Variant report

Variant	esv3400645
Chromosome Location	chr10:20014712-20015033
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	chr10:20014680-20014830	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 41 )

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	rs564241341	chr10:20014746-20014747	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs531519256	chr10:20014750-20014751	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550028829	chr10:20014767-20014768	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12357731	chr10:20014781-20014782	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79538628	chr10:20014790-20014791	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547331212	chr10:20014844-20014845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372926364	chr10:20014854-20014855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565544722	chr10:20014857-20014858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117773367	chr10:20014896-20014897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559714858	chr10:20014910-20014911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368465592	chr10:20014911-20014912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142316353	chr10:20014913-20014914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114016998	chr10:20014934-20014935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556377650	chr10:20014935-20014936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575035642	chr10:20014938-20014939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146456769	chr10:20014952-20014953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560509644	chr10:20014972-20014973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:20003400-20051400	Weak transcription	Fetal Intestine Large	intestine
2	chr10:20009000-20016400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr10:20011200-20015400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:20012600-20025200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:20014000-20015600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr10:20014400-20025000	Weak transcription	Fetal Intestine Small	intestine
7	chr10:20014800-20015000	Weak transcription	Primary hematopoietic stem cells	blood

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