Variant report

Variant	nsv877603
Chromosome Location	chr3:145098107-145260381
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	ARID3A	chr3:145129420-145129727	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:145166336-145166534	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:145236420-145236719	HepG2	liver:	n/a	n/a
4	CBX3	chr3:145166208-145166656	HCT-116	colon:	n/a	n/a
5	CBX3	chr3:145107215-145107528	HCT-116	colon:	n/a	n/a
6	CEBPB	chr3:145240424-145240661	HepG2	liver:	n/a	chr3:145240578-145240589
7	CEBPB	chr3:145219070-145219247	A549	lung:	n/a	n/a
8	CEBPB	chr3:145237587-145237775	H1-hESC	embryonic stem cell:	n/a	chr3:145237666-145237677
9	CEBPB	chr3:145236506-145236645	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:145140324-145140658	HepG2	liver:	n/a	chr3:145140452-145140463 chr3:145140454-145140465
11	CEBPB	chr3:145236438-145236739	HepG2	liver:	n/a	n/a
12	CEBPB	chr3:145237238-145237758	HepG2	liver:	n/a	chr3:145237493-145237504 chr3:145237666-145237677
13	CEBPB	chr3:145130418-145130558	A549	lung:	n/a	n/a
14	CEBPB	chr3:145140340-145140542	A549	lung:	n/a	chr3:145140452-145140463 chr3:145140454-145140465
15	CTCF	chr3:145253080-145253230	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr3:145123500-145123650	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr3:145123457-145123603	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:145133472-145133522	ProgFib	skin:	n/a	n/a
19	CTCF	chr3:145145940-145146090	GM12869	blood:	n/a	n/a
20	CTCF	chr3:145211542-145211605	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:145137523-145137565	LNCaP	prostate:	n/a	n/a
22	CTCF	chr3:145158420-145158570	WI-38	lung:	n/a	n/a
23	CTCF	chr3:145128567-145128605	Kidney_OC	kidney:	n/a	n/a
24	E2F4	chr3:145216337-145216891	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr3:145122013-145122193	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr3:145248621-145248900	MCF10A-Er-Src	breast:	n/a	n/a
27	E2F4	chr3:145249268-145249468	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F4	chr3:145221801-145221903	MCF10A-Er-Src	breast:	n/a	n/a
29	E2F4	chr3:145253129-145253270	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr3:145221171-145221280	GM12878	blood:	n/a	chr3:145221228-145221239
31	ELF1	chr3:145236461-145236796	HepG2	liver:	n/a	n/a
32	ELF1	chr3:145236494-145236755	HepG2	liver:	n/a	n/a
33	EP300	chr3:145236433-145236796	HepG2	liver:	n/a	n/a
34	EP300	chr3:145236518-145236661	HepG2	liver:	n/a	n/a
35	EP300	chr3:145236443-145236791	HepG2	liver:	n/a	n/a
36	EP300	chr3:145228255-145228361	K562	blood:	n/a	n/a
37	EP300	chr3:145186499-145186545	K562	blood:	n/a	n/a
38	FAM48A	chr3:145210806-145210932	GM12878	blood:	n/a	n/a
39	FOS	chr3:145167827-145168511	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
40	FOS	chr3:145256786-145257144	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr3:145166353-145166491	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr3:145246251-145246333	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr3:145166346-145166577	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr3:145167824-145168473	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
45	FOS	chr3:145166317-145166518	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr3:145167830-145168442	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
47	FOS	chr3:145256788-145257346	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr3:145256786-145257107	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr3:145167812-145168483	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
50	FOS	chr3:145166317-145166599	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
2	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:
3	chr3:144983651..144984522-chr3:145123095..145123660,2	MCF-7	breast:
4	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:
5	chr3:145113957..145115664-chr3:145117395..145120125,2	MCF-7	breast:
6	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:
7	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:
8	chr3:145089993..145092059-chr3:145098025..145100330,2	MCF-7	breast:
9	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC107021.1-9	chr3:145093215-145098582	NONHSAT092537
2	lnc-AC107021.1-8	chr3:145241325-145242202	NONHSAT092538

