Variant report

Variant	nsv966994
Chromosome Location	chr3:17915628-17921392
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	ARID3A	chr3:17918969-17919090	K562	blood:	n/a	n/a
2	BHLHE40	chr3:17918916-17919202	K562	blood:	n/a	n/a
3	CEBPB	chr3:17916110-17916367	K562	blood:	n/a	chr3:17916286-17916295 chr3:17916343-17916355 chr3:17916285-17916296 chr3:17916284-17916295
4	CEBPB	chr3:17916173-17916714	K562	blood:	n/a	chr3:17916286-17916295 chr3:17916343-17916355 chr3:17916285-17916296 chr3:17916284-17916295
5	CEBPB	chr3:17916139-17916455	MCF-7	breast:	n/a	chr3:17916286-17916295 chr3:17916343-17916355 chr3:17916285-17916296 chr3:17916284-17916295
6	CEBPB	chr3:17916131-17916716	A549	lung:	n/a	chr3:17916286-17916295 chr3:17916343-17916355 chr3:17916285-17916296 chr3:17916284-17916295
7	CEBPB	chr3:17916130-17916682	Hela-S3	cervix:	n/a	chr3:17916286-17916295 chr3:17916343-17916355 chr3:17916285-17916296 chr3:17916284-17916295
8	CEBPB	chr3:17916129-17916727	HepG2	liver:	n/a	chr3:17916286-17916295 chr3:17916343-17916355 chr3:17916285-17916296 chr3:17916284-17916295
9	CEBPB	chr3:17916138-17916681	IMR90	lung:	n/a	chr3:17916286-17916295 chr3:17916343-17916355 chr3:17916285-17916296 chr3:17916284-17916295
10	CTCF	chr3:17918953-17919022	GM12892	blood:	n/a	n/a
11	CTCF	chr3:17918924-17919071	MCF-7	breast:	n/a	n/a
12	CTCF	chr3:17918923-17919064	MCF-7	breast:	n/a	n/a
13	CTCF	chr3:17918948-17919007	GM19239	blood:	n/a	n/a
14	CTCF	chr3:17918840-17918990	K562	blood:	n/a	n/a
15	CTCF	chr3:17918880-17919030	GM12869	blood:	n/a	n/a
16	CTCF	chr3:17918970-17919007	GM12891	blood:	n/a	n/a
17	CTCF	chr3:17918819-17919154	K562	blood:	n/a	n/a
18	CTCF	chr3:17918935-17919066	A549	lung:	n/a	n/a
19	CTCF	chr3:17918793-17919167	K562	blood:	n/a	n/a
20	CTCF	chr3:17918975-17918985	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr3:17918905-17919060	MCF-7	breast:	n/a	n/a
22	CTCF	chr3:17918957-17919007	GM19238	blood:	n/a	n/a
23	CTCF	chr3:17915979-17916015	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr3:17918872-17919141	K562	blood:	n/a	n/a
25	CTCF	chr3:17919020-17919170	A549	lung:	n/a	n/a
26	CTCF	chr3:17918920-17919070	K562	blood:	n/a	n/a
27	CTCF	chr3:17918944-17919024	GM19240	blood:	n/a	n/a
28	CTCF	chr3:17918904-17919057	MCF-7	breast:	n/a	n/a
29	CTCF	chr3:17918882-17919106	K562	blood:	n/a	n/a
30	CTCF	chr3:17918860-17919010	MCF-7	breast:	n/a	n/a
31	CTCF	chr3:17918868-17919182	K562	blood:	n/a	n/a
32	CTCF	chr3:17918892-17919083	MCF-7	breast:	n/a	n/a
33	CTCF	chr3:17918880-17919030	MCF-7	breast:	n/a	n/a
34	CTCF	chr3:17918906-17919016	HepG2	liver:	n/a	n/a
35	EP300	chr3:17919089-17919124	K562	blood:	n/a	n/a
36	FOS	chr3:17916150-17916350	MCF10A-Er-Src	breast:	n/a	chr3:17916235-17916244
37	FOS	chr3:17916234-17916359	MCF10A-Er-Src	breast:	n/a	chr3:17916235-17916244
38	FOS	chr3:17916159-17916374	MCF10A-Er-Src	breast:	n/a	chr3:17916235-17916244
39	GATA2	chr3:17916001-17916315	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr3:17918894-17919355	MCF-7	breast:	n/a	n/a
41	GATA3	chr3:17918959-17919300	T-47D	breast:	n/a	n/a
42	GATA3	chr3:17916109-17916183	SH-SY5Y	brain:	n/a	n/a
43	GATA3	chr3:17918896-17919523	MCF-7	breast:	n/a	n/a
44	JUN	chr3:17916563-17916603	HepG2	liver:	n/a	chr3:17916584-17916597
45	JUND	chr3:17918964-17919054	K562	blood:	n/a	n/a
46	MAFK	chr3:17917974-17918302	HepG2	liver:	n/a	n/a
47	MAFK	chr3:17917991-17918196	HepG2	liver:	n/a	n/a
48	MAX	chr3:17918898-17919075	K562	blood:	n/a	n/a
49	MAX	chr3:17918856-17919140	K562	blood:	n/a	n/a
50	MAZ	chr3:17918960-17919020	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:17914461..17916161-chr3:17921301..17923338,2	K562	blood:
2	chr3:17909966..17912516-chr3:17914801..17916339,2	K562	blood:
3	chr3:17914461..17916161-chr3:17921301..17923338,2	K562	blood:

