Variant report

Variant	esv20391
Chromosome Location	chr7:118590992-118599039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:118597665-118597936	HepG2	liver:	n/a	chr7:118597811-118597822
2	CTCF	chr7:118596580-118596730	RPTEC	kidney:	n/a	n/a
3	CTCF	chr7:118591234-118591257	MCF-7	breast:	n/a	n/a
4	CTCF	chr7:118596380-118596530	HRE	kidney:	n/a	n/a
5	CTCF	chr7:118596548-118596575	HepG2	liver:	n/a	n/a
6	CTCF	chr7:118596400-118596550	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr7:118596341-118596592	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr7:118596320-118596470	RPTEC	kidney:	n/a	n/a
9	CTCF	chr7:118597676-118597731	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr7:118596460-118596610	HMEC	breast:	n/a	n/a
11	CTCF	chr7:118596440-118596590	HRPEpiC	eye:	n/a	n/a
12	MYC	chr7:118591143-118591282	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:118591182-118591297	MCF-7	breast:	n/a	n/a
14	POLR2A	chr7:118591185-118591317	Gliobla	brain:	n/a	n/a
15	POLR2A	chr7:118591199-118591266	A549	lung:	n/a	n/a
16	POLR2A	chr7:118594732-118594777	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr7:118596466-118596666	H1-hESC	embryonic stem cell:	n/a	n/a
18	SPI1	chr7:118593739-118594050	HL-60	blood:	n/a	n/a
19	SPI1	chr7:118593768-118593956	GM12878	blood:	n/a	n/a
20	SPI1	chr7:118593791-118593911	K562	blood:	n/a	n/a
21	STAT3	chr7:118593146-118593346	MCF10A-Er-Src	breast:	n/a	n/a
22	ZNF143	chr7:118592260-118592450	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTTNBP2-6	chr7:118590440-118591313	NONHSAT122979

No data

Variant related genes	Relation type
ENSG00000230520	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6978340	chr7:118591040-118591041	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538441033	chr7:118591062-118591063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs6958152	chr7:118591074-118591075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs529152044	chr7:118591146-118591147	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs148734604	chr7:118591149-118591150	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs112597880	chr7:118591179-118591180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs559565646	chr7:118591202-118591203	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs562458325	chr7:118591215-118591216	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs574863151	chr7:118591286-118591287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs540665666	chr7:118591301-118591302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs142361876	chr7:118591310-118591311	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs535077373	chr7:118591312-118591313	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs146649408	chr7:118592275-118592276	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs577289343	chr7:118592341-118592342	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs193235149	chr7:118592379-118592380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs6466680	chr7:118592423-118592424	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs77814515	chr7:118592425-118592426	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376249440	chr7:118592437-118592438	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs78937461	chr7:118592438-118592439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375286934	chr7:118593151-118593152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534002890	chr7:118593241-118593242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554088806	chr7:118593256-118593257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs7801839	chr7:118593275-118593276	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7458140	chr7:118593290-118593291	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs188640239	chr7:118593772-118593773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs564614933	chr7:118593793-118593794	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs369570354	chr7:118593827-118593828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs3905381	chr7:118593860-118593861	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562464666	chr7:118593961-118593962	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs143500782	chr7:118594000-118594001	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs182278409	chr7:118594749-118594750	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs73475835	chr7:118594758-118594759	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187194692	chr7:118594772-118594773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542487545	chr7:118596224-118596225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559251296	chr7:118596251-118596252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183862302	chr7:118596263-118596264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374328552	chr7:118596320-118596321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146971313	chr7:118596354-118596355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572432226	chr7:118596361-118596362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs71153457	chr7:118596364-118596365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9886170	chr7:118596433-118596434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551154026	chr7:118596449-118596450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571713982	chr7:118596460-118596461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530865884	chr7:118596484-118596485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551107556	chr7:118596495-118596496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567829285	chr7:118596523-118596524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536864138	chr7:118596537-118596538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138961216	chr7:118596618-118596619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117704176	chr7:118596639-118596640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567210685	chr7:118596693-118596694	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118596200-118597000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:118597600-118597800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:118597600-118598600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:118598400-118598600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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