Variant report

Variant	esv3317084
Chromosome Location	chr10:4288052-4293650
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	chr10:4292740-4292819	HepG2	liver:	n/a	chr10:4292773-4292784
2	CEBPB	chr10:4288948-4289680	IMR90	lung:	n/a	n/a
3	CTCF	chr10:4290829-4290961	GM19240	blood:	n/a	chr10:4290882-4290903
4	CTCF	chr10:4288960-4289110	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr10:4288940-4289090	BJ	skin:	n/a	n/a
6	CTCF	chr10:4290848-4290968	NHEK	skin:	n/a	chr10:4290882-4290903
7	CTCF	chr10:4288960-4289110	AG04449	skin:	n/a	n/a
8	CTCF	chr10:4288940-4289090	HCPEpiC	choroid plexus:	n/a	n/a
9	CTCF	chr10:4288900-4289050	HCFaa	heart:	n/a	n/a
10	CTCF	chr10:4288940-4289090	AG10803	skin:	n/a	n/a
11	CTCF	chr10:4288960-4289110	AoAF	blood vessel:	n/a	n/a
12	CTCF	chr10:4288980-4289130	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr10:4290801-4290982	GM19239	blood:	n/a	chr10:4290882-4290903
14	CTCF	chr10:4290826-4290944	GM19238	blood:	n/a	chr10:4290882-4290903
15	CTCF	chr10:4288940-4289090	HMF	breast:	n/a	n/a
16	CTCF	chr10:4288900-4289050	AoAF	blood vessel:	n/a	n/a
17	CTCF	chr10:4290809-4290943	Spleen_OC	spleen:	n/a	chr10:4290882-4290903
18	E2F4	chr10:4289182-4289539	MCF10A-Er-Src	breast:	n/a	n/a
19	EP300	chr10:4288973-4289853	SK-N-SH_RA	brain:	n/a	chr10:4289446-4289460
20	EP300	chr10:4288839-4289798	SK-N-SH	brain:	n/a	chr10:4289446-4289460
21	EP300	chr10:4289620-4289919	SK-N-SH_RA	brain:	n/a	chr10:4289856-4289864
22	EP300	chr10:4288964-4289611	SK-N-SH_RA	brain:	n/a	chr10:4289446-4289460
23	EP300	chr10:4288679-4289994	SK-N-SH	brain:	n/a	chr10:4289856-4289864 chr10:4288827-4288841 chr10:4289446-4289460
24	FOS	chr10:4291998-4292950	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr10:4289128-4289491	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
26	FOS	chr10:4292040-4292659	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr10:4289031-4289502	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
28	FOS	chr10:4291998-4292904	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr10:4289066-4289549	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
30	FOS	chr10:4292007-4292946	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr10:4288919-4289875	HUVEC	blood vessel:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
32	FOS	chr10:4289121-4289472	MCF10A-Er-Src	breast:	n/a	chr10:4289311-4289322 chr10:4289289-4289300
33	FOSL2	chr10:4288933-4289469	SK-N-SH	brain:	n/a	n/a
34	FOSL2	chr10:4288756-4289751	SK-N-SH	brain:	n/a	n/a
35	FOXM1	chr10:4288893-4289722	SK-N-SH	brain:	n/a	n/a
36	FOXM1	chr10:4288703-4290073	SK-N-SH	brain:	n/a	n/a
37	GATA2	chr10:4288908-4289508	HUVEC	blood vessel:	n/a	chr10:4289448-4289458
38	GATA3	chr10:4288589-4290098	SK-N-SH	brain:	n/a	chr10:4289448-4289458
39	GATA3	chr10:4288736-4290061	SK-N-SH	brain:	n/a	chr10:4289448-4289458
40	JUN	chr10:4289075-4289463	HUVEC	blood vessel:	n/a	n/a
41	JUN	chr10:4292747-4292943	HepG2	liver:	n/a	chr10:4292770-4292783
42	JUND	chr10:4288765-4289973	SK-N-SH	brain:	n/a	chr10:4289311-4289322
43	JUND	chr10:4289270-4289348	HepG2	liver:	n/a	chr10:4289311-4289322
44	JUND	chr10:4288664-4290065	SK-N-SH	brain:	n/a	chr10:4289311-4289322
45	JUND	chr10:4292748-4292929	HepG2	liver:	n/a	n/a
46	JUND	chr10:4288742-4289703	SK-N-SH	brain:	n/a	chr10:4289311-4289322
47	MAFK	chr10:4293107-4293307	IMR90	lung:	n/a	chr10:4293178-4293193 chr10:4293183-4293194
48	MAFK	chr10:4288853-4289805	IMR90	lung:	n/a	n/a
49	MAFK	chr10:4293022-4293259	HepG2	liver:	n/a	chr10:4293178-4293193 chr10:4293183-4293194
50	MAX	chr10:4288867-4289750	SK-N-SH	brain:	n/a	chr10:4289158-4289167

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:3824875..3826995-chr10:4293449..4295482,2	MCF-7	breast:

