Variant report

Variant	nsv518344
Chromosome Location	chr7:125644656-125730694
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	chr7:125654834-125655110	IMR90	lung:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
5	CEBPB	chr7:125719727-125720031	HepG2	liver:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
6	CEBPB	chr7:125719752-125720054	IMR90	lung:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
7	CEBPB	chr7:125677488-125677754	HepG2	liver:	n/a	chr7:125677605-125677616
8	CEBPB	chr7:125699528-125699779	IMR90	lung:	n/a	n/a
9	CEBPB	chr7:125654878-125655143	Hela-S3	cervix:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
10	CEBPB	chr7:125654905-125655125	HepG2	liver:	n/a	chr7:125654981-125654994
11	CEBPB	chr7:125654844-125655083	H1-hESC	embryonic stem cell:	n/a	chr7:125654981-125654994 chr7:125654881-125654892 chr7:125654881-125654892
12	CEBPB	chr7:125719721-125720047	H1-hESC	embryonic stem cell:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
13	CEBPB	chr7:125700034-125700243	HepG2	liver:	n/a	chr7:125700115-125700126 chr7:125700113-125700126 chr7:125700115-125700126 chr7:125700113-125700124 chr7:125700113-125700126
14	CEBPB	chr7:125694384-125694663	HepG2	liver:	n/a	chr7:125694534-125694545
15	CTCF	chr7:125681770-125681774	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:125681672-125681830	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr7:125659070-125659096	GM20000	blood:	n/a	n/a
18	CTCF	chr7:125681620-125681770	NHEK	skin:	n/a	n/a
19	CTCF	chr7:125664295-125664343	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr7:125681722-125681822	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:125680520-125680670	GM12875	blood:	n/a	n/a
22	CTCF	chr7:125681745-125681860	GM19239	blood:	n/a	n/a
23	CTCF	chr7:125681620-125681770	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:125684220-125684272	GM20000	blood:	n/a	n/a
25	CTCF	chr7:125681680-125681830	HEK293	kidney:	n/a	n/a
26	CTCF	chr7:125673993-125674045	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:125680240-125680390	GM12871	blood:	n/a	n/a
28	CTCF	chr7:125681710-125681784	GM12891	blood:	n/a	n/a
29	CTCF	chr7:125681776-125681789	MCF-7	breast:	n/a	n/a
30	CTCF	chr7:125681756-125681769	MCF-7	breast:	n/a	n/a
31	CTCF	chr7:125656924-125656949	Lung_OC	lung:	n/a	n/a
32	CTCF	chr7:125681723-125681839	MCF-7	breast:	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	E2F4	chr7:125656340-125656341	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chr7:125672557-125672692	GM12878	blood:	n/a	chr7:125672650-125672661 chr7:125672651-125672660
37	EBF1	chr7:125719744-125719941	GM12878	blood:	n/a	n/a
38	EP300	chr7:125666700-125667295	ECC-1	luminal epithelium:	n/a	chr7:125667286-125667295 chr7:125666801-125666811
39	EP300	chr7:125719345-125719353	GM12878	blood:	n/a	n/a
40	EP300	chr7:125692187-125692615	SK-N-SH_RA	brain:	n/a	n/a
41	EP300	chr7:125678495-125678645	K562	blood:	n/a	n/a
42	EP300	chr7:125666467-125667408	ECC-1	luminal epithelium:	n/a	chr7:125667286-125667295 chr7:125666632-125666639 chr7:125666801-125666811 chr7:125667288-125667302
43	EP300	chr7:125662587-125662708	GM12878	blood:	n/a	n/a
44	EP300	chr7:125691789-125693283	SK-N-SH	brain:	n/a	n/a
45	EP300	chr7:125718609-125718635	K562	blood:	n/a	n/a
46	EP300	chr7:125670112-125670121	K562	blood:	n/a	n/a
47	EP300	chr7:125723511-125723624	K562	blood:	n/a	chr7:125723571-125723580 chr7:125723570-125723579
48	ESR1	chr7:125666741-125667231	ECC-1	luminal epithelium:	n/a	n/a
49	ESR1	chr7:125666604-125667279	ECC-1	luminal epithelium:	n/a	n/a
50	ESR1	chr7:125666542-125667283	ECC-1	luminal epithelium:	n/a	n/a

