Variant report

Variant	nsv889172
Chromosome Location	chr7:125676925-125730694
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	BHLHE40	chr7:125720305-125720422	GM12878	blood:	n/a	n/a
2	CEBPB	chr7:125719721-125720047	H1-hESC	embryonic stem cell:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
3	CEBPB	chr7:125677488-125677754	HepG2	liver:	n/a	chr7:125677605-125677616
4	CEBPB	chr7:125694384-125694663	HepG2	liver:	n/a	chr7:125694534-125694545
5	CEBPB	chr7:125699528-125699779	IMR90	lung:	n/a	n/a
6	CEBPB	chr7:125719727-125720031	HepG2	liver:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
7	CEBPB	chr7:125700034-125700243	HepG2	liver:	n/a	chr7:125700115-125700126 chr7:125700113-125700126 chr7:125700115-125700126 chr7:125700113-125700124 chr7:125700113-125700126
8	CEBPB	chr7:125719752-125720054	IMR90	lung:	n/a	chr7:125719898-125719909 chr7:125719900-125719911 chr7:125719898-125719911
9	CTCF	chr7:125681722-125681822	MCF-7	breast:	n/a	n/a
10	CTCF	chr7:125681680-125681830	HEK293	kidney:	n/a	n/a
11	CTCF	chr7:125681723-125681839	MCF-7	breast:	n/a	n/a
12	CTCF	chr7:125681756-125681769	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:125681672-125681830	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:125680520-125680670	GM12875	blood:	n/a	n/a
15	CTCF	chr7:125681776-125681789	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:125680240-125680390	GM12871	blood:	n/a	n/a
17	CTCF	chr7:125681710-125681784	GM12891	blood:	n/a	n/a
18	CTCF	chr7:125681620-125681770	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr7:125681745-125681860	GM19239	blood:	n/a	n/a
20	CTCF	chr7:125681770-125681774	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:125684220-125684272	GM20000	blood:	n/a	n/a
22	CTCF	chr7:125681620-125681770	NHEK	skin:	n/a	n/a
23	E2F4	chr7:125722605-125722839	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr7:125690946-125691171	MCF10A-Er-Src	breast:	n/a	n/a
25	EBF1	chr7:125719744-125719941	GM12878	blood:	n/a	n/a
26	EP300	chr7:125718609-125718635	K562	blood:	n/a	n/a
27	EP300	chr7:125692187-125692615	SK-N-SH_RA	brain:	n/a	n/a
28	EP300	chr7:125678495-125678645	K562	blood:	n/a	n/a
29	EP300	chr7:125719345-125719353	GM12878	blood:	n/a	n/a
30	EP300	chr7:125691789-125693283	SK-N-SH	brain:	n/a	n/a
31	EP300	chr7:125723511-125723624	K562	blood:	n/a	chr7:125723571-125723580 chr7:125723570-125723579
32	FOS	chr7:125719834-125719921	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:125683330-125683577	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:125719754-125720010	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr7:125692036-125692352	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr7:125692022-125692357	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr7:125692026-125692343	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr7:125677507-125677762	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr7:125692043-125692276	MCF10A-Er-Src	breast:	n/a	n/a
40	GATA2	chr7:125692113-125692842	SH-SY5Y	brain:	n/a	n/a
41	GATA3	chr7:125679004-125679189	SH-SY5Y	brain:	n/a	n/a
42	GATA3	chr7:125694376-125694606	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr7:125710384-125710503	SH-SY5Y	brain:	n/a	n/a
44	GATA3	chr7:125701016-125701036	SH-SY5Y	brain:	n/a	n/a
45	GATA3	chr7:125725257-125725438	SH-SY5Y	brain:	n/a	chr7:125725271-125725292 chr7:125725278-125725285 chr7:125725273-125725289 chr7:125725278-125725285 chr7:125725267-125725284 chr7:125725276-125725286 chr7:125725278-125725285
46	GATA3	chr7:125692134-125692795	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr7:125679404-125679417	SH-SY5Y	brain:	n/a	n/a
48	JUN	chr7:125723096-125723398	HepG2	liver:	n/a	chr7:125723243-125723256
49	JUN	chr7:125689557-125689647	HepG2	liver:	n/a	chr7:125689603-125689616 chr7:125689604-125689613
50	JUND	chr7:125689505-125689651	HepG2	liver:	n/a	chr7:125689604-125689613

