Variant report

Variant	nsv1032930
Chromosome Location	chr7:125602535-125778020
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	ATF2	chr7:125606321-125606646	GM12878	blood:	n/a	n/a
2	BATF	chr7:125656888-125657086	GM12878	blood:	n/a	chr7:125657018-125657029 chr7:125657002-125657013
3	BHLHE40	chr7:125720305-125720422	GM12878	blood:	n/a	n/a
4	BRCA1	chr7:125763163-125763299	GM12878	blood:	n/a	n/a
5	BRCA1	chr7:125661964-125662015	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr7:125641111-125641392	HepG2	liver:	n/a	chr7:125641225-125641236
7	CEBPB	chr7:125603406-125603606	IMR90	lung:	n/a	chr7:125603411-125603422
8	CEBPB	chr7:125677488-125677754	HepG2	liver:	n/a	chr7:125677605-125677616
9	CEBPB	chr7:125628636-125628960	HepG2	liver:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
10	CEBPB	chr7:125694384-125694663	HepG2	liver:	n/a	chr7:125694534-125694545
11	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
12	CEBPB	chr7:125654834-125655110	IMR90	lung:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
13	CEBPB	chr7:125628748-125628924	A549	lung:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
14	CEBPB	chr7:125719752-125720054	IMR90	lung:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
15	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
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	chr7:125654878-125655143	Hela-S3	cervix:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
18	CEBPB	chr7:125654844-125655083	H1-hESC	embryonic stem cell:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
19	CEBPB	chr7:125654905-125655125	HepG2	liver:	n/a	chr7:125654981-125654994
20	CEBPB	chr7:125699528-125699779	IMR90	lung:	n/a	n/a
21	CEBPB	chr7:125603367-125603565	K562	blood:	n/a	chr7:125603411-125603422
22	CEBPB	chr7:125700034-125700243	HepG2	liver:	n/a	chr7:125700115-125700126 chr7:125700113-125700126 chr7:125700115-125700126 chr7:125700113-125700124 chr7:125700113-125700126
23	CEBPB	chr7:125608121-125608318	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr7:125719721-125720047	H1-hESC	embryonic stem cell:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
25	CEBPB	chr7:125719727-125720031	HepG2	liver:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
26	CEBPB	chr7:125603329-125603585	HepG2	liver:	n/a	chr7:125603411-125603422
27	CTCF	chr7:125624900-125625050	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr7:125681710-125681784	GM12891	blood:	n/a	n/a
29	CTCF	chr7:125656924-125656949	Lung_OC	lung:	n/a	n/a
30	CTCF	chr7:125619420-125619570	BE2_C	brain:	n/a	n/a
31	CTCF	chr7:125638988-125639158	GM12878	blood:	n/a	n/a
32	CTCF	chr7:125681722-125681822	MCF-7	breast:	n/a	n/a
33	CTCF	chr7:125673993-125674045	LNCaP	prostate:	n/a	n/a
34	CTCF	chr7:125681620-125681770	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr7:125681745-125681860	GM19239	blood:	n/a	n/a
36	CTCF	chr7:125631281-125631344	GM10248	blood:	n/a	n/a
37	CTCF	chr7:125681723-125681839	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:125680240-125680390	GM12871	blood:	n/a	n/a
39	CTCF	chr7:125681620-125681770	NHEK	skin:	n/a	n/a
40	CTCF	chr7:125664295-125664343	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr7:125659070-125659096	GM20000	blood:	n/a	n/a
42	CTCF	chr7:125684220-125684272	GM20000	blood:	n/a	n/a
43	CTCF	chr7:125681770-125681774	MCF-7	breast:	n/a	n/a
44	CTCF	chr7:125609507-125609855	GM12878	blood:	n/a	chr7:125609702-125609723 chr7:125609705-125609713 chr7:125609700-125609718
45	CTCF	chr7:125680520-125680670	GM12875	blood:	n/a	n/a
46	CTCF	chr7:125624885-125625253	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr7:125609665-125609731	GM12878	blood:	n/a	chr7:125609702-125609723 chr7:125609705-125609713 chr7:125609700-125609718
48	CTCF	chr7:125624920-125625070	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr7:125624885-125625207	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr7:125681776-125681789	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
2	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
3	chr3:64659748..64660652-chr7:125742703..125743269,2	MCF-7	breast:
4	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
5	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
6	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
7	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:
8	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
9	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
10	chr1:11968074..11970490-chr7:125663203..125664731,2	MCF-7	breast:
11	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
12	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:

