Variant report

Variant	esv3362771
Chromosome Location	chr1:73771980-73805147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:73797614-73797628	K562	blood:	n/a	n/a
2	CTCF	chr1:73792560-73792710	GM12872	blood:	n/a	n/a
3	CTCF	chr1:73779486-73779511	Fibrobl	skin:	n/a	n/a
4	CTCF	chr1:73792282-73792386	GM12878	blood:	n/a	n/a
5	EBF1	chr1:73792872-73793113	GM12878	blood:	n/a	chr1:73792984-73792995
6	FOS	chr1:73783241-73783494	MCF10A-Er-Src	breast:	n/a	chr1:73783314-73783321 chr1:73783313-73783321
7	FOS	chr1:73785228-73785446	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:73785335-73785476	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:73785228-73785468	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr1:73783252-73783455	MCF10A-Er-Src	breast:	n/a	chr1:73783314-73783321 chr1:73783313-73783321
11	GATA3	chr1:73789586-73789786	SH-SY5Y	brain:	n/a	n/a
12	KAP1	chr1:73797435-73798053	K562	blood:	n/a	n/a
13	MAFK	chr1:73801755-73801913	HepG2	liver:	n/a	n/a
14	MAFK	chr1:73801638-73801816	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr1:73781189-73781191	K562	blood:	n/a	n/a
16	POLR2A	chr1:73786535-73786600	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr1:73789725-73789790	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:73788494-73788586	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:73785320-73785350	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr1:73801923-73802123	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr1:73785653-73785781	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr1:73793114-73793216	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr1:73804592-73804611	MCF10A-Er-Src	breast:	n/a	n/a
24	RAD21	chr1:73792274-73792459	H1-hESC	embryonic stem cell:	n/a	n/a
25	RFX5	chr1:73788991-73789159	K562	blood:	n/a	n/a
26	RFX5	chr1:73781527-73781619	K562	blood:	n/a	n/a
27	RFX5	chr1:73803259-73803333	K562	blood:	n/a	n/a
28	STAT3	chr1:73790585-73790785	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr1:73791224-73791616	MCF10A-Er-Src	breast:	n/a	n/a
30	STAT3	chr1:73779145-73779290	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr1:73793549-73793749	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr1:73798383-73798597	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73798827..73801805-chr6:86383227..86385872,2	K562	blood:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-3	chr1:73785151-73785344	XLOC_000256
2	lnc-FPGT-3	chr1:73772850-73773255	NONHSAT003934
3	lnc-FPGT-3	chr1:73771821-73771980	XLOC_000256
4	lnc-FPGT-3	chr1:73801129-73804560	ENSG00000233973
5	lnc-FPGT-3	chr1:73785151-73785323	XLOC_000256
6	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
7	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
8	lnc-FPGT-3	chr1:73801129-73804559	XLOC_000256
9	lnc-FPGT-3	chr1:73772899-73773046	XLOC_000256
10	lnc-FPGT-3	chr1:73785151-73785323	XLOC_000256
11	lnc-FPGT-3	chr1:73772851-73773046	ENSG00000233973
12	lnc-FPGT-3	chr1:73772851-73773255	XLOC_000256
13	lnc-FPGT-3	chr1:73776536-73776673	ENSG00000233973
14	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
15	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
16	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
17	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
18	lnc-FPGT-3	chr1:73776535-73776673	NONHSAT003934
19	lnc-FPGT-3	chr1:73785150-73785344	NONHSAT003934
20	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
21	lnc-FPGT-3	chr1:73771634-73771980	NONHSAT003934
22	lnc-FPGT-3	chr1:73776536-73776673	XLOC_000256
23	lnc-FPGT-3	chr1:73772851-73773046	XLOC_000256
24	lnc-FPGT-3	chr1:73771821-73771980	XLOC_000256
25	lnc-FPGT-3	chr1:73771821-73771980	XLOC_000256

No data

Variant related genes	Relation type
ENSG00000233973	TF binding region
CEP68	miRNA target sites
CEP350	miRNA target sites
CERS2	miRNA target sites

Extended variants
information (count: 321 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111228478	chr1:73772894-73772895	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs10556948	chr1:73772905-73772906	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs3070527	chr1:73772906-73772907	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs568889953	chr1:73772909-73772910	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs547065369	chr1:73772910-73772911	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566956072	chr1:73772968-73772969	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs1475061	chr1:73772981-73772982	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4593766	chr1:73773043-73773044	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs6424545	chr1:73773048-73773049	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538115212	chr1:73773062-73773063	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs373357404	chr1:73773106-73773107	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs146398677	chr1:73773126-73773127	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs114932867	chr1:73773130-73773131	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs1475062	chr1:73773189-73773190	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs376786527	chr1:73773191-73773192	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs534729766	chr1:73773213-73773214	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs1475063	chr1:73773255-73773256	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs570195380	chr1:73776273-73776274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538778257	chr1:73776335-73776336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371326477	chr1:73776342-73776343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570637421	chr1:73776355-73776356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71655407	chr1:73776389-73776390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552617938	chr1:73776424-73776425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565770514	chr1:73776501-73776502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534695465	chr1:73776511-73776512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140930533	chr1:73776570-73776571	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs59349762	chr1:73776571-73776572	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs140190100	chr1:73776574-73776575	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs397766758	chr1:73776575-73776576	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs554496909	chr1:73776580-73776581	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs574402480	chr1:73776585-73776586	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs376837014	chr1:73776592-73776593	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs537320321	chr1:73776632-73776633	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs556900714	chr1:73776633-73776634	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs6424546	chr1:73776673-73776674	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545616875	chr1:73776677-73776678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6424547	chr1:73776696-73776697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs572920033	chr1:73776700-73776701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7528347	chr1:73776727-73776728	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs78758786	chr1:73776757-73776758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs369252051	chr1:73776761-73776762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184611872	chr1:73776800-73776801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148180279	chr1:73776809-73776810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373450711	chr1:73776830-73776831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550420951	chr1:73776839-73776840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6424548	chr1:73776850-73776851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs141940860	chr1:73776866-73776867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552300325	chr1:73776938-73776939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565839935	chr1:73776985-73776986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534754871	chr1:73777000-73777001	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73772800-73773200	Enhancers	Liver	Liver
2	chr1:73776200-73777000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:73776400-73776800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
4	chr1:73776400-73776800	Enhancers	Ovary	ovary
5	chr1:73776400-73777000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:73776400-73777200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:73776600-73777000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:73776600-73777000	Enhancers	Fetal Heart	heart
9	chr1:73776600-73777200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:73776600-73777200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:73792800-73795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:73799400-73800200	Enhancers	Liver	Liver
13	chr1:73799600-73800000	Active TSS	Duodenum Mucosa	Duodenum

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