Variant report

Variant	nsv965215
Chromosome Location	chr3:138800265-138808614
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	CTCF	chr3:138803435-138803529	Kidney_OC	kidney:	n/a	n/a
2	CTCF	chr3:138807355-138807406	GM20000	blood:	n/a	n/a
3	E2F4	chr3:138808390-138808512	MCF10A-Er-Src	breast:	n/a	n/a
4	MAFF	chr3:138802728-138802995	K562	blood:	n/a	chr3:138802815-138802833
5	MAFF	chr3:138802676-138802922	HepG2	liver:	n/a	chr3:138802815-138802833
6	MAFK	chr3:138802660-138802922	HepG2	liver:	n/a	n/a
7	MAFK	chr3:138802670-138802994	HepG2	liver:	n/a	n/a
8	POLR2A	chr3:138807567-138807841	MCF-7	breast:	n/a	n/a
9	POLR2A	chr3:138807547-138807565	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:138800831-138801027	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:138807842-138808127	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:138808429-138808488	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:138807610-138807674	Gliobla	brain:	n/a	n/a
14	POLR2A	chr3:138807692-138807738	Gliobla	brain:	n/a	n/a
15	STAT3	chr3:138803329-138803474	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138808358..138809864-chr3:139107100..139108975,2	K562	blood:

Variant related genes	Relation type
RPL7L1P7	TF binding region
ENSG00000252245	chromatin interactions
ENSG00000248932	chromatin interactions
ENSG00000184432	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561823193	chr3:138802678-138802679	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542613903	chr3:138802728-138802729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs149365536	chr3:138802742-138802743	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs576586253	chr3:138802780-138802781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542396380	chr3:138802832-138802833	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs371806271	chr3:138802833-138802834	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs79177273	chr3:138802843-138802844	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs565068109	chr3:138802875-138802876	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187793071	chr3:138803372-138803373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs68129305	chr3:138803442-138803443	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556270476	chr3:138803464-138803465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs79748096	chr3:138803510-138803511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201824936	chr3:138807614-138807615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370247580	chr3:138807617-138807618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1851265	chr3:138807620-138807621	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1849107	chr3:138807648-138807649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113864993	chr3:138807677-138807678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs3072563	chr3:138807678-138807679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201225957	chr3:138807679-138807680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562102921	chr3:138807709-138807710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553704485	chr3:138807735-138807736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138490099	chr3:138807806-138807807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547662986	chr3:138807968-138807969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555117309	chr3:138808400-138808401	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs568872240	chr3:138808431-138808432	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs537799516	chr3:138808482-138808483	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs141376198	chr3:138808495-138808496	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs182574048	chr3:138808560-138808561	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
Developmental delay	21147756	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138807600-138808000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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