Variant related genes	Relation type
LINC00702	TF binding region

Extended variants
information (count: 227 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144571579	chr10:4288126-4288127	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532086542	chr10:4288155-4288156	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552124531	chr10:4288157-4288158	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs544096239	chr10:4288164-4288165	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs563086660	chr10:4288174-4288175	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs146696152	chr10:4288177-4288178	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551057122	chr10:4288180-4288181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs566253866	chr10:4288206-4288207	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs576098019	chr10:4288229-4288230	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs531727566	chr10:4288234-4288235	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs548774732	chr10:4288299-4288300	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs551832844	chr10:4288315-4288316	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs571747271	chr10:4288317-4288318	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537797809	chr10:4288321-4288322	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs75856356	chr10:4288323-4288324	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs150353869	chr10:4288324-4288325	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs539036629	chr10:4288325-4288326	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565107901	chr10:4288350-4288351	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374163048	chr10:4288358-4288359	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565865082	chr10:4288362-4288363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs138026205	chr10:4288379-4288380	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs543137159	chr10:4288395-4288396	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs555251164	chr10:4288402-4288403	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs149543486	chr10:4288420-4288421	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs368035591	chr10:4288423-4288424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs79843818	chr10:4288456-4288457	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs10795145	chr10:4288506-4288507	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs532667114	chr10:4288530-4288531	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs114294535	chr10:4288550-4288551	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs559677027	chr10:4288594-4288595	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs143181193	chr10:4288617-4288618	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs10795146	chr10:4288645-4288646	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs568558876	chr10:4288664-4288665	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs537617648	chr10:4288674-4288675	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529959451	chr10:4288676-4288677	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs77764088	chr10:4288690-4288691	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs34278020	chr10:4288700-4288701	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs12251561	chr10:4288719-4288720	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549673805	chr10:4288721-4288722	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs571537739	chr10:4288738-4288739	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs138887523	chr10:4288856-4288857	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs554250583	chr10:4288868-4288869	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs563699728	chr10:4288903-4288904	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530937289	chr10:4288936-4288937	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs557382799	chr10:4288953-4288954	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs189422227	chr10:4289087-4289088	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs143836635	chr10:4289090-4289091	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555085454	chr10:4289102-4289103	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs10751964	chr10:4289110-4289111	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371723374	chr10:4289117-4289118	Weak transcription Enhancers Active TSS Flanking Active TSS	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:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4276000-4292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4285200-4288200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr10:4285200-4288600	Weak transcription	Fetal Thymus	thymus
4	chr10:4285200-4288800	Weak transcription	Ovary	ovary
5	chr10:4285200-4291800	Weak transcription	Psoas Muscle	Psoas
6	chr10:4285400-4288200	Weak transcription	Left Ventricle	heart
7	chr10:4285400-4288600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:4285600-4296200	Weak transcription	Fetal Muscle Leg	muscle
9	chr10:4285800-4288600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:4285800-4289400	Weak transcription	Adipose Nuclei	Adipose
11	chr10:4286000-4288200	Weak transcription	Aorta	Aorta
12	chr10:4286000-4288600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr10:4286000-4288600	Enhancers	Osteobl	bone
14	chr10:4286000-4289000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr10:4286000-4289600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr10:4286000-4290200	Enhancers	HMEC	breast
17	chr10:4286000-4292400	Weak transcription	Right Ventricle	heart
18	chr10:4286000-4294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr10:4286200-4289400	Enhancers	HSMM	muscle
20	chr10:4286400-4288600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr10:4286400-4289000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr10:4286800-4288200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:4286800-4288200	Weak transcription	Right Atrium	heart
24	chr10:4286800-4288600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:4286800-4288600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:4286800-4289000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr10:4286800-4296200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr10:4287000-4288600	Weak transcription	Colon Smooth Muscle	Colon
29	chr10:4287000-4288600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr10:4287000-4288800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:4287000-4289400	Enhancers	NHDF-Ad	bronchial
32	chr10:4287200-4288400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr10:4287200-4288400	Weak transcription	NHLF	lung
34	chr10:4287200-4288600	Weak transcription	Fetal Heart	heart
35	chr10:4287200-4289800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:4287400-4288200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:4287400-4288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:4287600-4288600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:4287800-4289400	Enhancers	NH-A	brain
40	chr10:4288000-4289000	Enhancers	HSMMtube	muscle
41	chr10:4288000-4289800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr10:4288000-4289800	Enhancers	HUVEC	blood vessel
43	chr10:4288000-4290000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr10:4288000-4290000	Enhancers	Hela-S3	cervix
45	chr10:4288000-4290200	Enhancers	NHEK	skin
46	chr10:4288200-4288400	Enhancers	Left Ventricle	heart
47	chr10:4288200-4288400	Enhancers	Right Atrium	heart
48	chr10:4288200-4288600	Enhancers	Aorta	Aorta
49	chr10:4288200-4288800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr10:4288200-4289000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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