Variant report

Variant	esv33023
Chromosome Location	chr7:62830337-62835635
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	chr7:62833922-62834237	HepG2	liver:	n/a	chr7:62834069-62834080 chr7:62833977-62833988 chr7:62834068-62834081 chr7:62834070-62834079 chr7:62834068-62834079
2	GATA3	chr7:62835566-62835772	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr7:62833837-62834152	SH-SY5Y	brain:	n/a	n/a
4	KAT2A	chr7:62833540-62833873	GM12878	blood:	n/a	n/a
5	MAFK	chr7:62833915-62833917	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr7:62833478-62833715	HepG2	liver:	n/a	n/a
7	MAFK	chr7:62833434-62833665	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:62830539-62830616	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr7:62831843-62832043	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
VN1R32P	TF binding region
VN1R31P	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55703874	chr7:62830339-62830340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs185455284	chr7:62830373-62830374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs116383317	chr7:62830392-62830393	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs571914987	chr7:62830558-62830559	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs540825340	chr7:62830587-62830588	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150640385	chr7:62830596-62830597	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533120925	chr7:62830609-62830610	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs543677633	chr7:62830663-62830664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563706804	chr7:62830690-62830691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs529268883	chr7:62830706-62830707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs140099380	chr7:62830745-62830746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs142519977	chr7:62830783-62830784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528576898	chr7:62830964-62830965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551736112	chr7:62830972-62830973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs76417169	chr7:62830977-62830978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs537380225	chr7:62830990-62830991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs34805087	chr7:62831042-62831043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114164070	chr7:62831077-62831078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs117607743	chr7:62831092-62831093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535040449	chr7:62831110-62831111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527778078	chr7:62831113-62831114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs373146849	chr7:62831121-62831122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs371684874	chr7:62831126-62831127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs571846766	chr7:62831127-62831128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs541115247	chr7:62831185-62831186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs191021831	chr7:62831848-62831849	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs554612347	chr7:62831879-62831880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs534452694	chr7:62831987-62831988	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145664066	chr7:62832000-62832001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs148401200	chr7:62832017-62832018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112870122	chr7:62833441-62833442	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs552999158	chr7:62833462-62833463	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs566796068	chr7:62833484-62833485	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs538550590	chr7:62833490-62833491	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs558941383	chr7:62833575-62833576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs575220916	chr7:62833579-62833580	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs76261301	chr7:62833605-62833606	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs367832869	chr7:62833639-62833640	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs567581984	chr7:62833655-62833656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372936405	chr7:62833669-62833670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs28672206	chr7:62833757-62833758	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs377064529	chr7:62833775-62833776	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs540388468	chr7:62833805-62833806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs560510991	chr7:62833931-62833932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532886757	chr7:62833939-62833940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs546164696	chr7:62833948-62833949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140568793	chr7:62833959-62833960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs150477056	chr7:62834053-62834054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs530488210	chr7:62834058-62834059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs371468068	chr7:62834098-62834099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
Schizophrenia	20967226	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62829000-62831200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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