Variant report

Variant	nsv877605
Chromosome Location	chr3:145134631-145250034
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	chr3:145166336-145166534	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:145236420-145236719	HepG2	liver:	n/a	n/a
3	CBX3	chr3:145166208-145166656	HCT-116	colon:	n/a	n/a
4	CEBPB	chr3:145237238-145237758	HepG2	liver:	n/a	chr3:145237493-145237504 chr3:145237666-145237677
5	CEBPB	chr3:145219070-145219247	A549	lung:	n/a	n/a
6	CEBPB	chr3:145237587-145237775	H1-hESC	embryonic stem cell:	n/a	chr3:145237666-145237677
7	CEBPB	chr3:145240424-145240661	HepG2	liver:	n/a	chr3:145240578-145240589
8	CEBPB	chr3:145140340-145140542	A549	lung:	n/a	chr3:145140452-145140463 chr3:145140454-145140465
9	CEBPB	chr3:145236506-145236645	HepG2	liver:	n/a	n/a
10	CEBPB	chr3:145236438-145236739	HepG2	liver:	n/a	n/a
11	CEBPB	chr3:145140324-145140658	HepG2	liver:	n/a	chr3:145140452-145140463 chr3:145140454-145140465
12	CTCF	chr3:145137523-145137565	LNCaP	prostate:	n/a	n/a
13	CTCF	chr3:145211542-145211605	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr3:145158420-145158570	WI-38	lung:	n/a	n/a
15	CTCF	chr3:145145940-145146090	GM12869	blood:	n/a	n/a
16	E2F4	chr3:145221801-145221903	MCF10A-Er-Src	breast:	n/a	n/a
17	E2F4	chr3:145249268-145249468	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr3:145216337-145216891	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr3:145248621-145248900	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr3:145221171-145221280	GM12878	blood:	n/a	chr3:145221228-145221239
21	ELF1	chr3:145236494-145236755	HepG2	liver:	n/a	n/a
22	ELF1	chr3:145236461-145236796	HepG2	liver:	n/a	n/a
23	EP300	chr3:145236518-145236661	HepG2	liver:	n/a	n/a
24	EP300	chr3:145236433-145236796	HepG2	liver:	n/a	n/a
25	EP300	chr3:145236443-145236791	HepG2	liver:	n/a	n/a
26	EP300	chr3:145186499-145186545	K562	blood:	n/a	n/a
27	EP300	chr3:145228255-145228361	K562	blood:	n/a	n/a
28	FAM48A	chr3:145210806-145210932	GM12878	blood:	n/a	n/a
29	FOS	chr3:145167830-145168442	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
30	FOS	chr3:145166317-145166599	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr3:145166346-145166577	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr3:145167827-145168511	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
33	FOS	chr3:145166353-145166491	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr3:145246251-145246333	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr3:145166317-145166518	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr3:145167812-145168483	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
37	FOS	chr3:145167824-145168473	MCF10A-Er-Src	breast:	n/a	chr3:145167965-145167977
38	FOSL1	chr3:145166218-145166661	HCT-116	colon:	n/a	n/a
39	FOXA1	chr3:145236282-145236822	HepG2	liver:	n/a	n/a
40	FOXA1	chr3:145235252-145235576	HepG2	liver:	n/a	n/a
41	FOXA1	chr3:145236391-145236793	HepG2	liver:	n/a	n/a
42	FOXA1	chr3:145236422-145236773	HepG2	liver:	n/a	n/a
43	FOXA1	chr3:145235231-145235605	HepG2	liver:	n/a	n/a
44	FOXA1	chr3:145235252-145235635	HepG2	liver:	n/a	n/a
45	FOXA1	chr3:145236346-145236824	HepG2	liver:	n/a	n/a
46	FOXA1	chr3:145235138-145235628	HepG2	liver:	n/a	n/a
47	FOXA2	chr3:145236463-145236750	HepG2	liver:	n/a	n/a
48	FOXA2	chr3:145235219-145235545	HepG2	liver:	n/a	n/a
49	FOXA2	chr3:145236172-145237160	HepG2	liver:	n/a	chr3:145237067-145237079
50	FOXP2	chr3:145237283-145237849	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:
2	chr3:145151670..145153633-chr3:145165383..145167143,2	K562	blood:
3	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:
4	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:
5	chr3:145182997..145184814-chr3:145187596..145189465,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC107021.1-8	chr3:145241325-145242202	NONHSAT092538

