Variant report

Variant	nsv1025235
Chromosome Location	chr7:125579744-125688056
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	BRCA1	chr7:125661964-125662015	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:125603367-125603565	K562	blood:	n/a	chr7:125603411-125603422
5	CEBPB	chr7:125588846-125589425	HepG2	liver:	n/a	chr7:125588880-125588891 chr7:125589282-125589293
6	CEBPB	chr7:125641111-125641392	HepG2	liver:	n/a	chr7:125641225-125641236
7	CEBPB	chr7:125654878-125655143	Hela-S3	cervix:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
8	CEBPB	chr7:125677488-125677754	HepG2	liver:	n/a	chr7:125677605-125677616
9	CEBPB	chr7:125586265-125586333	K562	blood:	n/a	chr7:125586287-125586298 chr7:125586287-125586296
10	CEBPB	chr7:125654834-125655110	IMR90	lung:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
11	CEBPB	chr7:125628748-125628924	A549	lung:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
12	CEBPB	chr7:125628636-125628960	HepG2	liver:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
13	CEBPB	chr7:125654844-125655083	H1-hESC	embryonic stem cell:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
14	CEBPB	chr7:125586220-125586477	A549	lung:	n/a	chr7:125586287-125586298 chr7:125586287-125586296
15	CEBPB	chr7:125603329-125603585	HepG2	liver:	n/a	chr7:125603411-125603422
16	CEBPB	chr7:125654905-125655125	HepG2	liver:	n/a	chr7:125654981-125654994
17	CEBPB	chr7:125603406-125603606	IMR90	lung:	n/a	chr7:125603411-125603422
18	CEBPB	chr7:125608121-125608318	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:125681722-125681822	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:125619300-125619450	BE2_C	brain:	n/a	n/a
21	CTCF	chr7:125624920-125625070	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr7:125631281-125631344	GM10248	blood:	n/a	n/a
23	CTCF	chr7:125624943-125625110	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr7:125619420-125619570	BE2_C	brain:	n/a	n/a
25	CTCF	chr7:125681620-125681770	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr7:125638988-125639158	GM12878	blood:	n/a	n/a
27	CTCF	chr7:125681723-125681839	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:125624885-125625253	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:125681710-125681784	GM12891	blood:	n/a	n/a
30	CTCF	chr7:125681770-125681774	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:125656924-125656949	Lung_OC	lung:	n/a	n/a
32	CTCF	chr7:125681745-125681860	GM19239	blood:	n/a	n/a
33	CTCF	chr7:125680520-125680670	GM12875	blood:	n/a	n/a
34	CTCF	chr7:125680240-125680390	GM12871	blood:	n/a	n/a
35	CTCF	chr7:125681756-125681769	MCF-7	breast:	n/a	n/a
36	CTCF	chr7:125609665-125609731	GM12878	blood:	n/a	chr7:125609702-125609723 chr7:125609705-125609713 chr7:125609700-125609718
37	CTCF	chr7:125659070-125659096	GM20000	blood:	n/a	n/a
38	CTCF	chr7:125619292-125619621	GM12878	blood:	n/a	n/a
39	CTCF	chr7:125681672-125681830	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr7:125609507-125609855	GM12878	blood:	n/a	chr7:125609702-125609723 chr7:125609705-125609713 chr7:125609700-125609718
41	CTCF	chr7:125624885-125625207	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr7:125681776-125681789	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:125681680-125681830	HEK293	kidney:	n/a	n/a
44	CTCF	chr7:125664295-125664343	Kidney_OC	kidney:	n/a	n/a
45	CTCF	chr7:125681620-125681770	NHEK	skin:	n/a	n/a
46	CTCF	chr7:125684220-125684272	GM20000	blood:	n/a	n/a
47	CTCF	chr7:125673993-125674045	LNCaP	prostate:	n/a	n/a
48	CTCF	chr7:125624900-125625050	WERI-Rb-1	eye:	n/a	n/a
49	E2F4	chr7:125628064-125628131	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr7:125584308-125584590	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
2	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
3	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
4	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
5	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
6	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
7	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
8	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
9	chr1:11968074..11970490-chr7:125663203..125664731,2	MCF-7	breast:

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

Extended variants
information (count: 4190 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4190 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541319442	chr7:125579788-125579789	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553713585	chr7:125579796-125579797	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541265297	chr7:125579807-125579808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542669940	chr7:125579849-125579850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199866462	chr7:125579850-125579851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560948487	chr7:125579878-125579879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190882150	chr7:125579917-125579918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543598122	chr7:125579926-125579927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564883792	chr7:125579955-125579956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532345758	chr7:125579980-125579981	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547338803	chr7:125580007-125580008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145297260	chr7:125580008-125580009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs137889631	chr7:125580019-125580020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142398087	chr7:125580049-125580050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569805897	chr7:125580094-125580095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370577180	chr7:125580129-125580130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143872468	chr7:125580141-125580142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148280859	chr7:125580150-125580151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528485962	chr7:125580156-125580157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117786475	chr7:125580163-125580164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373817467	chr7:125580170-125580171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184111561	chr7:125580197-125580198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575242080	chr7:125580234-125580235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141333220	chr7:125580236-125580237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112258154	chr7:125580254-125580255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188264042	chr7:125580261-125580262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193183913	chr7:125580281-125580282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs182925111	chr7:125580282-125580283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559502533	chr7:125580298-125580299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532180214	chr7:125580300-125580301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540856548	chr7:125580360-125580361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139635396	chr7:125580367-125580368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111605450	chr7:125580443-125580444	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187179649	chr7:125580495-125580496	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs367661547	chr7:125580535-125580536	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191690042	chr7:125580544-125580545	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569670809	chr7:125580557-125580558	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530945467	chr7:125580598-125580599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567879864	chr7:125580619-125580620	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372866759	chr7:125580620-125580621	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs552359050	chr7:125580642-125580643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536914692	chr7:125580658-125580659	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs200951059	chr7:125580683-125580684	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs553398145	chr7:125580696-125580697	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs369582722	chr7:125580702-125580703	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs572749590	chr7:125580707-125580708	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs116421906	chr7:125580732-125580733	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs6948631	chr7:125580752-125580753	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557695619	chr7:125580760-125580761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183484423	chr7:125580791-125580792	Weak transcription Strong transcription ZNF genes & repeats	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	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125567800-125581600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125568800-125581400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:125573600-125583200	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr7:125574000-125597400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:125575000-125581600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:125578600-125580400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:125578600-125581600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:125578800-125579800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
9	chr7:125579800-125581200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:125580400-125583200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr7:125581200-125583200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
12	chr7:125581600-125582200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr7:125581600-125582400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:125581600-125582800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
15	chr7:125582000-125583000	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr7:125582400-125596600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:125582800-125596400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:125583200-125584800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:125583200-125586800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:125583200-125596400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:125583600-125586000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:125584800-125587400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:125586800-125588000	Genic enhancers	H9 Cell Line	embryonic stem cell
24	chr7:125587200-125587800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:125587400-125590000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:125588000-125593400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:125590000-125595400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:125591600-125591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:125591800-125592000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:125593400-125595000	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr7:125593800-125596400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:125595000-125625000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:125595400-125596400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:125596400-125596800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr7:125596400-125597000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr7:125596400-125597000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr7:125596400-125597200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr7:125596600-125597200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:125596800-125623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:125597000-125599200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:125597000-125601200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:125597200-125601000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:125597200-125617400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:125599000-125599800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr7:125599200-125599600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:125599200-125599600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:125601400-125601600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr7:125613600-125617400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:125614600-125614800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:125614800-125615600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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