Variant related genes	Relation type
ENSG00000244024	TF binding region

Extended variants
information (count: 2507 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2507 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1383609	chr3:145098107-145098108	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548404619	chr3:145098109-145098110	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560248956	chr3:145098164-145098165	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs563912455	chr3:145098216-145098217	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs527516565	chr3:145098245-145098246	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs552465817	chr3:145098284-145098285	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs144766733	chr3:145098290-145098291	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs1383610	chr3:145098300-145098301	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs183913512	chr3:145098301-145098302	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs567971902	chr3:145098303-145098304	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs535484757	chr3:145098317-145098318	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs567932484	chr3:145098330-145098331	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs553606428	chr3:145098340-145098341	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs573348813	chr3:145098345-145098346	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs370539075	chr3:145098386-145098387	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs545580969	chr3:145098395-145098396	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs186840059	chr3:145098403-145098404	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs193039941	chr3:145098467-145098468	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs345050	chr3:145098473-145098474	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558800786	chr3:145098480-145098481	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs577167427	chr3:145098500-145098501	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs544193020	chr3:145098554-145098555	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs562862773	chr3:145098557-145098558	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574746452	chr3:145098572-145098573	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs185733981	chr3:145098601-145098602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560399215	chr3:145098676-145098677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148590894	chr3:145098678-145098679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552447050	chr3:145098695-145098696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564362330	chr3:145098735-145098736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531595168	chr3:145098740-145098741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376440871	chr3:145098863-145098864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs345051	chr3:145098900-145098901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374322274	chr3:145098908-145098909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568018055	chr3:145098975-145098976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535117825	chr3:145099015-145099016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547450659	chr3:145099084-145099085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs345052	chr3:145099127-145099128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534125488	chr3:145099166-145099167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116635002	chr3:145099173-145099174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577035740	chr3:145099197-145099198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538105209	chr3:145099198-145099199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142952205	chr3:145099204-145099205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574743005	chr3:145099241-145099242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541893390	chr3:145099242-145099243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80023432	chr3:145099265-145099266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576198491	chr3:145099297-145099298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572613139	chr3:145099349-145099350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546329264	chr3:145099378-145099379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564225410	chr3:145099455-145099456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531558275	chr3:145099472-145099473	Weak transcription	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
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145093000-145106200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:145101200-145101800	Active TSS	Stomach Smooth Muscle	stomach
3	chr3:145101800-145102000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr3:145102200-145102600	Enhancers	Fetal Stomach	stomach
5	chr3:145102400-145102600	Enhancers	Colon Smooth Muscle	Colon
6	chr3:145102600-145103400	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:145103400-145103600	Enhancers	Colon Smooth Muscle	Colon
8	chr3:145103600-145105000	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:145105200-145105400	Enhancers	Colon Smooth Muscle	Colon
10	chr3:145113200-145113600	Active TSS	Spleen	Spleen
11	chr3:145139800-145140800	Enhancers	Fetal Lung	lung
12	chr3:145152200-145153600	Enhancers	Fetal Lung	lung
13	chr3:145166400-145166800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:145166400-145167400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:145171200-145171400	Enhancers	Fetal Heart	heart
16	chr3:145171400-145175800	Weak transcription	Fetal Heart	heart
17	chr3:145171600-145172400	Enhancers	Brain Hippocampus Middle	brain
18	chr3:145175800-145176400	Enhancers	Fetal Heart	heart
19	chr3:145196800-145197400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:145201200-145202600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:145208000-145208200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr3:145208000-145208600	Enhancers	Right Ventricle	heart
23	chr3:145208200-145208400	Active TSS	Left Ventricle	heart
24	chr3:145208400-145208600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:145208400-145208600	Flanking Active TSS	Left Ventricle	heart
26	chr3:145208400-145208800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:145208400-145208800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:145208400-145210000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:145208600-145208800	Enhancers	Left Ventricle	heart
30	chr3:145208600-145210000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:145208800-145220200	Weak transcription	Left Ventricle	heart
32	chr3:145210000-145210200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:145210000-145210400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr3:145210000-145211000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr3:145210000-145211000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:145210000-145211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:145210200-145210800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:145210200-145210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr3:145210200-145211000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:145210200-145211200	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr3:145210800-145211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:145210800-145211000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr3:145211000-145214400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:145211000-145215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:145211200-145215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:145214400-145215600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr3:145215000-145215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr3:145215000-145215600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:145215200-145215600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:145220400-145221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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