a
38	EP300	chr7:125723511-125723624	K562	blood:	n/a	chr7:125723571-125723580 chr7:125723570-125723579
39	EP300	chr7:125666467-125667408	ECC-1	luminal epithelium:	n/a	chr7:125667286-125667295 chr7:125666632-125666639 chr7:125666801-125666811 chr7:125667288-125667302
40	EP300	chr7:125662587-125662708	GM12878	blood:	n/a	n/a
41	EP300	chr7:125719345-125719353	GM12878	blood:	n/a	n/a
42	EP300	chr7:125691789-125693283	SK-N-SH	brain:	n/a	n/a
43	EP300	chr7:125678495-125678645	K562	blood:	n/a	n/a
44	EP300	chr7:125784759-125784836	HepG2	liver:	n/a	n/a
45	EP300	chr7:125692187-125692615	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr7:125666700-125667295	ECC-1	luminal epithelium:	n/a	chr7:125667286-125667295 chr7:125666801-125666811
47	EP300	chr7:125743434-125744301	SK-N-SH	brain:	n/a	n/a
48	EP300	chr7:125718609-125718635	K562	blood:	n/a	n/a
49	ESR1	chr7:125666741-125667231	ECC-1	luminal epithelium:	n/a	n/a
50	ESR1	chr7:125666572-125667281	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:
2	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:
3	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
4	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:
5	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
6	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
7	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
8	chr1:11968074..11970490-chr7:125663203..125664731,2	MCF-7	breast:
9	chr3:64659748..64660652-chr7:125742703..125743269,2	MCF-7	breast:
10	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
11	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:

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

Extended variants
information (count: 2311 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:2311 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10487430	chr7:125658470-125658471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs62480065	chr7:125658485-125658486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141748568	chr7:125658490-125658491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537064637	chr7:125658496-125658497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187591040	chr7:125658514-125658515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191704651	chr7:125658516-125658517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16871585	chr7:125658519-125658520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553047566	chr7:125658532-125658533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4731284	chr7:125658605-125658606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs113635607	chr7:125658606-125658607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79251465	chr7:125658607-125658608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367759374	chr7:125658629-125658630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557388290	chr7:125658652-125658653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575867945	chr7:125658653-125658654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369711573	chr7:125658717-125658718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199903707	chr7:125658773-125658774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73720566	chr7:125658775-125658776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs564825298	chr7:125658781-125658782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576895465	chr7:125658789-125658790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139996918	chr7:125658796-125658797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376210091	chr7:125658842-125658843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529880544	chr7:125658845-125658846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10251003	chr7:125658846-125658847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556708264	chr7:125658854-125658855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563456269	chr7:125658920-125658921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530785507	chr7:125658930-125658931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184915620	chr7:125658973-125658974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570559306	chr7:125659036-125659037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372817425	chr7:125659053-125659054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189422759	chr7:125659086-125659087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35234344	chr7:125659140-125659141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs568509056	chr7:125659161-125659162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192515284	chr7:125659179-125659180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62480066	chr7:125659206-125659207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575861006	chr7:125659214-125659215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10281122	chr7:125659236-125659237	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10251554	chr7:125659256-125659257	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543258975	chr7:125659267-125659268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573056085	chr7:125659284-125659285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576940706	chr7:125659316-125659317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541010374	chr7:125659321-125659322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553118153	chr7:125659349-125659350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574444401	chr7:125659368-125659369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62480067	chr7:125659437-125659438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529183200	chr7:125659458-125659459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184496500	chr7:125659463-125659464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530615666	chr7:125659474-125659475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375774194	chr7:125659479-125659480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189178847	chr7:125659537-125659538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562131835	chr7:125659544-125659545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125643400-125667000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:125646400-125687000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:125651800-125667000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:125654600-125680600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:125665800-125666000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:125666000-125666600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:125666000-125667400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:125666400-125667400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:125666600-125667200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:125666600-125667200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:125666600-125667400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:125666600-125667400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:125666600-125667400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:125666600-125667400	Enhancers	Fetal Kidney	kidney
15	chr7:125666800-125667200	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:125666800-125667200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:125666800-125667400	Enhancers	Hela-S3	cervix
18	chr7:125667000-125667200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:125667200-125667800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:125667400-125668800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:125667800-125676600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:125668800-125669000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:125669000-125669200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:125674400-125674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:125674400-125674800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:125674600-125675000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:125676600-125676800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:125676600-125680200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:125676800-125678400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:125680200-125680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:125680200-125681200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:125680200-125681800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:125680400-125680600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:125680400-125680600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:125680400-125680800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr7:125680400-125680800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:125680400-125680800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:125680400-125682000	ZNF genes & repeats	Pancreas	Pancrea
39	chr7:125680600-125681200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:125680600-125682000	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr7:125680800-125681400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:125681200-125681600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:125681200-125684200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:125681400-125684200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:125681400-125697600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:125681600-125682000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:125681800-125690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:125682000-125686000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:125682000-125696600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:125683800-125685800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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