Variant report

Variant	esv17242
Chromosome Location	chr3:99207484-99216623
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	CTCF	chr3:99213943-99213978	Lung_OC	lung:	n/a	n/a
2	MAZ	chr3:99209513-99209519	HepG2	liver:	n/a	n/a
3	MEF2A	chr3:99215254-99215647	GM12878	blood:	n/a	n/a
4	MEF2A	chr3:99215340-99215698	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:99207690-99207705	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr3:99214730-99214757	MCF10A-Er-Src	breast:	n/a	n/a
7	RUNX3	chr3:99215365-99215702	GM12878	blood:	n/a	n/a
8	SETDB1	chr3:99214885-99215366	U2OS	brain:	n/a	n/a
9	STAT3	chr3:99216385-99216550	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr3:99210146-99210147	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99215007..99217420-chr3:99218950..99221198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243296	TF binding region
ENSG00000243296	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533758841	chr3:99207601-99207602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs1849494	chr3:99207634-99207635	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77293013	chr3:99207788-99207789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190655775	chr3:99207806-99207807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs182338438	chr3:99207809-99207810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs9811556	chr3:99207866-99207867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs562528054	chr3:99207886-99207887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs577628638	chr3:99207894-99207895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs545453322	chr3:99207922-99207923	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560384841	chr3:99207932-99207933	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs527844111	chr3:99207939-99207940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549310501	chr3:99207954-99207955	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs113477092	chr3:99207956-99207957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561496154	chr3:99207999-99208000	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376425591	chr3:99208016-99208017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs187707290	chr3:99208031-99208032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs4928135	chr3:99208044-99208045	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs560240090	chr3:99208046-99208047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs568843437	chr3:99208059-99208060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539065829	chr3:99208068-99208069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs551417303	chr3:99208098-99208099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527933699	chr3:99208099-99208100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35217023	chr3:99208129-99208130	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547712108	chr3:99208138-99208139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs369498119	chr3:99208145-99208146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs567995980	chr3:99208151-99208152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs191032655	chr3:99208186-99208187	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs149071291	chr3:99208187-99208188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs183543435	chr3:99208208-99208209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34050211	chr3:99208233-99208234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559767399	chr3:99208234-99208235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs188319894	chr3:99208263-99208264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs145898555	chr3:99208319-99208320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs556058348	chr3:99208335-99208336	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372522103	chr3:99208379-99208380	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533745600	chr3:99214740-99214741	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs146020588	chr3:99214906-99214907	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544029619	chr3:99214973-99214974	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs545143382	chr3:99215067-99215068	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs554317912	chr3:99215068-99215069	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572613274	chr3:99215076-99215077	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543241189	chr3:99215078-99215079	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs71313550	chr3:99215090-99215091	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576652041	chr3:99215101-99215102	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77504758	chr3:99215140-99215141	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs562320580	chr3:99215143-99215144	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs182444120	chr3:99215150-99215151	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551147044	chr3:99215156-99215157	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs2342465	chr3:99215166-99215167	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527429704	chr3:99215171-99215172	Inactive region	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99207200-99208400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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