Variant report

Variant	esv1811559
Chromosome Location	chr7:110178548-110188354
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	CEBPB	chr7:110179284-110179632	IMR90	lung:	n/a	n/a
2	CEBPB	chr7:110182172-110182372	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr7:110182130-110182398	IMR90	lung:	n/a	n/a
4	CEBPB	chr7:110184991-110185190	A549	lung:	n/a	chr7:110185096-110185107
5	CEBPB	chr7:110184991-110185228	HepG2	liver:	n/a	chr7:110185096-110185107
6	CTCF	chr7:110184460-110184610	HAc	cerebellar:	n/a	n/a
7	CTCF	chr7:110184440-110184590	BJ	skin:	n/a	n/a
8	CTCF	chr7:110184393-110184593	IMR90	lung:	n/a	n/a
9	CTCF	chr7:110184400-110184550	AG04449	skin:	n/a	n/a
10	CTCF	chr7:110184480-110184630	BJ	skin:	n/a	n/a
11	FOS	chr7:110182034-110182384	MCF10A-Er-Src	breast:	n/a	chr7:110182229-110182241
12	FOS	chr7:110182014-110182437	MCF10A-Er-Src	breast:	n/a	chr7:110182229-110182241
13	FOS	chr7:110179387-110180272	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr7:110181962-110182437	MCF10A-Er-Src	breast:	n/a	chr7:110182229-110182241
15	FOS	chr7:110179947-110180246	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr7:110179940-110180211	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr7:110179952-110180212	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr7:110182012-110182431	MCF10A-Er-Src	breast:	n/a	chr7:110182229-110182241
19	GATA3	chr7:110180052-110180090	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr7:110181998-110182472	SK-N-SH	brain:	n/a	n/a
21	JUN	chr7:110186547-110186664	K562	blood:	n/a	n/a
22	KAP1	chr7:110179951-110180151	K562	blood:	n/a	n/a
23	MYC	chr7:110182093-110182384	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr7:110186651-110186747	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:110183843-110183902	MCF10A-Er-Src	breast:	n/a	n/a
26	RFX5	chr7:110180194-110180235	K562	blood:	n/a	n/a
27	STAT3	chr7:110181949-110182623	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr7:110182012-110182212	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr7:110181783-110182413	MCF10A-Er-Src	breast:	n/a	chr7:110181824-110181832
30	STAT3	chr7:110182011-110182354	MCF10A-Er-Src	breast:	n/a	n/a
31	STAT3	chr7:110182012-110182354	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr7:110181532-110181695	MCF10A-Er-Src	breast:	n/a	chr7:110181686-110181693

No.	Distal block	Cell Line	Cell type
1	chr7:110177934..110179982-chr7:110181081..110183744,2	K562	blood:
2	chr7:110177934..110179982-chr7:110181081..110183744,2	K562	blood:
3	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:
4	chr4:4482219..4482825-chr7:110184645..110185165,2	MCF-7	breast:
5	chr7:110182691..110184718-chr7:110187881..110190742,2	K562	blood:

Variant related genes	Relation type
ENSG00000226965	TF binding region

Extended variants
information (count: 321 )
Associated
traits (count: 89 )

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	rs10808165	chr7:110178548-110178549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192911137	chr7:110178571-110178572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555040959	chr7:110178577-110178578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575240926	chr7:110178579-110178580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145120195	chr7:110178683-110178684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146840351	chr7:110178695-110178696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377328943	chr7:110178704-110178705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184569719	chr7:110178759-110178760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543998426	chr7:110178825-110178826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73717109	chr7:110178860-110178861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73431230	chr7:110178893-110178894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540534649	chr7:110178925-110178926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2966422	chr7:110178950-110178951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528581967	chr7:110178971-110178972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548694138	chr7:110178977-110178978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542470071	chr7:110179040-110179041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530977547	chr7:110179047-110179048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143812332	chr7:110179052-110179053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563076970	chr7:110179055-110179056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368322478	chr7:110179056-110179057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568087500	chr7:110179072-110179073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539210190	chr7:110179098-110179099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575730679	chr7:110179157-110179158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75998582	chr7:110179159-110179160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535412939	chr7:110179198-110179199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553526708	chr7:110179256-110179257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566355521	chr7:110179273-110179274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545481668	chr7:110179334-110179335	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs189900810	chr7:110179359-110179360	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs562613991	chr7:110179461-110179462	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs555478700	chr7:110179549-110179550	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573196253	chr7:110179554-110179555	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs192843969	chr7:110179622-110179623	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs557343933	chr7:110179640-110179641	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs28478997	chr7:110179657-110179658	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs13244511	chr7:110179658-110179659	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs148098819	chr7:110179680-110179681	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs2966423	chr7:110179690-110179691	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs184632538	chr7:110179707-110179708	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs55735006	chr7:110179790-110179791	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs541950656	chr7:110179846-110179847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56407337	chr7:110179847-110179848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530767994	chr7:110179859-110179860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563820137	chr7:110179890-110179891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562979185	chr7:110179917-110179918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189394470	chr7:110179960-110179961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73431235	chr7:110179972-110179973	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs542199025	chr7:110180000-110180001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76855997	chr7:110180059-110180060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs547298582	chr7:110180114-110180115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Acute myeloid leukemia	16864856	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
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110175200-110182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:110175200-110188400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:110176000-110179400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:110176200-110180400	Weak transcription	HMEC	breast
5	chr7:110176200-110181000	Weak transcription	NHEK	skin
6	chr7:110179400-110180200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:110180200-110180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:110180400-110183200	Enhancers	HMEC	breast
9	chr7:110180600-110180800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:110180800-110182600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:110181000-110184600	Enhancers	NHEK	skin
12	chr7:110181400-110183200	Enhancers	NHLF	lung
13	chr7:110182000-110182600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:110182600-110182800	Enhancers	NH-A	brain
15	chr7:110182600-110183200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr7:110182600-110184200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:110182600-110185200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:110182800-110183000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:110182800-110183800	Weak transcription	NH-A	brain
20	chr7:110183000-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:110183200-110183600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:110183200-110183800	Weak transcription	HMEC	breast
23	chr7:110183200-110184000	Weak transcription	NHLF	lung
24	chr7:110183600-110185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:110183800-110184200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:110183800-110184400	Enhancers	HMEC	breast
27	chr7:110183800-110184400	Enhancers	NH-A	brain
28	chr7:110184000-110184200	Enhancers	NHLF	lung
29	chr7:110184200-110184600	Enhancers	Fetal Stomach	stomach
30	chr7:110184200-110188000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:110184400-110188600	Weak transcription	HMEC	breast
32	chr7:110184600-110188000	Weak transcription	NHEK	skin
33	chr7:110185200-110188200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:110185200-110188200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:110188000-110189000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:110188000-110189200	Enhancers	NHEK	skin
37	chr7:110188200-110188600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:110188200-110188800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:110188200-110189000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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