Variant report

Variant	esv1356116
Chromosome Location	chr10:1164141-1164313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1146970..1148515-chr10:1164276..1166796,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2170145	chr10:1164142-1164143	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs2170144	chr10:1164143-1164144	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs34627209	chr10:1164163-1164164	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111827833	chr10:1164173-1164174	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs2170143	chr10:1164189-1164190	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs574541777	chr10:1164215-1164216	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs111833485	chr10:1164239-1164240	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs112407070	chr10:1164255-1164256	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371192630	chr10:1164271-1164272	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113428829	chr10:1164283-1164284	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs540322812	chr10:1164290-1164291	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs71376890	chr10:1164313-1164314	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Autism	22495311	CNVD
Autism	22543975	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1117800-1168600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr10:1118000-1168400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr10:1118000-1173800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr10:1122200-1168400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr10:1122600-1168800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:1123000-1168600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:1123200-1178400	Strong transcription	Liver	Liver
8	chr10:1123400-1177800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr10:1124200-1178000	Strong transcription	Primary B cells from cord blood	blood
10	chr10:1127800-1179000	Strong transcription	Fetal Stomach	stomach
11	chr10:1129400-1179000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr10:1138600-1178600	Strong transcription	Adipose Nuclei	Adipose
13	chr10:1144800-1232600	Weak transcription	Right Atrium	heart
14	chr10:1146800-1167800	Weak transcription	Fetal Heart	heart
15	chr10:1149200-1173200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:1149600-1173600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:1153000-1165600	Strong transcription	Primary hematopoietic stem cells	blood
18	chr10:1153200-1175000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr10:1154000-1164600	Weak transcription	Fetal Brain Male	brain
20	chr10:1154000-1177200	Weak transcription	Stomach Mucosa	stomach
21	chr10:1156200-1168600	Strong transcription	Aorta	Aorta
22	chr10:1156400-1177400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr10:1156600-1165600	Strong transcription	Fetal Intestine Large	intestine
24	chr10:1156600-1169200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:1156600-1169200	Strong transcription	GM12878-XiMat	blood
26	chr10:1156600-1171800	Strong transcription	Osteobl	bone
27	chr10:1156600-1179000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:1156800-1164600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr10:1156800-1165600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr10:1156800-1165800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr10:1156800-1166200	Strong transcription	Fetal Intestine Small	intestine
32	chr10:1156800-1166200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr10:1156800-1168400	Strong transcription	Dnd41	blood
34	chr10:1156800-1170000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:1156800-1177800	Strong transcription	Spleen	Spleen
36	chr10:1156800-1178800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr10:1156800-1179400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr10:1157000-1171800	Strong transcription	NHEK	skin
39	chr10:1157000-1172600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:1157000-1177000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr10:1157000-1177600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr10:1157000-1178600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:1157000-1178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr10:1157400-1168400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:1157400-1177800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr10:1157400-1177800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr10:1157600-1165800	Strong transcription	Brain Hippocampus Middle	brain
48	chr10:1157600-1169200	Weak transcription	K562	blood
49	chr10:1157800-1168800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr10:1157800-1178200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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