Variant report

Variant	esv13451
Chromosome Location	chr3:20311112-20317882
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	MAFF	chr3:20317255-20317411	HepG2	liver:	n/a	n/a
2	MAFK	chr3:20317340-20317449	HepG2	liver:	n/a	n/a
3	MAFK	chr3:20310936-20311230	IMR90	lung:	n/a	n/a
4	NFYA	chr3:20310899-20311220	K562	blood:	n/a	chr3:20311109-20311127 chr3:20311133-20311151
5	NFYA	chr3:20317202-20317414	K562	blood:	n/a	n/a
6	NFYB	chr3:20310873-20311352	K562	blood:	n/a	n/a
7	NFYB	chr3:20310982-20311327	GM12878	blood:	n/a	n/a
8	NFYB	chr3:20317210-20317506	GM12878	blood:	n/a	n/a
9	NFYB	chr3:20317143-20317567	K562	blood:	n/a	n/a
10	POLR2A	chr3:20311224-20311230	K562	blood:	n/a	n/a
11	SP1	chr3:20310987-20311237	GM12878	blood:	n/a	n/a
12	ZBTB7A	chr3:20316955-20317238	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20316601..20319465-chr3:20319672..20321888,2	K562	blood:

Variant related genes	Relation type
RNU6-822P	TF binding region

Extended variants
information (count: 147 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557107408	chr3:20311133-20311134	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs535060782	chr3:20311157-20311158	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs543467670	chr3:20311159-20311160	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558271613	chr3:20311160-20311161	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs140878073	chr3:20311187-20311188	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs372708855	chr3:20311225-20311226	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150152162	chr3:20311226-20311227	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12633424	chr3:20311232-20311233	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs559719254	chr3:20311285-20311286	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs542570599	chr3:20311286-20311287	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542060531	chr3:20311290-20311291	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs562353943	chr3:20311298-20311299	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575950997	chr3:20311327-20311328	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs533418267	chr3:20311332-20311333	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs371411749	chr3:20311344-20311345	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs9840943	chr3:20311352-20311353	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552683348	chr3:20311360-20311361	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs62243480	chr3:20311361-20311362	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528518780	chr3:20311369-20311370	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs532197788	chr3:20311370-20311371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113380817	chr3:20311378-20311379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568438459	chr3:20311423-20311424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs112240479	chr3:20311426-20311427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs143869490	chr3:20311448-20311449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535717042	chr3:20311450-20311451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112096821	chr3:20311455-20311456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs142010890	chr3:20311459-20311460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs539642144	chr3:20311482-20311483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs558659918	chr3:20311483-20311484	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576850481	chr3:20311488-20311489	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541049983	chr3:20311491-20311492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs146141218	chr3:20311492-20311493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574792700	chr3:20311520-20311521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542099312	chr3:20311525-20311526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563571186	chr3:20311528-20311529	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs550712726	chr3:20311529-20311530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs77162871	chr3:20311558-20311559	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530771186	chr3:20311576-20311577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs4858170	chr3:20311579-20311580	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs564630160	chr3:20311592-20311593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528548209	chr3:20311597-20311598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375042713	chr3:20311605-20311606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372425201	chr3:20311613-20311614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs143771935	chr3:20311616-20311617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77232656	chr3:20311617-20311618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs569441750	chr3:20311622-20311623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs78552180	chr3:20311627-20311628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76191451	chr3:20311656-20311657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188894786	chr3:20311662-20311663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146824576	chr3:20311663-20311664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20309600-20312000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:20316600-20318600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:20317600-20329000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:20317800-20318200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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