Variant report

Variant	nsv550018
Chromosome Location	chr10:16244094-16279015
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:16274419-16274579	HepG2	liver:	n/a	chr10:16274475-16274486
2	CEBPB	chr10:16274441-16274545	A549	lung:	n/a	chr10:16274475-16274486
3	CEBPB	chr10:16254419-16254431	A549	lung:	n/a	n/a
4	CTCF	chr10:16273720-16273870	GM12871	blood:	n/a	n/a
5	CTCF	chr10:16249540-16249690	Caco-2	colon:	n/a	n/a
6	CTCF	chr10:16245640-16245790	HCFaa	heart:	n/a	n/a
7	CTCF	chr10:16248960-16249015	GM10266	blood:	n/a	n/a
8	CTCF	chr10:16258575-16258666	GM10248	blood:	n/a	n/a
9	E2F4	chr10:16272498-16272524	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F6	chr10:16273706-16274023	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr10:16276859-16277410	SK-N-SH	brain:	n/a	n/a
12	GATA2	chr10:16274421-16274853	SH-SY5Y	brain:	n/a	n/a
13	GATA2	chr10:16276926-16277413	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr10:16276997-16277208	SH-SY5Y	brain:	n/a	n/a
15	GATA3	chr10:16274360-16274911	SH-SY5Y	brain:	n/a	n/a
16	JUN	chr10:16267349-16267640	H1-hESC	embryonic stem cell:	n/a	chr10:16267440-16267453
17	JUN	chr10:16278440-16278600	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUN	chr10:16267345-16267555	HepG2	liver:	n/a	chr10:16267440-16267453
19	JUND	chr10:16255849-16256085	HepG2	liver:	n/a	chr10:16256002-16256013
20	JUND	chr10:16267315-16267613	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr10:16267287-16267612	HepG2	liver:	n/a	n/a
22	KAP1	chr10:16264881-16265476	K562	blood:	n/a	n/a
23	KAP1	chr10:16264898-16265398	HEK293	kidney:	n/a	n/a
24	MAFK	chr10:16276177-16276191	HepG2	liver:	n/a	n/a
25	MXI1	chr10:16262823-16262934	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr10:16263780-16263868	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:16276447-16276559	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr10:16249933-16250085	GM12878	blood:	n/a	n/a
29	POLR2A	chr10:16256418-16256454	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr10:16267642-16267798	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr10:16277229-16277338	A549	lung:	n/a	n/a
32	POLR2A	chr10:16262284-16262399	MCF10A-Er-Src	breast:	n/a	n/a
33	RCOR1	chr10:16269820-16269950	K562	blood:	n/a	n/a
34	SETDB1	chr10:16247998-16248341	U2OS	brain:	n/a	n/a
35	SETDB1	chr10:16264871-16265492	U2OS	brain:	n/a	n/a
36	STAT3	chr10:16275642-16275758	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr10:16244592-16244792	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr10:16277635-16277752	MCF10A-Er-Src	breast:	n/a	n/a
39	TRIM28	chr10:16264848-16265176	K562	blood:	n/a	n/a
40	ZNF143	chr10:16264986-16265219	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:16272567..16275355-chr10:16277483..16279973,2	K562	blood:
2	chr10:16275723..16278095-chr10:16278831..16281522,2	K562	blood:
3	chr10:16275723..16278095-chr10:16278831..16281522,2	K562	blood:
4	chr10:16272567..16275355-chr10:16277483..16279973,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-1075P	TF binding region

Extended variants
information (count: 752 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:752 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549217270	chr10:16247209-16247210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556545117	chr10:16247231-16247232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113454087	chr10:16247253-16247254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184269399	chr10:16247300-16247301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12778353	chr10:16247310-16247311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553230584	chr10:16247314-16247315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571753415	chr10:16247316-16247317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539099540	chr10:16247353-16247354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574879457	chr10:16247377-16247378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1578265	chr10:16247399-16247400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs61065714	chr10:16249989-16249990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs537945293	chr10:16250037-16250038	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs552029482	chr10:16250062-16250063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570435075	chr10:16250076-16250077	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370791833	chr10:16257408-16257409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112639595	chr10:16257417-16257418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572950453	chr10:16257427-16257428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs147902079	chr10:16257451-16257452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564947534	chr10:16257460-16257461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141586310	chr10:16257466-16257467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71493247	chr10:16257479-16257480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs562499149	chr10:16257532-16257533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530073251	chr10:16257545-16257546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1340139	chr10:16257548-16257549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs147032008	chr10:16257591-16257592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1340138	chr10:16257615-16257616	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs570982419	chr10:16257622-16257623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148067797	chr10:16257644-16257645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117347518	chr10:16257648-16257649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575303102	chr10:16257686-16257687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs56380644	chr10:16257694-16257695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536301090	chr10:16257715-16257716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374251746	chr10:16257722-16257723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554884383	chr10:16257739-16257740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1340137	chr10:16257742-16257743	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs540177783	chr10:16257750-16257751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187158656	chr10:16257763-16257764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565044281	chr10:16257765-16257766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190989182	chr10:16257769-16257770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576973747	chr10:16257794-16257795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536509107	chr10:16257815-16257816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10904688	chr10:16257823-16257824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs374399442	chr10:16257827-16257828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530012370	chr10:16257854-16257855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112530964	chr10:16257872-16257873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548210754	chr10:16257884-16257885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10904689	chr10:16257952-16257953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs1934638	chr10:16257990-16257991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184938068	chr10:16258069-16258070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150144832	chr10:16258070-16258071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	22032731	CNVD
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
small cell lung cancer	20016488	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
Renal cell carcinoma	18765545	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
DiGeorge-Velo cardiofacial	22470819	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
Adrenocortical carcinoma	18281524	CNVD
Digeorge syndrome	17576883	CNVD
Lung cancer	16773561	CNVD
Velocardiofacial syndrome	17576883	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Thymic lymphomas tumor	22700994	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16247200-16247400	Weak transcription	Aorta	Aorta
2	chr10:16257400-16257800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr10:16257800-16262200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr10:16264200-16264600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:16264400-16264600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr10:16264600-16266600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr10:16267000-16267200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr10:16270000-16271600	Weak transcription	Fetal Brain Male	brain
9	chr10:16271000-16271400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr10:16271000-16271400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:16271400-16273600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr10:16271600-16271800	Enhancers	Fetal Brain Male	brain
13	chr10:16271800-16272200	Weak transcription	Fetal Brain Male	brain
14	chr10:16272200-16274800	Enhancers	Fetal Brain Male	brain
15	chr10:16273200-16273400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:16273600-16273800	Enhancers	Fetal Brain Female	brain
17	chr10:16273600-16274000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr10:16273800-16274200	Flanking Active TSS	Fetal Brain Female	brain
19	chr10:16274200-16274400	Enhancers	Fetal Brain Female	brain
20	chr10:16274800-16276800	Weak transcription	Fetal Brain Male	brain
21	chr10:16276800-16277400	Enhancers	Fetal Brain Male	brain

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