Variant related genes	Relation type
PDCL3P3	TF binding region
ENSG00000213383	TF binding region

Extended variants
information (count: 213 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144651389	chr3:17915686-17915687	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs183924268	chr3:17915710-17915711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557555677	chr3:17915718-17915719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577072651	chr3:17915740-17915741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188470521	chr3:17915799-17915800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146672044	chr3:17915809-17915810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191968397	chr3:17915827-17915828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541881265	chr3:17915828-17915829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562143166	chr3:17915911-17915912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572333860	chr3:17915979-17915980	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs541555669	chr3:17915999-17916000	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs564525036	chr3:17916018-17916019	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184212954	chr3:17916054-17916055	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549965956	chr3:17916071-17916072	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs563595778	chr3:17916072-17916073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs188650361	chr3:17916119-17916120	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs13097638	chr3:17916131-17916132	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs528174730	chr3:17916217-17916218	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs11439490	chr3:17916218-17916219	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs397796409	chr3:17916227-17916228	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs397809973	chr3:17916228-17916229	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191615068	chr3:17916318-17916319	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs372469109	chr3:17916339-17916340	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183710870	chr3:17916343-17916344	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs546447924	chr3:17916373-17916374	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs534317606	chr3:17916398-17916399	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372239719	chr3:17916560-17916561	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559879482	chr3:17916570-17916571	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs570972079	chr3:17916571-17916572	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539662893	chr3:17916649-17916650	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs556311840	chr3:17916664-17916665	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs6784611	chr3:17916665-17916666	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs140215453	chr3:17916668-17916669	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542130710	chr3:17916670-17916671	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114578901	chr3:17916696-17916697	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs572406056	chr3:17916728-17916729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73817393	chr3:17916738-17916739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558297202	chr3:17916744-17916745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs578123034	chr3:17916745-17916746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543910531	chr3:17916754-17916755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112259578	chr3:17916788-17916789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563507719	chr3:17916817-17916818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529067372	chr3:17916818-17916819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542952842	chr3:17916895-17916896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs6803185	chr3:17916934-17916935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148364065	chr3:17916942-17916943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528019940	chr3:17916987-17916988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6803292	chr3:17917001-17917002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs368863821	chr3:17917021-17917022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115739778	chr3:17917147-17917148	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17904200-17936200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:17915800-17916200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr3:17916000-17917200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr3:17916200-17916600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr3:17916600-17917200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr3:17916800-17918000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:17919000-17919200	Enhancers	K562	blood

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