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

Extended variants
information (count: 4400 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:4400 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567847339	chr7:125602556-125602557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1592392	chr7:125602581-125602582	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147292668	chr7:125602704-125602705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140439050	chr7:125602706-125602707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4397338	chr7:125602729-125602730	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562765058	chr7:125602780-125602781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533178895	chr7:125602789-125602790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73235411	chr7:125602793-125602794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs10258986	chr7:125602794-125602795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566745061	chr7:125602805-125602806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538304321	chr7:125602812-125602813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534059057	chr7:125602846-125602847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79054194	chr7:125602922-125602923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556417466	chr7:125602944-125602945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs33937998	chr7:125602945-125602946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567538986	chr7:125602980-125602981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112463660	chr7:125603001-125603002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182368389	chr7:125603019-125603020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369993607	chr7:125603031-125603032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556588238	chr7:125603036-125603037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13240817	chr7:125603040-125603041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187910808	chr7:125603047-125603048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578161485	chr7:125603069-125603070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538959320	chr7:125603080-125603081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2079065	chr7:125603114-125603115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572854692	chr7:125603122-125603123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369801898	chr7:125603147-125603148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562261392	chr7:125603185-125603186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561731731	chr7:125603210-125603211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573890849	chr7:125603232-125603233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193042702	chr7:125603240-125603241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544377699	chr7:125603241-125603242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562541366	chr7:125603272-125603273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144706678	chr7:125603274-125603275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199545533	chr7:125603294-125603295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185790597	chr7:125603314-125603315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544069460	chr7:125603344-125603345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544956606	chr7:125603347-125603348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6948211	chr7:125603359-125603360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs527648269	chr7:125603445-125603446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11764215	chr7:125603448-125603449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs6948234	chr7:125603457-125603458	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs187457945	chr7:125603458-125603459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148390732	chr7:125603490-125603491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550394710	chr7:125603512-125603513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559750489	chr7:125603646-125603647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571738391	chr7:125603666-125603667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142700669	chr7:125603769-125603770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11764312	chr7:125603775-125603776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566490387	chr7:125603798-125603799	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:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125595000-125625000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:125596800-125623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:125597200-125617400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:125613600-125617400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:125614600-125614800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:125614800-125615600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:125615600-125615800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:125615600-125620400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:125615800-125617400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:125617400-125617600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:125617400-125617600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:125617400-125617600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:125617400-125618000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr7:125617600-125625000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:125617600-125625000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:125618000-125621600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:125619000-125620600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:125620600-125621800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr7:125621600-125622000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
20	chr7:125621800-125626000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:125622000-125644600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:125624000-125627600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:125625000-125625200	Genic enhancers	H9 Cell Line	embryonic stem cell
24	chr7:125625000-125625200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:125625000-125625600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:125625200-125625800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr7:125625200-125625800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr7:125625600-125632200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:125625800-125636800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:125625800-125637400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:125636800-125637200	Genic enhancers	H9 Cell Line	embryonic stem cell
32	chr7:125637200-125641200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:125637200-125645200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:125637400-125637600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:125640000-125640200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:125640200-125641200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:125641000-125641400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:125641000-125641600	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr7:125641000-125642000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:125641000-125642200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:125641000-125642400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:125641200-125643000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:125641200-125643200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr7:125641400-125641800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:125641400-125642000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr7:125641400-125642400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:125641600-125642000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:125641600-125642600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr7:125641800-125642000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:125642000-125642400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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