Variant report

Variant	esv3360121
Chromosome Location	chr3:145205929-145225718
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:

Extended variants
information (count: 685 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:685 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13076779	chr3:145208031-145208032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112539301	chr3:145208045-145208046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558523247	chr3:145208084-145208085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568241674	chr3:145208085-145208086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112134123	chr3:145208095-145208096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200312580	chr3:145208104-145208105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556353609	chr3:145208105-145208106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574520807	chr3:145208116-145208117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560475946	chr3:145208117-145208118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542162543	chr3:145208130-145208131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554149853	chr3:145208134-145208135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560449728	chr3:145208160-145208161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555048866	chr3:145208200-145208201	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs4574236	chr3:145208230-145208231	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145440156	chr3:145208238-145208239	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78570162	chr3:145208243-145208244	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563909550	chr3:145208250-145208251	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531463439	chr3:145208256-145208257	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371787436	chr3:145208264-145208265	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111883932	chr3:145208276-145208277	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113332429	chr3:145208302-145208303	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530189202	chr3:145208324-145208325	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548474185	chr3:145208342-145208343	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373622334	chr3:145208366-145208367	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566868422	chr3:145208383-145208384	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576700562	chr3:145208431-145208432	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs544062740	chr3:145208469-145208470	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs118098645	chr3:145208491-145208492	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs185923016	chr3:145208543-145208544	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs552190223	chr3:145208663-145208664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75627107	chr3:145208712-145208713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538360468	chr3:145208732-145208733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111231691	chr3:145208769-145208770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191219186	chr3:145208779-145208780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183792136	chr3:145208780-145208781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377605020	chr3:145208903-145208904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554007604	chr3:145208980-145208981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189201023	chr3:145209034-145209035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77279516	chr3:145209063-145209064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73009243	chr3:145209082-145209083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs575913057	chr3:145209101-145209102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543512080	chr3:145209104-145209105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140577715	chr3:145209131-145209132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528950234	chr3:145209138-145209139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143174038	chr3:145209158-145209159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12152309	chr3:145209160-145209161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528009968	chr3:145209174-145209175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552568376	chr3:145209184-145209185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544544870	chr3:145209254-145209255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531567308	chr3:145209258-145209259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145208000-145208200	Enhancers	H9 Cell Line	embryonic stem cell
2	chr3:145208000-145208600	Enhancers	Right Ventricle	heart
3	chr3:145208200-145208400	Active TSS	Left Ventricle	heart
4	chr3:145208400-145208600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr3:145208400-145208600	Flanking Active TSS	Left Ventricle	heart
6	chr3:145208400-145208800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:145208400-145208800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:145208400-145210000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:145208600-145208800	Enhancers	Left Ventricle	heart
10	chr3:145208600-145210000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:145208800-145220200	Weak transcription	Left Ventricle	heart
12	chr3:145210000-145210200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:145210000-145210400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:145210000-145211000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr3:145210000-145211000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:145210000-145211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:145210200-145210800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:145210200-145210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:145210200-145211000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:145210200-145211200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:145210800-145211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr3:145210800-145211000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:145211000-145214400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:145211000-145215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:145211200-145215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr3:145214400-145215600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr3:145215000-145215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr3:145215000-145215600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:145215200-145215600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:145220400-145221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr3:145221000-145221400	Enhancers	Adipose Nuclei	Adipose
32	chr3:145221200-145221400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:145224200-145224600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:145224400-145224800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:145224600-145225400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:145224600-145237400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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