Variant report

Variant	nsv549858
Chromosome Location	chr10:4289489-4291584
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	chr10:4288948-4289680	IMR90	lung:	n/a	n/a
2	CTCF	chr10:4290809-4290943	Spleen_OC	spleen:	n/a	chr10:4290882-4290903
3	CTCF	chr10:4290826-4290944	GM19238	blood:	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	CTCF	chr10:4290801-4290982	GM19239	blood:	n/a	chr10:4290882-4290903
7	E2F4	chr10:4289182-4289539	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr10:4288679-4289994	SK-N-SH	brain:	n/a	chr10:4289856-4289864 chr10:4288827-4288841 chr10:4289446-4289460
9	EP300	chr10:4288964-4289611	SK-N-SH_RA	brain:	n/a	chr10:4289446-4289460
10	EP300	chr10:4288839-4289798	SK-N-SH	brain:	n/a	chr10:4289446-4289460
11	EP300	chr10:4288973-4289853	SK-N-SH_RA	brain:	n/a	chr10:4289446-4289460
12	EP300	chr10:4289620-4289919	SK-N-SH_RA	brain:	n/a	chr10:4289856-4289864
13	FOS	chr10:4289066-4289549	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
14	FOS	chr10:4289128-4289491	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
15	FOS	chr10:4288919-4289875	HUVEC	blood vessel:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
16	FOS	chr10:4289031-4289502	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
17	FOSL2	chr10:4288756-4289751	SK-N-SH	brain:	n/a	n/a
18	FOXM1	chr10:4288703-4290073	SK-N-SH	brain:	n/a	n/a
19	FOXM1	chr10:4288893-4289722	SK-N-SH	brain:	n/a	n/a
20	GATA2	chr10:4288908-4289508	HUVEC	blood vessel:	n/a	chr10:4289448-4289458
21	GATA3	chr10:4288589-4290098	SK-N-SH	brain:	n/a	chr10:4289448-4289458
22	GATA3	chr10:4288736-4290061	SK-N-SH	brain:	n/a	chr10:4289448-4289458
23	JUND	chr10:4288765-4289973	SK-N-SH	brain:	n/a	chr10:4289311-4289322
24	JUND	chr10:4288664-4290065	SK-N-SH	brain:	n/a	chr10:4289311-4289322
25	JUND	chr10:4288742-4289703	SK-N-SH	brain:	n/a	chr10:4289311-4289322
26	MAFK	chr10:4288853-4289805	IMR90	lung:	n/a	n/a
27	MAX	chr10:4288867-4289750	SK-N-SH	brain:	n/a	chr10:4289158-4289167
28	MAX	chr10:4288874-4289779	SK-N-SH	brain:	n/a	chr10:4289158-4289167
29	MEF2A	chr10:4288855-4289998	SK-N-SH	brain:	n/a	chr10:4288922-4288931 chr10:4289011-4289032 chr10:4288921-4288932 chr10:4288920-4288931 chr10:4289013-4289027 chr10:4289015-4289026 chr10:4289016-4289025 chr10:4289014-4289025
30	NFIC	chr10:4288737-4290060	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr10:4288783-4290065	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr10:4288865-4290034	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr10:4288916-4289683	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr10:4289266-4289565	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr10:4289063-4289842	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr10:4289307-4290005	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr10:4289328-4289549	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr10:4288880-4289571	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr10:4289483-4289524	ProgFib	skin:	n/a	n/a
40	POLR2A	chr10:4287970-4290180	IMR90	lung:	n/a	n/a
41	POLR2A	chr10:4291570-4292399	IMR90	lung:	n/a	n/a
42	POLR2A	chr10:4288834-4289974	U87	brain:	n/a	n/a
43	POLR2A	chr10:4288772-4290113	SK-N-SH	brain:	n/a	n/a
44	RAD21	chr10:4288975-4289590	SK-N-SH_RA	brain:	n/a	n/a
45	RAD21	chr10:4288892-4289616	IMR90	lung:	n/a	n/a
46	RAD21	chr10:4288995-4289659	SK-N-SH_RA	brain:	n/a	n/a
47	RXRA	chr10:4288821-4289698	SK-N-SH	brain:	n/a	n/a
48	STAT3	chr10:4289173-4289615	MCF10A-Er-Src	breast:	n/a	chr10:4289451-4289462
49	TAF1	chr10:4289082-4289657	SK-N-SH	brain:	n/a	n/a
50	TAF1	chr10:4289336-4289678	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
LINC00702	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1570291	chr10:4289489-4289490	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541940120	chr10:4289506-4289507	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs117868233	chr10:4289583-4289584	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs115693554	chr10:4289584-4289585	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377158084	chr10:4289593-4289594	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150071684	chr10:4289598-4289599	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs527757743	chr10:4289611-4289612	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577360919	chr10:4289622-4289623	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77614905	chr10:4289623-4289624	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs185900447	chr10:4289624-4289625	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs574756605	chr10:4289667-4289668	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568426119	chr10:4289673-4289674	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs369552847	chr10:4289680-4289681	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs145411011	chr10:4289708-4289709	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6601824	chr10:4289738-4289739	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs115077796	chr10:4289749-4289750	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs565118211	chr10:4289757-4289758	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs140155767	chr10:4289766-4289767	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs143189115	chr10:4289773-4289774	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs146654385	chr10:4289804-4289805	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs529971309	chr10:4289854-4289855	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548574402	chr10:4289874-4289875	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140306866	