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

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

Extended variants
information (count: 2536 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2536 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1419540	chr7:125644656-125644657	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537448055	chr7:125644660-125644661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151234518	chr7:125644691-125644692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577305905	chr7:125644692-125644693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1419541	chr7:125644704-125644705	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553904605	chr7:125644715-125644716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575483698	chr7:125644727-125644728	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548827166	chr7:125644761-125644762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6952998	chr7:125644769-125644770	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139188424	chr7:125644797-125644798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561241643	chr7:125644824-125644825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144115448	chr7:125644834-125644835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57598547	chr7:125644841-125644842	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs13239931	chr7:125644845-125644846	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13239934	chr7:125644862-125644863	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs146477538	chr7:125644865-125644866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547692879	chr7:125644887-125644888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116545959	chr7:125644888-125644889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530334818	chr7:125644989-125644990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369180712	chr7:125645038-125645039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140624196	chr7:125645039-125645040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537484914	chr7:125645048-125645049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144245708	chr7:125645128-125645129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571033430	chr7:125645129-125645130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538681702	chr7:125645146-125645147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372993517	chr7:125645165-125645166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145200568	chr7:125645171-125645172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1419542	chr7:125645175-125645176	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs542455890	chr7:125645207-125645208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75707560	chr7:125645235-125645236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374222950	chr7:125645239-125645240	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185365557	chr7:125645242-125645243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149150331	chr7:125645260-125645261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565248456	chr7:125645263-125645264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532499481	chr7:125645265-125645266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541472596	chr7:125645268-125645269	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374230021	chr7:125645279-125645280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536846489	chr7:125645309-125645310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143225210	chr7:125645326-125645327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530349244	chr7:125645332-125645333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190910243	chr7:125645360-125645361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570032712	chr7:125645373-125645374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531084341	chr7:125645388-125645389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183498532	chr7:125645399-125645400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554916979	chr7:125645417-125645418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531128969	chr7:125645480-125645481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79134618	chr7:125645484-125645485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538247701	chr7:125645518-125645519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547517959	chr7:125645585-125645586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565615862	chr7:125645637-125645638	Weak transcription Strong 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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125637200-125645200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:125642000-125646200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:125642000-125646600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:125642600-125653800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:125642800-125646000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:125643000-125650600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:125643200-125657400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:125643400-125667000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:125644600-125646400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:125645200-125645800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr7:125645800-125647600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:125646000-125646800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:125646200-125648200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:125646400-125687000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:125646800-125647000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:125647600-125649200	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr7:125648400-125649600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:125649200-125651600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:125650600-125650800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:125650800-125651200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:125651200-125651800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:125651600-125651800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:125651600-125654600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr7:125651800-125653600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:125651800-125667000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:125653600-125654200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:125654600-125680600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:125656600-125657000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:125665800-125666000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:125666000-125666600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:125666000-125667400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:125666400-125667400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:125666600-125667200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:125666600-125667200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr7:125666600-125667400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:125666600-125667400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:125666600-125667400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr7:125666600-125667400	Enhancers	Fetal Kidney	kidney
39	chr7:125666800-125667200	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:125666800-125667200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:125666800-125667400	Enhancers	Hela-S3	cervix
42	chr7:125667000-125667200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:125667200-125667800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:125667400-125668800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:125667800-125676600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:125668800-125669000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:125669000-125669200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:125674400-125674800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:125674400-125674800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr7:125674600-125675000	Enhancers	HUES48 Cell Line	embryonic stem cell

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