Variant report

Variant	esv2156728
Chromosome Location	chr10:1088662-1089089
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	ARID3A	chr10:1089053-1089112	HepG2	liver:	n/a	n/a
2	CEBPB	chr10:1088606-1089196	K562	blood:	n/a	chr10:1089040-1089053 chr10:1089040-1089051
3	CEBPB	chr10:1088934-1089180	HepG2	liver:	n/a	chr10:1089040-1089053 chr10:1089040-1089051
4	NRF1	chr10:1088635-1088685	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:1088559-1088704	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:1088970-1092654	PBDE	blood:	n/a	n/a
7	POLR2A	chr10:1088966-1092589	IMR90	lung:	n/a	n/a
8	POLR2A	chr10:1088154-1088679	IMR90	lung:	n/a	n/a
9	POLR2A	chr10:1082282-1092534	K562	blood:	n/a	n/a
10	POLR2A	chr10:1088605-1088667	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr10:1088828-1092481	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr10:1088869-1090278	PFSK-1	brain:	n/a	n/a
13	WRNIP1	chr10:1088601-1088699	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:976152..979108-chr10:1085303..1088696,4	MCF-7	breast:
2	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
3	chr10:1082336..1085683-chr10:1088908..1090721,3	MCF-7	breast:

Variant related genes	Relation type
RNU7-163P	TF binding region
ENSG00000067064	chromatin interactions
ENSG00000107929	chromatin interactions
ENSG00000047056	chromatin interactions
ENSG00000229869	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374609861	chr10:1088670-1088671	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs78687080	chr10:1088676-1088677	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs118002486	chr10:1088692-1088693	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs11556790	chr10:1088703-1088704	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs200666232	chr10:1088707-1088708	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs7075188	chr10:1088746-1088747	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs199596847	chr10:1088749-1088750	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs7075193	chr10:1088759-1088760	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs577194013	chr10:1088779-1088780	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs114886926	chr10:1088796-1088797	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557358482	chr10:1088862-1088863	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs59963566	chr10:1088888-1088889	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs574230947	chr10:1088933-1088934	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs542865215	chr10:1088949-1088950	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559865264	chr10:1088971-1088972	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs7075492	chr10:1088981-1088982	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs545497221	chr10:1089077-1089078	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1060000-1091600	Weak transcription	Hela-S3	cervix
3	chr10:1063200-1092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr10:1067400-1089400	Weak transcription	Pancreas	Pancrea
5	chr10:1073400-1091800	Weak transcription	Fetal Heart	heart
6	chr10:1081600-1089600	Weak transcription	Psoas Muscle	Psoas
7	chr10:1081800-1089200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:1082000-1089800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:1082400-1088800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr10:1082400-1089000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr10:1082400-1089800	Strong transcription	Brain Germinal Matrix	brain
12	chr10:1082400-1090200	Strong transcription	Fetal Intestine Large	intestine
13	chr10:1082600-1089400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:1082600-1089400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr10:1082600-1089600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr10:1082600-1089800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:1082600-1090000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr10:1082600-1094000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr10:1082800-1088800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr10:1082800-1089000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr10:1082800-1089000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr10:1082800-1089400	Weak transcription	Gastric	stomach
23	chr10:1082800-1089600	Weak transcription	Right Atrium	heart
24	chr10:1082800-1090200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:1083000-1089400	Weak transcription	Esophagus	oesophagus
26	chr10:1083000-1089400	Strong transcription	Fetal Thymus	thymus
27	chr10:1083000-1090000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr10:1083000-1090400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:1083200-1089000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr10:1083200-1089200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:1083200-1089200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr10:1083200-1089200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr10:1083200-1090400	Strong transcription	NH-A	brain
34	chr10:1083400-1089200	Strong transcription	Liver	Liver
35	chr10:1083400-1089800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:1083400-1090000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:1083400-1092000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr10:1083600-1089000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:1083600-1089400	Strong transcription	Brain Anterior Caudate	brain
40	chr10:1083600-1090200	Weak transcription	Small Intestine	intestine
41	chr10:1083800-1089000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr10:1083800-1089200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:1083800-1090200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr10:1083800-1090400	Strong transcription	NHLF	lung
45	chr10:1084000-1089600	Strong transcription	Placenta	Placenta
46	chr10:1084000-1090200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr10:1084000-1090200	Weak transcription	Right Ventricle	heart
48	chr10:1084000-1091600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr10:1084000-1093400	Weak transcription	Aorta	Aorta
50	chr10:1084200-1089600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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