Variant related genes	Relation type
ENSG00000244024	TF binding region

Extended variants
information (count: 1995 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:1995 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3845963	chr3:145139824-145139825	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538537032	chr3:145139825-145139826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367680593	chr3:145139849-145139850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16856817	chr3:145139883-145139884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs530079041	chr3:145139902-145139903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3845964	chr3:145139946-145139947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374651649	chr3:145139974-145139975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561233365	chr3:145140089-145140090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369788478	chr3:145140090-145140091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560412888	chr3:145140141-145140142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546310293	chr3:145140148-145140149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367975614	chr3:145140184-145140185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs344990	chr3:145140297-145140298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186632537	chr3:145140315-145140316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191575777	chr3:145140344-145140345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143470587	chr3:145140352-145140353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185532697	chr3:145140356-145140357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141480700	chr3:145140357-145140358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547057549	chr3:145140358-145140359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147009053	chr3:145140374-145140375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539150934	chr3:145140395-145140396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74700882	chr3:145140419-145140420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569657128	chr3:145140484-145140485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549877221	chr3:145140511-145140512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138165663	chr3:145140516-145140517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568048517	chr3:145140550-145140551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs344991	chr3:145140607-145140608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568411746	chr3:145140624-145140625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570497270	chr3:145140687-145140688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189159205	chr3:145140741-145140742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116740631	chr3:145152204-145152205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558189085	chr3:145152220-145152221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181307066	chr3:145152221-145152222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538818249	chr3:145152231-145152232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557558012	chr3:145152232-145152233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138339742	chr3:145152257-145152258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370092344	chr3:145152290-145152291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560853559	chr3:145152310-145152311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142818797	chr3:145152330-145152331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573230342	chr3:145152339-145152340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372709173	chr3:145152340-145152341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375932839	chr3:145152341-145152342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73157233	chr3:145152357-145152358	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78582449	chr3:145152389-145152390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373000276	chr3:145152393-145152394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376562918	chr3:145152471-145152472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1516545	chr3:145152484-145152485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs373143694	chr3:145152577-145152578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566661854	chr3:145152593-145152594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371890918	chr3:145152656-145152657	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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	22037309	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145139800-145140800	Enhancers	Fetal Lung	lung
2	chr3:145152200-145153600	Enhancers	Fetal Lung	lung
3	chr3:145166400-145166800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:145166400-145167400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:145171200-145171400	Enhancers	Fetal Heart	heart
6	chr3:145171400-145175800	Weak transcription	Fetal Heart	heart
7	chr3:145171600-145172400	Enhancers	Brain Hippocampus Middle	brain
8	chr3:145175800-145176400	Enhancers	Fetal Heart	heart
9	chr3:145196800-145197400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:145201200-145202600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:145208000-145208200	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:145208000-145208600	Enhancers	Right Ventricle	heart
13	chr3:145208200-145208400	Active TSS	Left Ventricle	heart
14	chr3:145208400-145208600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:145208400-145208600	Flanking Active TSS	Left Ventricle	heart
16	chr3:145208400-145208800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:145208400-145208800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:145208400-145210000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr3:145208600-145208800	Enhancers	Left Ventricle	heart
20	chr3:145208600-145210000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:145208800-145220200	Weak transcription	Left Ventricle	heart
22	chr3:145210000-145210200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr3:145210000-145210400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:145210000-145211000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr3:145210000-145211000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr3:145210000-145211000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:145210200-145210800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:145210200-145210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:145210200-145211000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:145210200-145211200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:145210800-145211000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:145210800-145211000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:145211000-145214400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:145211000-145215200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr3:145211200-145215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:145214400-145215600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr3:145215000-145215400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr3:145215000-145215600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:145215200-145215600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr3:145220400-145221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr3:145221000-145221400	Enhancers	Adipose Nuclei	Adipose
42	chr3:145221200-145221400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr3:145224200-145224600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr3:145224400-145224800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:145224600-145225400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:145224600-145237400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr3:145231600-145231800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:145231600-145232400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:145231800-145232400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:145232400-145232600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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