Variant report

Variant	esv1848748
Chromosome Location	chr7:136512449-136534763
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	chr7:136515730-136515795	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr7:136522367-136522655	HepG2	liver:	n/a	chr7:136522530-136522541
3	CEBPB	chr7:136528025-136528200	A549	lung:	n/a	n/a
4	CEBPB	chr7:136522409-136522609	A549	lung:	n/a	chr7:136522530-136522541
5	CTCF	chr7:136513566-136513787	H1-hESC	embryonic stem cell:	n/a	n/a
6	EP300	chr7:136515555-136515602	GM12878	blood:	n/a	n/a
7	FOXA2	chr7:136516136-136516696	A549	lung:	n/a	n/a
8	FOXA2	chr7:136516065-136516755	A549	lung:	n/a	n/a
9	GATA3	chr7:136532331-136532344	SH-SY5Y	brain:	n/a	n/a
10	JUND	chr7:136512850-136513030	HepG2	liver:	n/a	chr7:136512920-136512927 chr7:136512918-136512929 chr7:136512923-136512930 chr7:136512920-136512928
11	NFYB	chr7:136529293-136529482	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:136524295-136524302	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:136516160-136516412	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:136515844-136516507	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr7:136516291-136516386	MCF-7	breast:	n/a	n/a
16	POLR2A	chr7:136523769-136524013	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr7:136528287-136528392	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr7:136516305-136516392	ProgFib	skin:	n/a	n/a
19	POLR2A	chr7:136516232-136516396	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:136528292-136528297	IMR90	lung:	n/a	n/a
21	RAD21	chr7:136513543-136513971	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr7:136513537-136514007	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr7:136513593-136513918	H1-hESC	embryonic stem cell:	n/a	n/a
24	SETDB1	chr7:136523842-136524196	U2OS	brain:	n/a	n/a
25	SPI1	chr7:136516838-136516957	K562	blood:	n/a	n/a
26	SPI1	chr7:136530660-136531041	HL-60	blood:	n/a	n/a
27	STAT3	chr7:136526372-136526572	MCF10A-Er-Src	breast:	n/a	n/a
28	TAF1	chr7:136516126-136516448	H1-hESC	embryonic stem cell:	n/a	n/a
29	TAF1	chr7:136516159-136516434	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF1	chr7:136521021-136521129	HepG2	liver:	n/a	n/a
31	USF2	chr7:136527720-136527735	HepG2	liver:	n/a	n/a
32	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: 128 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117549247	chr7:136515632-136515633	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532771922	chr7:136515643-136515644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs530245025	chr7:136515644-136515645	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79771561	chr7:136515680-136515681	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs569550016	chr7:136515681-136515682	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569411495	chr7:136515710-136515711	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs6970010	chr7:136515717-136515718	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114037490	chr7:136515721-136515722	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs187631929	chr7:136515722-136515723	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6950239	chr7:136515742-136515743	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs75373729	chr7:136515758-136515759	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs77501533	chr7:136515764-136515765	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs537252783	chr7:136515770-136515771	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs80022803	chr7:136515780-136515781	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576602051	chr7:136515812-136515813	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs58680728	chr7:136515814-136515815	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs111947914	chr7:136515815-136515816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs111433790	chr7:136515831-136515832	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572424446	chr7:136515832-136515833	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541327551	chr7:136515843-136515844	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146805697	chr7:136515847-136515848	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs62485204	chr7:136515859-136515860	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574642081	chr7:136515876-136515877	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs543609790	chr7:136515881-136515882	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs6974097	chr7:136515910-136515911	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190312091	chr7:136515911-136515912	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs182076608	chr7:136515914-136515915	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559059170	chr7:136515917-136515918	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185982226	chr7:136515934-136515935	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs386718206	chr7:136515937-136515938	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs12113709	chr7:136515938-136515939	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs556166199	chr7:136515944-136515945	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs537383426	chr7:136515945-136515946	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576310507	chr7:136515957-136515958	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs12112518	chr7:136515963-136515964	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs570686432	chr7:136515966-136515967	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538728405	chr7:136515996-136515997	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541655114	chr7:136516000-136516001	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs80250127	chr7:136516008-136516009	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs572307636	chr7:136516080-136516081	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs143243919	chr7:136516090-136516091	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554710318	chr7:136516091-136516092	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs148287512	chr7:136516092-136516093	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs543743371	chr7:136516097-136516098	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs563521884	chr7:136516103-136516104	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs13309450	chr7:136516116-136516117	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs545547239	chr7:136516117-136516118	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs559409975	chr7:136516118-136516119	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528029456	chr7:136516123-136516124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548165498	chr7:136516140-136516141	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:13 , 50 per page) page: 1

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

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