Variant report

Variant	esv10557
Chromosome Location	chr10:4290100-4291628
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	chr10:4290826-4290944	GM19238	blood:	n/a	chr10:4290882-4290903
2	CTCF	chr10:4290801-4290982	GM19239	blood:	n/a	chr10:4290882-4290903
3	CTCF	chr10:4290809-4290943	Spleen_OC	spleen:	n/a	chr10:4290882-4290903
4	CTCF	chr10:4290848-4290968	NHEK	skin:	n/a	chr10:4290882-4290903
5	CTCF	chr10:4290829-4290961	GM19240	blood:	n/a	chr10:4290882-4290903
6	POLR2A	chr10:4291608-4292536	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr10:4288772-4290113	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr10:4291570-4292399	IMR90	lung:	n/a	n/a
9	POLR2A	chr10:4287970-4290180	IMR90	lung:	n/a	n/a
10	TCF12	chr10:4288680-4290137	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
LINC00702	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530055953	chr10:4290134-4290135	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs182060084	chr10:4290328-4290329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563726620	chr10:4290329-4290330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138951379	chr10:4290378-4290379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372488977	chr10:4290454-4290455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552509978	chr10:4290498-4290499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186435070	chr10:4290501-4290502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540368763	chr10:4290502-4290503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552169730	chr10:4290503-4290504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372976709	chr10:4290555-4290556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528518000	chr10:4290649-4290650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12264861	chr10:4290662-4290663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568314168	chr10:4290810-4290811	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs535774763	chr10:4290825-4290826	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs77999857	chr10:4290845-4290846	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs191148540	chr10:4290860-4290861	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs77423508	chr10:4290869-4290870	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141405627	chr10:4290909-4290910	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs558484498	chr10:4290957-4290958	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs115901159	chr10:4290985-4290986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146436712	chr10:4291033-4291034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553249049	chr10:4291139-4291140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533685113	chr10:4291143-4291144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574660995	chr10:4291220-4291221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78555602	chr10:4291266-4291267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149390080	chr10:4291348-4291349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7089752	chr10:4291386-4291387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545880344	chr10:4291449-4291450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564098400	chr10:4291481-4291482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144726983	chr10:4291522-4291523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546668370	chr10:4291544-4291545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182526106	chr10:4291609-4291610	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4276000-4292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4285200-4291800	Weak transcription	Psoas Muscle	Psoas
3	chr10:4285600-4296200	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:4286000-4290200	Enhancers	HMEC	breast
5	chr10:4286000-4292400	Weak transcription	Right Ventricle	heart
6	chr10:4286000-4294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:4286800-4296200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr10:4288000-4290200	Enhancers	NHEK	skin
9	chr10:4288400-4291000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr10:4288600-4290600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr10:4288600-4291800	Weak transcription	Aorta	Aorta
12	chr10:4288800-4290200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:4289000-4293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr10:4289400-4290800	Enhancers	Fetal Thymus	thymus
15	chr10:4289400-4301400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:4289600-4296400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:4289800-4291600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr10:4289800-4291800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr10:4290000-4290200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:4290000-4290200	Enhancers	NHDF-Ad	bronchial
21	chr10:4290000-4290200	Enhancers	Osteobl	bone
22	chr10:4290000-4291600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:4290000-4291600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:4290000-4291600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr10:4290000-4291600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr10:4290000-4291600	Weak transcription	NH-A	brain
27	chr10:4290000-4291600	Weak transcription	NHLF	lung
28	chr10:4290000-4291800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr10:4290000-4291800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:4290000-4291800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr10:4290000-4291800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:4290000-4292200	Weak transcription	Hela-S3	cervix
33	chr10:4290000-4297800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr10:4290200-4291600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:4290200-4291600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:4290200-4291600	Weak transcription	HMEC	breast
37	chr10:4290200-4291600	Weak transcription	NHDF-Ad	bronchial
38	chr10:4290200-4291600	Weak transcription	NHEK	skin
39	chr10:4290200-4291600	Weak transcription	Osteobl	bone
40	chr10:4291000-4296400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:4291600-4291800	Enhancers	Rectal Smooth Muscle	rectum
42	chr10:4291600-4292000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:4291600-4292200	Enhancers	NH-A	brain
44	chr10:4291600-4292200	Enhancers	NHDF-Ad	bronchial
45	chr10:4291600-4292400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:4291600-4292600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:4291600-4292600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr10:4291600-4292600	Enhancers	NHLF	lung
49	chr10:4291600-4292600	Enhancers	Osteobl	bone
50	chr10:4291600-4293000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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