Variant report

Variant	esv3413970
Chromosome Location	chr3:144756303-144788871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 148 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556532758	chr3:144779051-144779052	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181600007	chr3:144779065-144779066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185925045	chr3:144779068-144779069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191170031	chr3:144779074-144779075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs540771739	chr3:144779095-144779096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs565331193	chr3:144779107-144779108	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs146115827	chr3:144779113-144779114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138901117	chr3:144779134-144779135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs138302037	chr3:144779164-144779165	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs182014064	chr3:144779208-144779209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs369338907	chr3:144779228-144779229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs371222834	chr3:144779236-144779237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112746215	chr3:144779269-144779270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77410916	chr3:144779274-144779275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs148125994	chr3:144779302-144779303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs6802700	chr3:144779311-144779312	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs570540344	chr3:144779339-144779340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs7646575	chr3:144779347-144779348	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs556467232	chr3:144779364-144779365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs74586765	chr3:144779397-144779398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs541803125	chr3:144779417-144779418	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs547350962	chr3:144779422-144779423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs565688034	chr3:144779423-144779424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs539140194	chr3:144779454-144779455	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs553488276	chr3:144779469-144779470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs572054077	chr3:144779493-144779494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs187263879	chr3:144779507-144779508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545569858	chr3:144779546-144779547	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs74328278	chr3:144779566-144779567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138942614	chr3:144779571-144779572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs532545143	chr3:144779576-144779577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544419281	chr3:144779596-144779597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs142112024	chr3:144779607-144779608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs7648837	chr3:144779627-144779628	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190956481	chr3:144779641-144779642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs566746746	chr3:144779651-144779652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs9864416	chr3:144779652-144779653	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs375450334	chr3:144779656-144779657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs182741701	chr3:144779685-144779686	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs570948340	chr3:144779713-144779714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs139738498	chr3:144779715-144779716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556399886	chr3:144779723-144779724	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs568312494	chr3:144779732-144779733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149667898	chr3:144779745-144779746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs536823865	chr3:144779747-144779748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571930141	chr3:144779771-144779772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs373907307	chr3:144779790-144779791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs557535667	chr3:144779819-144779820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs575743084	chr3:144779846-144779847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144441973	chr3:144779851-144779852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144779000-144781600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:144779800-144780600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:144779800-144780600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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