Variant report

Variant	esv991512
Chromosome Location	chr10:1091806-1091819
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	FOXA1	chr10:1091611-1091935	HepG2	liver:	n/a	n/a
2	FOXA1	chr10:1091535-1091895	HepG2	liver:	n/a	n/a
3	FOXA2	chr10:1091613-1091888	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:1089350-1092506	A549	lung:	n/a	n/a
5	POLR2A	chr10:1088828-1092481	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr10:1091599-1091819	HepG2	liver:	n/a	n/a
7	POLR2A	chr10:1091598-1092358	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:1089125-1092500	GM12891	blood:	n/a	n/a
9	POLR2A	chr10:1091309-1091960	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr10:1082282-1092534	K562	blood:	n/a	n/a
11	POLR2A	chr10:1091307-1092464	HepG2	liver:	n/a	n/a
12	POLR2A	chr10:1088966-1092589	IMR90	lung:	n/a	n/a
13	POLR2A	chr10:1088970-1092654	PBDE	blood:	n/a	n/a
14	POLR2A	chr10:1091711-1092497	GM12878	blood:	n/a	n/a
15	POLR2A	chr10:1091569-1092659	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:1091529-1092494	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
2	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:

Variant related genes	Relation type
WDR37	TF binding region
RNU7-163P	TF binding region
ENSG00000067064	chromatin interactions
ENSG00000047056	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 55 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144000614	chr10:1091807-1091808	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1063200-1092000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:1082600-1094000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:1083400-1092000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr10:1084000-1093400	Weak transcription	Aorta	Aorta
6	chr10:1084200-1093400	Weak transcription	Thymus	Thymus
7	chr10:1087000-1092200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:1088000-1093400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:1088800-1092000	Weak transcription	Colon Smooth Muscle	Colon
10	chr10:1089200-1092800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr10:1089400-1093600	Weak transcription	Fetal Kidney	kidney
12	chr10:1089600-1092200	Weak transcription	Osteobl	bone
13	chr10:1089600-1092600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr10:1089600-1093600	Weak transcription	Placenta	Placenta
15	chr10:1089800-1092000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr10:1089800-1092200	Weak transcription	Colonic Mucosa	Colon
17	chr10:1089800-1092200	Weak transcription	Ovary	ovary
18	chr10:1089800-1092200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:1089800-1093400	Weak transcription	Fetal Intestine Small	intestine
20	chr10:1089800-1093400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr10:1090000-1092000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:1090000-1092200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:1090000-1092200	Enhancers	Adipose Nuclei	Adipose
24	chr10:1090000-1092200	Weak transcription	Esophagus	oesophagus
25	chr10:1090000-1092600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:1090000-1092600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr10:1090000-1093400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr10:1090000-1093400	Weak transcription	HSMMtube	muscle
29	chr10:1090000-1093600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:1090000-1093600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr10:1090200-1092000	Weak transcription	Fetal Intestine Large	intestine
32	chr10:1090200-1092200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr10:1090200-1092400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr10:1090200-1092600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:1090200-1092600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:1090200-1092600	Transcr. at gene 5' and 3'	Dnd41	blood
37	chr10:1090200-1092800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr10:1090200-1092800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr10:1090400-1092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr10:1090400-1092200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:1090400-1092400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:1090400-1092400	Enhancers	Primary T cells from cord blood	blood
43	chr10:1090400-1092400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:1090400-1092400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr10:1090400-1092800	Enhancers	Primary B cells from peripheral blood	blood
46	chr10:1090400-1092800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr10:1090400-1093400	Weak transcription	Psoas Muscle	Psoas
48	chr10:1090600-1092000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:1090600-1092200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr10:1090600-1092400	Enhancers	Primary hematopoietic stem cells	blood

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