No.	Distal block	Cell Line	Cell type
1	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
2	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
3	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:

Variant related genes	Relation type
ENSG00000221418	TF binding region

Extended variants
information (count: 1308 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1308 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1419535	chr7:125676925-125676926	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202134423	chr7:125677003-125677004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11393767	chr7:125677006-125677007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397806708	chr7:125677019-125677020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560257868	chr7:125677121-125677122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527507569	chr7:125677138-125677139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371378521	chr7:125677140-125677141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1419536	chr7:125677147-125677148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531677088	chr7:125677164-125677165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187554465	chr7:125677188-125677189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549782913	chr7:125677221-125677222	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs76597583	chr7:125677235-125677236	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190466992	chr7:125677332-125677333	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs34133696	chr7:125677334-125677335	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs547890819	chr7:125677408-125677409	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs143120056	chr7:125677412-125677413	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs183037638	chr7:125677464-125677465	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs146587354	chr7:125677479-125677480	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs188435166	chr7:125677498-125677499	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569914029	chr7:125677532-125677533	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs115815913	chr7:125677572-125677573	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs558971549	chr7:125677611-125677612	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558374172	chr7:125677684-125677685	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs192662622	chr7:125677719-125677720	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs184598019	chr7:125677733-125677734	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs10227113	chr7:125677793-125677794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs573611320	chr7:125677806-125677807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561092588	chr7:125677808-125677809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576138737	chr7:125677821-125677822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386717576	chr7:125677892-125677893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10256645	chr7:125677898-125677899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs115846501	chr7:125677903-125677904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187512630	chr7:125677920-125677921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10256774	chr7:125678002-125678003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559311794	chr7:125678066-125678067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192567861	chr7:125678076-125678077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184553336	chr7:125678082-125678083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570264966	chr7:125678095-125678096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79125256	chr7:125678102-125678103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34329449	chr7:125678215-125678216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs571013225	chr7:125678218-125678219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112207337	chr7:125678235-125678236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188949518	chr7:125678267-125678268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181693645	chr7:125678293-125678294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145011562	chr7:125678302-125678303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541920986	chr7:125678329-125678330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536384963	chr7:125678330-125678331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138788121	chr7:125678367-125678368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10275930	chr7:125678386-125678387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543206578	chr7:125678500-125678501	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125646400-125687000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:125654600-125680600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:125676600-125680200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:125676800-125678400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:125680200-125680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:125680200-125681200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:125680200-125681800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:125680400-125680600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:125680400-125680600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:125680400-125680800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:125680400-125680800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:125680400-125680800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:125680400-125682000	ZNF genes & repeats	Pancreas	Pancrea
14	chr7:125680600-125681200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:125680600-125682000	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr7:125680800-125681400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:125681200-125681600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:125681200-125684200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:125681400-125684200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:125681400-125697600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:125681600-125682000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:125681800-125690600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:125682000-125686000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr7:125682000-125696600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:125683800-125685800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:125684200-125685000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:125684200-125685400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:125684200-125685600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:125684400-125685600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:125684800-125685400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:125686000-125686200	Enhancers	H9 Cell Line	embryonic stem cell
32	chr7:125687000-125687200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr7:125712600-125713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:125716800-125717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:125717000-125717200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:125717800-125724200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:125719000-125719400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:125719000-125719600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:125719000-125719800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:125719000-125720000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr7:125719200-125719400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr7:125719200-125720200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr7:125719400-125719600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr7:125719400-125724400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:125719400-125731800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:125719600-125724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:125719600-125726000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:125724200-125724800	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr7:125724400-125725600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr7:125724600-125726200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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