Variant report

Variant	esv20282
Chromosome Location	chr10:23635447-23636434
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	FOXM1	chr10:23634468-23635519	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr10:23634523-23635555	SK-N-SH	brain:	n/a	n/a
3	KAP1	chr10:23636404-23636819	HEK293	kidney:	n/a	n/a
4	POLR2A	chr10:23636102-23636848	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:23634663-23635479	MCF10A-Er-Src	breast:	n/a	n/a
6	SIN3AK20	chr10:23634748-23635451	MCF-7	breast:	n/a	n/a
7	TCF12	chr10:23634584-23635464	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
C10orf67	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559492555	chr10:23635477-23635478	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs528776436	chr10:23635495-23635496	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551620829	chr10:23635496-23635497	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs112922400	chr10:23635502-23635503	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs537451592	chr10:23635540-23635541	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs377739165	chr10:23635581-23635582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567731632	chr10:23635600-23635601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370063300	chr10:23635621-23635622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535672304	chr10:23635747-23635748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12256577	chr10:23635771-23635772	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs572233289	chr10:23635821-23635822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370794103	chr10:23635824-23635825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs183409834	chr10:23635828-23635829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34497603	chr10:23635883-23635884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551315237	chr10:23635907-23635908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115709972	chr10:23635913-23635914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150498777	chr10:23635926-23635927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114045169	chr10:23635990-23635991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563268152	chr10:23635992-23635993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187822204	chr10:23636056-23636057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2036918	chr10:23636067-23636068	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs2036919	chr10:23636106-23636107	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2036920	chr10:23636177-23636178	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs551706253	chr10:23636209-23636210	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs565565454	chr10:23636249-23636250	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs530842255	chr10:23636252-23636253	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs139463573	chr10:23636259-23636260	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs567521833	chr10:23636260-23636261	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs35041237	chr10:23636265-23636266	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs547075069	chr10:23636320-23636321	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536025329	chr10:23636324-23636325	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs565883624	chr10:23636368-23636369	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs544013609	chr10:23636414-23636415	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs2036921	chr10:23636418-23636419	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:38)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23633800-23635800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:23633800-23636400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr10:23633800-23636400	Weak transcription	Aorta	Aorta
4	chr10:23633800-23636400	Weak transcription	Ovary	ovary
5	chr10:23633800-23636400	Weak transcription	Psoas Muscle	Psoas
6	chr10:23633800-23636600	Weak transcription	Left Ventricle	heart
7	chr10:23633800-23636600	Enhancers	Hela-S3	cervix
8	chr10:23633800-23637400	Enhancers	Fetal Heart	heart
9	chr10:23633800-23638000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:23633800-23640400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr10:23633800-23640600	Weak transcription	Placenta	Placenta
12	chr10:23633800-23641000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr10:23634000-23635600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:23634000-23635600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:23634000-23635600	Enhancers	HMEC	breast
16	chr10:23634000-23635600	Enhancers	NHEK	skin
17	chr10:23634000-23635600	Enhancers	Osteobl	bone
18	chr10:23634000-23636400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:23634000-23636400	Enhancers	Brain Hippocampus Middle	brain
20	chr10:23634000-23636600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:23634400-23635600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:23634400-23641000	Weak transcription	HSMMtube	muscle
23	chr10:23634600-23636400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:23634600-23636800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:23634600-23640200	Weak transcription	NHLF	lung
26	chr10:23635200-23636200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr10:23635200-23636200	Weak transcription	Brain Anterior Caudate	brain
28	chr10:23635200-23636200	Weak transcription	Brain Cingulate Gyrus	brain
29	chr10:23635200-23636600	Weak transcription	HSMM	muscle
30	chr10:23635200-23637200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:23635200-23640600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:23635200-23643800	Weak transcription	Fetal Kidney	kidney
33	chr10:23635400-23636400	Weak transcription	Brain Angular Gyrus	brain
34	chr10:23635400-23636400	Weak transcription	NH-A	brain
35	chr10:23635400-23637000	Enhancers	HepG2	liver
36	chr10:23635400-23640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:23635400-23640600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:23635600-23635800	Enhancers	Right Atrium	heart
39	chr10:23635600-23636000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:23635600-23636400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr10:23635600-23640200	Weak transcription	NHEK	skin
42	chr10:23635600-23640400	Weak transcription	HMEC	breast
43	chr10:23635600-23640400	Weak transcription	Osteobl	bone
44	chr10:23635800-23640000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:23636000-23636400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr10:23636400-23636600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:23636400-23636600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr10:23636400-23636600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr10:23636400-23636600	Enhancers	Aorta	Aorta
50	chr10:23636400-23636600	Enhancers	Brain Angular Gyrus	brain

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