Variant report

Variant	esv3416196
Chromosome Location	chr10:19636961-19637524
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	CTCF	chr10:19636458-19636974	MCF-7	breast:	n/a	n/a
2	CTCF	chr10:19636431-19637040	SK-N-SH	brain:	n/a	n/a
3	MAFF	chr10:19636797-19637089	HepG2	liver:	n/a	n/a
4	MAFK	chr10:19636845-19637113	IMR90	lung:	n/a	n/a
5	MAFK	chr10:19636541-19637110	HepG2	liver:	n/a	n/a
6	MAFK	chr10:19636771-19637101	HepG2	liver:	n/a	n/a
7	RAD21	chr10:19636410-19637105	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr10:19636594-19636995	MCF-7	breast:	n/a	n/a

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540866965	chr10:19636961-19636962	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs143133028	chr10:19636977-19636978	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs572234840	chr10:19637008-19637009	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368360565	chr10:19637016-19637017	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs16918539	chr10:19637020-19637021	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564339351	chr10:19637058-19637059	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1577307	chr10:19637088-19637089	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371113813	chr10:19637092-19637093	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs192214757	chr10:19637111-19637112	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs147490647	chr10:19637128-19637129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183590316	chr10:19637130-19637131	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548060534	chr10:19637143-19637144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115976706	chr10:19637166-19637167	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34949607	chr10:19637212-19637213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113462058	chr10:19637213-19637214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533073101	chr10:19637214-19637215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188637216	chr10:19637318-19637319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12573270	chr10:19637328-19637329	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs537017144	chr10:19637333-19637334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192804424	chr10:19637351-19637352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184957143	chr10:19637369-19637370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534601052	chr10:19637379-19637380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200877218	chr10:19637393-19637394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539921817	chr10:19637396-19637397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558000542	chr10:19637397-19637398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552789483	chr10:19637429-19637430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19587800-19637800	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19615000-19657000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19619000-19639400	Weak transcription	HepG2	liver
4	chr10:19635800-19638200	Strong transcription	Fetal Intestine Large	intestine

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