Variant report

Variant	nsv882499
Chromosome Location	chr5:101125653-101191593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:101165091-101165242	K562	blood:	n/a	n/a
2	CEBPB	chr5:101142779-101143049	HepG2	liver:	n/a	chr5:101142918-101142929
3	CEBPB	chr5:101142819-101143071	A549	lung:	n/a	chr5:101142918-101142929
4	CEBPB	chr5:101165030-101165279	A549	lung:	n/a	n/a
5	CEBPB	chr5:101127405-101127502	HepG2	liver:	n/a	chr5:101127458-101127469
6	CTCF	chr5:101152280-101152430	GM12866	blood:	n/a	n/a
7	CTCF	chr5:101136171-101136274	GM20000	blood:	n/a	n/a
8	CTCF	chr5:101128950-101128982	ProgFib	skin:	n/a	n/a
9	E2F4	chr5:101139776-101140191	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr5:101131625-101131650	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr5:101132338-101132478	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA3	chr5:101152103-101152277	SH-SY5Y	brain:	n/a	n/a
13	JUN	chr5:101163464-101163625	K562	blood:	n/a	n/a
14	JUND	chr5:101147619-101147681	H1-hESC	embryonic stem cell:	n/a	n/a
15	KAP1	chr5:101161540-101161848	K562	blood:	n/a	n/a
16	KAP1	chr5:101179612-101179812	K562	blood:	n/a	n/a
17	KAP1	chr5:101165450-101166023	K562	blood:	n/a	n/a
18	MAFK	chr5:101149556-101149682	HepG2	liver:	n/a	n/a
19	MYC	chr5:101129165-101129200	GM12878	blood:	n/a	n/a
20	MYC	chr5:101143307-101143379	MCF-7	breast:	n/a	n/a
21	MYC	chr5:101143300-101143368	MCF-7	breast:	n/a	n/a
22	MYC	chr5:101143258-101143372	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:101143173-101143478	MCF-7	breast:	n/a	n/a
24	POLR2A	chr5:101137784-101138125	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:101166193-101166389	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr5:101143348-101143451	Gliobla	brain:	n/a	n/a
27	POLR2A	chr5:101149976-101150101	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr5:101163935-101164110	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr5:101142181-101142201	MCF-7	breast:	n/a	n/a
30	POLR2A	chr5:101181805-101181989	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr5:101179960-101180035	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr5:101142496-101142499	MCF-7	breast:	n/a	n/a
33	POLR2A	chr5:101142510-101142518	MCF-7	breast:	n/a	n/a
34	POLR2A	chr5:101135124-101135214	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:101142371-101142464	MCF-7	breast:	n/a	n/a
36	POLR2A	chr5:101143307-101143411	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:101142436-101142480	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:101142480-101142508	A549	lung:	n/a	n/a
39	POLR2A	chr5:101142516-101142553	A549	lung:	n/a	n/a
40	POLR2A	chr5:101155133-101155220	GM12878	blood:	n/a	n/a
41	POLR2A	chr5:101126975-101127078	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr5:101162226-101162363	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr5:101143481-101143489	MCF-7	breast:	n/a	n/a
44	POLR2A	chr5:101143357-101143437	A549	lung:	n/a	n/a
45	POLR2A	chr5:101143441-101143453	A549	lung:	n/a	n/a
46	POLR2A	chr5:101168421-101168463	MCF10A-Er-Src	breast:	n/a	n/a
47	RAD21	chr5:101178459-101178776	H1-hESC	embryonic stem cell:	n/a	n/a
48	RFX5	chr5:101177287-101177344	K562	blood:	n/a	n/a
49	RFX5	chr5:101157827-101157946	K562	blood:	n/a	n/a
50	STAT3	chr5:101157662-101157934	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:101137073..101139756-chr5:101141662..101143533,2	MCF-7	breast:
2	chr10:68291165..68291817-chr5:101132057..101132805,2	MCF-7	breast:
3	chr5:101137073..101139756-chr5:101141662..101143533,2	MCF-7	breast:

No data

Variant related genes	Relation type
OR7H2P	TF binding region

Extended variants
information (count: 181 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138775152	chr5:101130933-101130934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73176581	chr5:101130937-101130938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571860700	chr5:101130972-101130973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116582921	chr5:101130973-101130974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557207605	chr5:101131056-101131057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60489585	chr5:101131092-101131093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs71500619	chr5:101131118-101131119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs529312428	chr5:101131119-101131120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10064408	chr5:101131128-101131129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573244342	chr5:101131148-101131149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540064541	chr5:101131153-101131154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188192326	chr5:101131158-101131159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532326987	chr5:101131164-101131165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76124064	chr5:101131169-101131170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192757418	chr5:101131219-101131220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4703190	chr5:101131228-101131229	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373184595	chr5:101131247-101131248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386404572	chr5:101131248-101131249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs57158519	chr5:101131258-101131259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79106141	chr5:101131259-101131260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376961597	chr5:101131288-101131289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs59845776	chr5:101131347-101131348	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs145262821	chr5:101131376-101131377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527344047	chr5:101131381-101131382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546896411	chr5:101131398-101131399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs354673	chr5:101131401-101131402	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538838940	chr5:101131464-101131465	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557274850	chr5:101131574-101131575	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs137861002	chr5:101131584-101131585	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4703191	chr5:101131600-101131601	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554503028	chr5:101131609-101131610	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573272068	chr5:101131686-101131687	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558422711	chr5:101131687-101131688	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540695283	chr5:101131703-101131704	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111935732	chr5:101131726-101131727	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188431657	chr5:101131728-101131729	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554942291	chr5:101131760-101131761	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142461097	chr5:101131865-101131866	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs354674	chr5:101131886-101131887	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs574744175	chr5:101131909-101131910	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73176586	chr5:101131917-101131918	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs77701129	chr5:101131945-101131946	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191449601	chr5:101131956-101131957	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573771525	chr5:101131957-101131958	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552280798	chr5:101131963-101131964	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564019566	chr5:101131968-101131969	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532789103	chr5:101131976-101131977	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7701413	chr5:101132030-101132031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200844504	chr5:101132048-101132049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569221517	chr5:101132084-101132085	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:101130800-101131400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:101131400-101132000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:101131400-101132200	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr5:101131400-101132800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr5:101132000-101132400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:101132200-101132600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr5:101132600-101133000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:101142400-101142600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:101172600-101174600	Enhancers	Fetal Heart	heart
10	chr5:101173400-101174600	Enhancers	Fetal Brain Male	brain
11	chr5:101173600-101174800	Enhancers	Fetal Lung	lung
12	chr5:101174000-101174600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:101174200-101174600	Enhancers	Aorta	Aorta
14	chr5:101182200-101182600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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