Variant report

Variant	esv2759575
Chromosome Location	chr7:152844064-152850124
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	chr7:152850019-152850414	HepG2	liver:	n/a	chr7:152850048-152850059
2	CEBPB	chr7:152850025-152850417	Hela-S3	cervix:	n/a	chr7:152850048-152850059
3	CTCF	chr7:152846639-152846668	GM10266	blood:	n/a	n/a
4	FOSL1	chr7:152848929-152849242	HCT-116	colon:	n/a	n/a
5	JUND	chr7:152848918-152849198	HCT-116	colon:	n/a	n/a
6	MAX	chr7:152844997-152845021	NB4	blood:	n/a	n/a
7	POLR2A	chr7:152849827-152850254	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr7:152849819-152850207	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr7:152845484-152845654	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:152846094-152846103	MCF10A-Er-Src	breast:	n/a	n/a
11	REST	chr7:152843826-152844080	H1-hESC	embryonic stem cell:	n/a	chr7:152844037-152844045
12	STAT3	chr7:152848392-152848592	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000224104	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4726258	chr7:152844064-152844065	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539360979	chr7:152845018-152845019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs369115525	chr7:152845528-152845529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566363006	chr7:152845532-152845533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs74894808	chr7:152845564-152845565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs148002556	chr7:152845628-152845629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs548948793	chr7:152845639-152845640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs575863478	chr7:152845650-152845651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs140308343	chr7:152846094-152846095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs371480069	chr7:152846096-152846097	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs62496014	chr7:152846097-152846098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs532804597	chr7:152846099-152846100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184600369	chr7:152849010-152849011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs12333400	chr7:152849038-152849039	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12333398	chr7:152849047-152849048	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200012718	chr7:152849083-152849084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201255798	chr7:152849095-152849096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113763754	chr7:152849114-152849115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116543863	chr7:152849131-152849132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562509881	chr7:152849132-152849133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs180748257	chr7:152849172-152849173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs533272613	chr7:152849173-152849174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs186391697	chr7:152849194-152849195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147170364	chr7:152849230-152849231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190059123	chr7:152849243-152849244	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs549461276	chr7:152849267-152849268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs181755955	chr7:152849277-152849278	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186061254	chr7:152849290-152849291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs557016065	chr7:152849313-152849314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575262233	chr7:152849314-152849315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs534195798	chr7:152849327-152849328	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs372925661	chr7:152849335-152849336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs374249209	chr7:152849336-152849337	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368353282	chr7:152849337-152849338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs530264185	chr7:152849339-152849340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369523985	chr7:152849357-152849358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs56776502	chr7:152849360-152849361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs78351897	chr7:152849361-152849362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4726261	chr7:152849372-152849373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs149247818	chr7:152849400-152849401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191176111	chr7:152849409-152849410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs573000139	chr7:152849410-152849411	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555792456	chr7:152849438-152849439	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs540399382	chr7:152849442-152849443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555407117	chr7:152849447-152849448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112378652	chr7:152849473-152849474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs183463752	chr7:152849494-152849495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs10245112	chr7:152849574-152849575	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562546731	chr7:152849590-152849591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs533119423	chr7:152849594-152849595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:152849000-152849800	ZNF genes & repeats	Placenta	Placenta
2	chr7:152849800-152852000	Weak transcription	Placenta	Placenta

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