Variant report

Variant	nsv947755
Chromosome Location	chr10:19483235-19492266
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	CEBPB	chr10:19483831-19484090	HepG2	liver:	n/a	chr10:19483936-19483947
2	CTCF	chr10:19484940-19485090	Caco-2	colon:	n/a	n/a
3	GATA2	chr10:19483876-19484122	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr10:19483677-19484309	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr10:19483891-19484091	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr10:19483728-19484318	SK-N-SH	brain:	n/a	n/a
7	JUN	chr10:19491484-19491628	K562	blood:	n/a	n/a
8	MYC	chr10:19488977-19488981	MCF-7	breast:	n/a	n/a
9	NRF1	chr10:19491531-19491685	GM12878	blood:	n/a	n/a
10	POLR2A	chr10:19488964-19488986	MCF-7	breast:	n/a	n/a
11	POLR2A	chr10:19488960-19489009	MCF-7	breast:	n/a	n/a
12	SPI1	chr10:19484654-19484989	GM12878	blood:	n/a	n/a
13	SPI1	chr10:19484693-19484997	HL-60	blood:	n/a	n/a
14	ZNF384	chr10:19489528-19489603	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
MALRD1	TF binding region

Extended variants
information (count: 416 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575197534	chr10:19483267-19483268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188227635	chr10:19483321-19483322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138500240	chr10:19483341-19483342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573247555	chr10:19483355-19483356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114525790	chr10:19483359-19483360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192979493	chr10:19483363-19483364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560914080	chr10:19483372-19483373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532619391	chr10:19483403-19483404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542634878	chr10:19483439-19483440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550617366	chr10:19483441-19483442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184656858	chr10:19483445-19483446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529692865	chr10:19483448-19483449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189638689	chr10:19483465-19483466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141739313	chr10:19483537-19483538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12261543	chr10:19483553-19483554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs79203045	chr10:19483569-19483570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570595866	chr10:19483678-19483679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532315388	chr10:19483715-19483716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs180804604	chr10:19483762-19483763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146254626	chr10:19483773-19483774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531410880	chr10:19483792-19483793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575361765	chr10:19483830-19483831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11008880	chr10:19483854-19483855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565005254	chr10:19483884-19483885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11008881	chr10:19483899-19483900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551957017	chr10:19483907-19483908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571499228	chr10:19483951-19483952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377588110	chr10:19483960-19483961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113695229	chr10:19483981-19483982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200163134	chr10:19483983-19483984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs139364237	chr10:19483997-19483998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11008883	chr10:19484025-19484026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527572405	chr10:19484088-19484089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55654735	chr10:19484100-19484101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183468488	chr10:19484106-19484107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544508543	chr10:19484124-19484125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562569307	chr10:19484165-19484166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529859277	chr10:19484169-19484170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534206291	chr10:19484172-19484173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142665912	chr10:19484185-19484186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563775343	chr10:19484188-19484189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144218111	chr10:19484242-19484243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527303795	chr10:19484247-19484248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148721335	chr10:19484267-19484268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570686695	chr10:19484287-19484288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189415484	chr10:19484298-19484299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549756213	chr10:19484299-19484300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569000564	chr10:19484326-19484327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536305530	chr10:19484365-19484366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554646000	chr10:19484366-19484367	Weak 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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19438400-19489000	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19477800-19492200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19481200-19488400	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19486400-19486800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr10:19487600-19496800	Weak transcription	Small Intestine	intestine
6	chr10:19488400-19490000	Enhancers	Fetal Intestine Large	intestine
7	chr10:19488800-19489200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:19489000-19489600	Enhancers	Fetal Intestine Small	intestine
9	chr10:19489600-19493200	Weak transcription	Fetal Intestine Small	intestine
10	chr10:19490000-19492400	Weak transcription	Fetal Intestine Large	intestine
11	chr10:19492200-19501400	Strong transcription	Duodenum Mucosa	Duodenum

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