Variant report

Variant	nsv971220
Chromosome Location	chr7:136508557-136535847
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	CEBPB	chr7:136528025-136528200	A549	lung:	n/a	n/a
2	CEBPB	chr7:136522409-136522609	A549	lung:	n/a	chr7:136522530-136522541
3	CEBPB	chr7:136522367-136522655	HepG2	liver:	n/a	chr7:136522530-136522541
4	CEBPB	chr7:136515730-136515795	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr7:136513566-136513787	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr7:136509160-136509310	GM12874	blood:	n/a	n/a
7	EP300	chr7:136515555-136515602	GM12878	blood:	n/a	n/a
8	FOXA2	chr7:136516065-136516755	A549	lung:	n/a	n/a
9	FOXA2	chr7:136516136-136516696	A549	lung:	n/a	n/a
10	GATA3	chr7:136532331-136532344	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr7:136509795-136510296	SH-SY5Y	brain:	n/a	chr7:136509967-136509976
12	JUND	chr7:136512850-136513030	HepG2	liver:	n/a	chr7:136512920-136512927 chr7:136512918-136512929 chr7:136512923-136512930 chr7:136512920-136512928
13	NFYB	chr7:136529293-136529482	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:136528292-136528297	IMR90	lung:	n/a	n/a
15	POLR2A	chr7:136515844-136516507	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:136524295-136524302	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:136516305-136516392	ProgFib	skin:	n/a	n/a
18	POLR2A	chr7:136516160-136516412	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr7:136509973-136510173	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr7:136516291-136516386	MCF-7	breast:	n/a	n/a
21	POLR2A	chr7:136516232-136516396	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:136534893-136534966	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr7:136528287-136528392	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr7:136523769-136524013	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr7:136513593-136513918	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr7:136513543-136513971	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr7:136513537-136514007	H1-hESC	embryonic stem cell:	n/a	n/a
28	SETDB1	chr7:136523842-136524196	U2OS	brain:	n/a	n/a
29	SPI1	chr7:136530660-136531041	HL-60	blood:	n/a	n/a
30	SPI1	chr7:136516838-136516957	K562	blood:	n/a	n/a
31	STAT3	chr7:136526372-136526572	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr7:136535082-136535089	MCF10A-Er-Src	breast:	n/a	n/a
33	TAF1	chr7:136516159-136516434	H1-hESC	embryonic stem cell:	n/a	n/a
34	TAF1	chr7:136516126-136516448	H1-hESC	embryonic stem cell:	n/a	n/a
35	USF1	chr7:136521021-136521129	HepG2	liver:	n/a	n/a
36	USF2	chr7:136527720-136527735	HepG2	liver:	n/a	n/a
37	YY1	chr7:136516260-136516430	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000238488	TF binding region

Extended variants
information (count: 169 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:169 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532313335	chr7:136508568-136508569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537968079	chr7:136508569-136508570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185185205	chr7:136508580-136508581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148685850	chr7:136508595-136508596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143403691	chr7:136508626-136508627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576608050	chr7:136508627-136508628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs58996557	chr7:136508643-136508644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374368460	chr7:136508644-136508645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs398067320	chr7:136508652-136508653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545554083	chr7:136508721-136508722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537583335	chr7:136508749-136508750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565258276	chr7:136508751-136508752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548274837	chr7:136508787-136508788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146724074	chr7:136508793-136508794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112994335	chr7:136508800-136508801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12538140	chr7:136508806-136508807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73443599	chr7:136508820-136508821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530269564	chr7:136508834-136508835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139211563	chr7:136508835-136508836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75216258	chr7:136508925-136508926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533561742	chr7:136508974-136508975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181141483	chr7:136509076-136509077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532059015	chr7:136509096-136509097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76958327	chr7:136509100-136509101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565306994	chr7:136509149-136509150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573232894	chr7:136509181-136509182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534330586	chr7:136509187-136509188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs554807827	chr7:136509191-136509192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79293942	chr7:136509195-136509196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185998514	chr7:136509199-136509200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556863578	chr7:136509212-136509213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553785306	chr7:136509229-136509230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577138257	chr7:136509267-136509268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545491148	chr7:136509288-136509289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76709018	chr7:136509317-136509318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201997305	chr7:136509354-136509355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374253751	chr7:136509360-136509361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62730460	chr7:136509361-136509362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74951796	chr7:136509365-136509366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199568920	chr7:136509367-136509368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572432295	chr7:136509398-136509399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117549247	chr7:136515632-136515633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532771922	chr7:136515643-136515644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530245025	chr7:136515644-136515645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs79771561	chr7:136515680-136515681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs569550016	chr7:136515681-136515682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs569411495	chr7:136515710-136515711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs6970010	chr7:136515717-136515718	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs114037490	chr7:136515721-136515722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs187631929	chr7:136515722-136515723	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
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
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Low-grade fibromyxoid sarcoma	21536545	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136508200-136509400	Enhancers	Fetal Heart	heart
2	chr7:136515600-136516000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:136515600-136516400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:136515600-136516400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr7:136515800-136516400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:136515800-136516400	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:136515800-136516400	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:136515800-136516400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:136516000-136516400	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:136516000-136516400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:136516200-136516400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:136529000-136529600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:136530400-136530800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:136530800-136531000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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