Variant report

Variant	esv3421323
Chromosome Location	chr10:112745962-112750560
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	chr10:112748793-112749154	IMR90	lung:	n/a	n/a
2	FOS	chr10:112748711-112749111	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr10:112748746-112749118	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr10:112748767-112749134	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr10:112748746-112749149	MCF10A-Er-Src	breast:	n/a	n/a
6	GATA3	chr10:112746664-112746804	SH-SY5Y	brain:	n/a	n/a
7	MAFK	chr10:112748941-112749215	HepG2	liver:	n/a	n/a
8	MAFK	chr10:112748879-112749199	IMR90	lung:	n/a	n/a
9	MYC	chr10:112748735-112749052	MCF10A-Er-Src	breast:	n/a	n/a
10	MYC	chr10:112748860-112748987	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr10:112748445-112748654	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr10:112748903-112748994	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr10:112748845-112749045	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:112744001..112747517-chr10:112750803..112753417,3	MCF-7	breast:
2	chr10:112746021..112748310-chr10:112757696..112760493,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-548e-3p	chr10:112748736-112748757	MIMAT0005874
hsa-miR-548e-5p	chr10:112748698-112748719	MIMAT0026736

Variant related genes	Relation type
MIR548E	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577677518	chr10:112745963-112745964	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79632460	chr10:112746017-112746018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533243937	chr10:112746160-112746161	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571682093	chr10:112746211-112746212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112732298	chr10:112746292-112746293	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548071727	chr10:112746297-112746298	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554077339	chr10:112746334-112746335	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536890676	chr10:112746368-112746369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186354073	chr10:112746376-112746377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141596715	chr10:112746377-112746378	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147111187	chr10:112746388-112746389	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530577370	chr10:112746411-112746412	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551874614	chr10:112746425-112746426	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555699411	chr10:112746483-112746484	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190078798	chr10:112746509-112746510	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577223740	chr10:112746511-112746512	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180927628	chr10:112746524-112746525	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554078191	chr10:112746555-112746556	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117961802	chr10:112746558-112746559	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1927159	chr10:112746735-112746736	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs185201639	chr10:112746766-112746767	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs111888497	chr10:112746800-112746801	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs568276090	chr10:112746810-112746811	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576535535	chr10:112746837-112746838	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189759305	chr10:112746879-112746880	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs71938828	chr10:112746922-112746923	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs71489938	chr10:112746928-112746929	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532584098	chr10:112746955-112746956	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs547762033	chr10:112746957-112746958	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532520921	chr10:112747034-112747035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149608620	chr10:112747132-112747133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73345924	chr10:112747175-112747176	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548729567	chr10:112747176-112747177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555103848	chr10:112747187-112747188	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551207412	chr10:112747210-112747211	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184066547	chr10:112747218-112747219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537503106	chr10:112747242-112747243	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111900485	chr10:112747249-112747250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549515823	chr10:112747255-112747256	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112586202	chr10:112747256-112747257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368154446	chr10:112747327-112747328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570902576	chr10:112747336-112747337	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538664167	chr10:112747339-112747340	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553758852	chr10:112747449-112747450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551511600	chr10:112747460-112747461	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374023972	chr10:112747464-112747465	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189045695	chr10:112747493-112747494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375158782	chr10:112747510-112747511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372945842	chr10:112747528-112747529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565418291	chr10:112747542-112747543	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myxofibrosarcoma	16751306	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	16616336	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Barrett''s syndrome	19417022	CNVD
Sezary syndrome	18413736	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:198 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112700600-112764000	Weak transcription	Placenta	Placenta
2	chr10:112702400-112754800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:112705200-112789800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:112707200-112755000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:112707200-112784200	Weak transcription	Left Ventricle	heart
6	chr10:112709000-112760000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr10:112712600-112751200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:112712600-112755000	Weak transcription	Fetal Thymus	thymus
9	chr10:112712800-112751600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:112719400-112760800	Weak transcription	Fetal Muscle Leg	muscle
11	chr10:112719800-112759200	Weak transcription	Fetal Lung	lung
12	chr10:112723200-112783000	Weak transcription	Small Intestine	intestine
13	chr10:112724600-112748600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:112724800-112746600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr10:112724800-112760200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr10:112726600-112764000	Weak transcription	HUVEC	blood vessel
17	chr10:112727400-112764400	Weak transcription	Adipose Nuclei	Adipose
18	chr10:112727600-112748800	Weak transcription	NHDF-Ad	bronchial
19	chr10:112728200-112748400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:112732400-112763800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr10:112732600-112748400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr10:112732600-112789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:112732800-112746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr10:112732800-112746200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr10:112732800-112746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr10:112732800-112755000	Weak transcription	Fetal Intestine Large	intestine
27	chr10:112732800-112782800	Weak transcription	Esophagus	oesophagus
28	chr10:112732800-112789400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:112736400-112746400	Weak transcription	Fetal Stomach	stomach
30	chr10:112736400-112752000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr10:112737600-112751800	Weak transcription	Brain Substantia Nigra	brain
32	chr10:112738000-112782800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:112738200-112784600	Weak transcription	Ovary	ovary
34	chr10:112738400-112779400	Weak transcription	HepG2	liver
35	chr10:112738600-112748400	Weak transcription	NHLF	lung
36	chr10:112738600-112748800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:112738600-112751600	Weak transcription	HSMMtube	muscle
38	chr10:112738600-112752800	Weak transcription	Brain Hippocampus Middle	brain
39	chr10:112739000-112746200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr10:112739000-112751200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr10:112739200-112746400	Weak transcription	Liver	Liver
42	chr10:112739200-112748400	Weak transcription	HSMM	muscle
43	chr10:112739200-112752200	Weak transcription	NH-A	brain
44	chr10:112739200-112774400	Weak transcription	Gastric	stomach
45	chr10:112739400-112764400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr10:112739600-112769000	Weak transcription	Fetal Kidney	kidney
47	chr10:112739800-112748600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr10:112740000-112755000	Weak transcription	Aorta	Aorta
49	chr10:112740400-112746600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr10:112740400-112791800	Weak transcription	Colon Smooth Muscle	Colon

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