Variant report

Variant	esv19457
Chromosome Location	chr3:146071361-146085768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 612 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189739593	chr3:146071385-146071386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs76545621	chr3:146071425-146071426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115999183	chr3:146071476-146071477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182240666	chr3:146071484-146071485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs187297904	chr3:146071529-146071530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556025564	chr3:146071586-146071587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373246021	chr3:146071588-146071589	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs368135578	chr3:146071594-146071595	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528741453	chr3:146071600-146071601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547266376	chr3:146071635-146071636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs571532721	chr3:146071652-146071653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532549393	chr3:146071653-146071654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs147178587	chr3:146071667-146071668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs191741756	chr3:146071680-146071681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs113141456	chr3:146071702-146071703	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs371593877	chr3:146071731-146071732	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs140286137	chr3:146071747-146071748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183573473	chr3:146071805-146071806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs187122921	chr3:146071826-146071827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs149674769	chr3:146071854-146071855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs190430732	chr3:146071856-146071857	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577143325	chr3:146071865-146071866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145605290	chr3:146071890-146071891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532406728	chr3:146071934-146071935	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs376663651	chr3:146071939-146071940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs570413815	chr3:146071945-146071946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs369842627	chr3:146071951-146071952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs374549748	chr3:146071957-146071958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs574540415	chr3:146072008-146072009	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148486957	chr3:146072025-146072026	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545833003	chr3:146072037-146072038	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111964802	chr3:146072044-146072045	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564033880	chr3:146072086-146072087	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146489258	chr3:146072087-146072088	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540602396	chr3:146072088-146072089	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369608033	chr3:146072104-146072105	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112798111	chr3:146072124-146072125	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550714507	chr3:146072143-146072144	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs78292104	chr3:146072152-146072153	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs182689923	chr3:146072157-146072158	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543096622	chr3:146072193-146072194	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548659437	chr3:146072213-146072214	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566782154	chr3:146072258-146072259	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186635763	chr3:146072283-146072284	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145054480	chr3:146072307-146072308	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146830129	chr3:146072311-146072312	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140437964	chr3:146072317-146072318	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150410327	chr3:146072326-146072327	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561940542	chr3:146072331-146072332	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115036861	chr3:146072332-146072333	ZNF genes & repeats Enhancers	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146071200-146071600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:146071200-146072600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr3:146072000-146072600	Enhancers	HSMM	muscle
4	chr3:146072800-146075400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:146072800-146077200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:146074000-146074400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:146077200-146079200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr3:146077200-146079400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:146077200-146081200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:146077400-146079000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr3:146078800-146079200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:146079400-146080800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:146080400-146080800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:146081000-146081200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:146084800-146085200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:146085400-146086800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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