chr10:4289876-4289877	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs79194331	chr10:4289881-4289882	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs143485623	chr10:4289882-4289883	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs571057132	chr10:4289886-4289887	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs534903880	chr10:4289889-4289890	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs553123052	chr10:4289904-4289905	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs150994883	chr10:4289931-4289932	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs535710132	chr10:4289949-4289950	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377521908	chr10:4289968-4289969	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs575927476	chr10:4289973-4289974	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs140835393	chr10:4289979-4289980	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs6601825	chr10:4289986-4289987	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191064641	chr10:4290018-4290019	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs150128291	chr10:4290035-4290036	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs559550133	chr10:4290041-4290042	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530055953	chr10:4290134-4290135	Weak transcription Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs182060084	chr10:4290328-4290329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563726620	chr10:4290329-4290330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138951379	chr10:4290378-4290379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372488977	chr10:4290454-4290455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552509978	chr10:4290498-4290499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186435070	chr10:4290501-4290502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540368763	chr10:4290502-4290503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552169730	chr10:4290503-4290504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372976709	chr10:4290555-4290556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528518000	chr10:4290649-4290650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12264861	chr10:4290662-4290663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568314168	chr10:4290810-4290811	Weak transcription Enhancers	TF binding region	1 gene(s)	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:76 , 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	chr10:4286000-4289600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr10:4286000-4290200	Enhancers	HMEC	breast
6	chr10:4286000-4292400	Weak transcription	Right Ventricle	heart
7	chr10:4286000-4294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr10:4286800-4296200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:4287200-4289800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr10:4288000-4289800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr10:4288000-4289800	Enhancers	HUVEC	blood vessel
12	chr10:4288000-4290000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:4288000-4290000	Enhancers	Hela-S3	cervix
14	chr10:4288000-4290200	Enhancers	NHEK	skin
15	chr10:4288200-4290000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:4288400-4290000	Enhancers	NHLF	lung
17	chr10:4288400-4291000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr10:4288600-4289800	Enhancers	Colon Smooth Muscle	Colon
19	chr10:4288600-4289800	Enhancers	Fetal Heart	heart
20	chr10:4288600-4290000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:4288600-4290000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr10:4288600-4290600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr10:4288600-4291800	Weak transcription	Aorta	Aorta
24	chr10:4288800-4290000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:4288800-4290200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr10:4289000-4289600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:4289000-4289800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr10:4289000-4289800	Enhancers	Rectal Smooth Muscle	rectum
29	chr10:4289000-4293000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr10:4289200-4289600	Enhancers	Ovary	ovary
31	chr10:4289200-4289800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr10:4289400-4289600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:4289400-4289600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr10:4289400-4289600	Enhancers	Right Atrium	heart
35	chr10:4289400-4289600	Flanking Active TSS	HSMMtube	muscle
36	chr10:4289400-4289800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:4289400-4289800	Enhancers	Adipose Nuclei	Adipose
38	chr10:4289400-4289800	Flanking Active TSS	HSMM	muscle
39	chr10:4289400-4289800	Flanking Active TSS	NH-A	brain
40	chr10:4289400-4290000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:4289400-4290000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:4289400-4290000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr10:4289400-4290000	Flanking Active TSS	Osteobl	bone
44	chr10:4289400-4290800	Enhancers	Fetal Thymus	thymus
45	chr10:4289400-4301400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr10:4289600-4289800	Enhancers	HSMMtube	muscle
47	chr10:4289600-4290000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:4289600-4290000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr10:4289600-4296400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:4289800-4290000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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