Variant report

Variant	esv3428127
Chromosome Location	chr3:146073560-146082194
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 455 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367936165	chr3:146073562-146073563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11916414	chr3:146073597-146073598	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs141724649	chr3:146073598-146073599	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532981797	chr3:146073603-146073604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11916417	chr3:146073617-146073618	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs367740146	chr3:146073648-146073649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149273413	chr3:146073670-146073671	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530562046	chr3:146073675-146073676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548804013	chr3:146073680-146073681	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559726232	chr3:146073684-146073685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144418843	chr3:146073687-146073688	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78595872	chr3:146073705-146073706	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566327785	chr3:146073726-146073727	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533151675	chr3:146073759-146073760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117750513	chr3:146073770-146073771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142398010	chr3:146073777-146073778	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576706740	chr3:146073831-146073832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537579398	chr3:146073852-146073853	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189337589	chr3:146073859-146073860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11928697	chr3:146073860-146073861	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549085301	chr3:146073902-146073903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111959819	chr3:146073933-146073934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139986848	chr3:146073946-146073947	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528473987	chr3:146073970-146073971	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541039976	chr3:146073980-146073981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180976367	chr3:146074025-146074026	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577476029	chr3:146074026-146074027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544894167	chr3:146074033-146074034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563192786	chr3:146074043-146074044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187296871	chr3:146074068-146074069	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377404381	chr3:146074157-146074158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546878130	chr3:146074169-146074170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530599183	chr3:146074178-146074179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370193992	chr3:146074189-146074190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190546227	chr3:146074199-146074200	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371950975	chr3:146074227-146074228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571893257	chr3:146074235-146074236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146247874	chr3:146074238-146074239	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528090301	chr3:146074242-146074243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115767593	chr3:146074263-146074264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571251815	chr3:146074273-146074274	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557304747	chr3:146074274-146074275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552080544	chr3:146074277-146074278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570473558	chr3:146074298-146074299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181589523	chr3:146074307-146074308	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537213233	chr3:146074313-146074314	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150008475	chr3:146074327-146074328	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185908685	chr3:146074345-146074346	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535028626	chr3:146074376-146074377	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552990550	chr3:146074377-146074378	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146072800-146075400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:146072800-146077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:146074000-146074400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:146077200-146079200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr3:146077200-146079400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:146077200-146081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr3:146077400-146079000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr3:146078800-146079200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:146079400-146080800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:146080400-146080800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr3:146081000-146081200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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