Variant report

Variant	esv2573324
Chromosome Location	chr10:1163453-1164910
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	GATA2	chr10:1163620-1163920	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr10:1164907-1165372	T-47D	breast:	n/a	n/a
3	MXI1	chr10:1163424-1164009	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr10:1164340-1165688	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr10:1163744-1164447	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:1163962-1164116	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:1163828-1164171	K562	blood:	n/a	n/a
8	POLR2A	chr10:1163809-1163944	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:1163812-1163819	K562	blood:	n/a	n/a
10	POLR2A	chr10:1164107-1164646	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:1164134-1164291	GM12878	blood:	n/a	n/a
12	POU2F2	chr10:1164156-1164566	GM12891	blood:	n/a	n/a
13	RAD21	chr10:1164874-1165319	SK-N-SH_RA	brain:	n/a	n/a
14	REST	chr10:1164849-1165425	MCF-7	breast:	n/a	chr10:1165122-1165131
15	REST	chr10:1163613-1164617	SK-N-SH	brain:	n/a	chr10:1163650-1163663 chr10:1163641-1163654
16	REST	chr10:1164860-1165394	MCF-7	breast:	n/a	chr10:1165122-1165131
17	REST	chr10:1164216-1164516	PANC-1	pancreas:	n/a	n/a
18	TCF3	chr10:1163685-1164395	GM12878	blood:	n/a	n/a
19	TEAD4	chr10:1164901-1165329	A549	lung:	n/a	n/a
20	ZBTB33	chr10:1163794-1164271	GM12878	blood:	n/a	n/a

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

Variant related genes	Relation type
WDR37	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113780506	chr10:1163517-1163518	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544299936	chr10:1163551-1163552	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2387300	chr10:1163598-1163599	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531488461	chr10:1163606-1163607	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552912910	chr10:1163634-1163635	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530145657	chr10:1163641-1163642	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546747234	chr10:1163680-1163681	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560313953	chr10:1163690-1163691	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs79462492	chr10:1163718-1163719	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375306293	chr10:1163748-1163749	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552820663	chr10:1163778-1163779	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531474866	chr10:1163797-1163798	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569478987	chr10:1163798-1163799	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191616936	chr10:1163802-1163803	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147836808	chr10:1163815-1163816	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs112661528	chr10:1163843-1163844	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11250269	chr10:1163854-1163855	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141418003	chr10:1163855-1163856	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554502349	chr10:1163870-1163871	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs113507537	chr10:1163875-1163876	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs576949303	chr10:1163901-1163902	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539281157	chr10:1163902-1163903	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111701269	chr10:1163911-1163912	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556392704	chr10:1163912-1163913	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs576272850	chr10:1163952-1163953	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs573360286	chr10:1163998-1163999	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544162095	chr10:1164016-1164017	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113658885	chr10:1164017-1164018	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs12769946	chr10:1164029-1164030	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs78115546	chr10:1164049-1164050	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530240634	chr10:1164053-1164054	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs61669717	chr10:1164055-1164056	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs12772198	chr10:1164067-1164068	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560951885	chr10:1164072-1164073	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113159899	chr10:1164083-1164084	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs112904920	chr10:1164111-1164112	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs2170145	chr10:1164142-1164143	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs2170144	chr10:1164143-1164144	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs34627209	chr10:1164163-1164164	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111827833	chr10:1164173-1164174	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs2170143	chr10:1164189-1164190	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs574541777	chr10:1164215-1164216	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs111833485	chr10:1164239-1164240	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs112407070	chr10:1164255-1164256	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs371192630	chr10:1164271-1164272	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113428829	chr10:1164283-1164284	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs540322812	chr10:1164290-1164291	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs71376890	chr10:1164313-1164314	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs112060949	chr10:1164335-1164336	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs566822765	chr10:1164340-1164341	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:170 , 50 per page) page: 1 2 3 4

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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