Variant report

Variant	nsv599152
Chromosome Location	chr5:99234733-99303002
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	BACH1	chr5:99235472-99235650	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr5:99235928-99236722	HCT-116	colon:	n/a	n/a
3	CEBPB	chr5:99275443-99275530	K562	blood:	n/a	chr5:99275488-99275499
4	CEBPB	chr5:99287769-99288059	HepG2	liver:	n/a	chr5:99287911-99287922
5	CEBPB	chr5:99280572-99280892	A549	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
6	CEBPB	chr5:99280745-99280940	H1-hESC	embryonic stem cell:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
7	CEBPB	chr5:99287782-99288036	A549	lung:	n/a	chr5:99287911-99287922
8	CEBPB	chr5:99266393-99266617	A549	lung:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
9	CEBPB	chr5:99266376-99266641	HepG2	liver:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
10	CEBPB	chr5:99280607-99280936	IMR90	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
11	CEBPB	chr5:99275354-99275668	IMR90	lung:	n/a	chr5:99275488-99275499
12	CEBPB	chr5:99275330-99275682	HepG2	liver:	n/a	chr5:99275488-99275499
13	CEBPB	chr5:99240558-99240601	K562	blood:	n/a	n/a
14	CEBPB	chr5:99287763-99288089	IMR90	lung:	n/a	chr5:99287911-99287922
15	CEBPB	chr5:99280601-99280858	HepG2	liver:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
16	CEBPB	chr5:99266424-99266615	K562	blood:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
17	CEBPB	chr5:99281660-99281902	A549	lung:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
18	CEBPB	chr5:99275346-99275667	A549	lung:	n/a	chr5:99275488-99275499
19	CEBPB	chr5:99281714-99281914	HepG2	liver:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
20	CEBPB	chr5:99235842-99236653	HCT-116	colon:	n/a	n/a
21	CTCF	chr5:99247720-99247870	GM12872	blood:	n/a	n/a
22	CTCF	chr5:99247860-99248010	GM06990	blood:	n/a	n/a
23	CTCF	chr5:99247748-99247867	MCF-7	breast:	n/a	n/a
24	CTCF	chr5:99287120-99287270	GM12864	blood:	n/a	n/a
25	CTCF	chr5:99247740-99247890	HCT-116	colon:	n/a	n/a
26	CTCF	chr5:99247740-99247890	HRE	kidney:	n/a	n/a
27	CTCF	chr5:99247760-99247910	RPTEC	kidney:	n/a	n/a
28	CTCF	chr5:99247720-99247870	HepG2	liver:	n/a	n/a
29	CTCF	chr5:99247740-99247890	GM12873	blood:	n/a	n/a
30	CTCF	chr5:99247806-99247866	GM12878	blood:	n/a	n/a
31	CTCF	chr5:99247740-99247890	HRPEpiC	eye:	n/a	n/a
32	CTCF	chr5:99247609-99248048	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:99247750-99247906	MCF-7	breast:	n/a	n/a
34	CTCF	chr5:99247800-99247950	A549	lung:	n/a	n/a
35	CTCF	chr5:99247700-99247850	GM12864	blood:	n/a	n/a
36	CTCF	chr5:99247780-99247930	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:99247720-99247870	HEK293	kidney:	n/a	n/a
38	CTCF	chr5:99247721-99247816	LNCaP	prostate:	n/a	n/a
39	CTCF	chr5:99247760-99247910	GM12875	blood:	n/a	n/a
40	CTCF	chr5:99247840-99247990	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr5:99247640-99247790	BE2_C	brain:	n/a	n/a
42	CTCF	chr5:99243793-99243862	GM10248	blood:	n/a	n/a
43	CTCF	chr5:99247780-99247930	GM12866	blood:	n/a	n/a
44	CTCF	chr5:99247680-99247830	RPTEC	kidney:	n/a	n/a
45	CTCF	chr5:99247820-99247970	GM12872	blood:	n/a	n/a
46	CTCF	chr5:99247820-99247825	LNCaP	prostate:	n/a	n/a
47	CTCF	chr5:99247740-99247890	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr5:99247691-99247992	GM12878	blood:	n/a	n/a
49	CTCF	chr5:99247720-99247870	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr5:99247800-99247950	BE2_C	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99279070..99281321-chr9:113352239..113355129,2	MCF-7	breast:
2	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
3	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
4	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
5	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
6	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
7	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250391	TF binding region

Extended variants
information (count: 696 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386690455	chr5:99235401-99235402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552446954	chr5:99235408-99235409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564364080	chr5:99235430-99235431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141818412	chr5:99235435-99235436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191530410	chr5:99235490-99235491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550103691	chr5:99235512-99235513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1477652	chr5:99235527-99235528	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150193718	chr5:99235529-99235530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188486254	chr5:99235536-99235537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566984823	chr5:99235548-99235549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534119532	chr5:99235591-99235592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138778379	chr5:99235615-99235616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13356795	chr5:99235642-99235643	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538119537	chr5:99235644-99235645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556454263	chr5:99235659-99235660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574334788	chr5:99235751-99235752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571965219	chr5:99235763-99235764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539379226	chr5:99235764-99235765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369893132	chr5:99235765-99235766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372595478	chr5:99235770-99235771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572781742	chr5:99235781-99235782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541837318	chr5:99235813-99235814	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559988257	chr5:99235877-99235878	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs17167386	chr5:99235896-99235897	Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533808741	chr5:99235924-99235925	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564229053	chr5:99236028-99236029	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs572444917	chr5:99236035-99236036	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201843514	chr5:99236079-99236080	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs36049737	chr5:99236081-99236082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs61076029	chr5:99236099-99236100	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116095454	chr5:99236145-99236146	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562052192	chr5:99236154-99236155	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs2602989	chr5:99236162-99236163	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548613220	chr5:99236232-99236233	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574057538	chr5:99236300-99236301	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372520979	chr5:99236319-99236320	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566759279	chr5:99236321-99236322	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534248471	chr5:99236355-99236356	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552273842	chr5:99236412-99236413	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192284630	chr5:99236419-99236420	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149381712	chr5:99236448-99236449	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556416700	chr5:99236453-99236454	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575124308	chr5:99236512-99236513	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150286284	chr5:99236542-99236543	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535095072	chr5:99236568-99236569	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75063866	chr5:99236602-99236603	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185296132	chr5:99236611-99236612	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147492483	chr5:99236614-99236615	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140483458	chr5:99236644-99236645	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577507075	chr5:99236645-99236646	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99235400-99235800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr5:99235400-99236000	Enhancers	HUVEC	blood vessel
3	chr5:99235400-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:99235400-99236800	Enhancers	Fetal Kidney	kidney
5	chr5:99235400-99236800	Enhancers	NHEK	skin
6	chr5:99235400-99237000	Enhancers	Hela-S3	cervix
7	chr5:99235600-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:99235600-99237000	Enhancers	NH-A	brain
9	chr5:99235800-99236000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr5:99236000-99236200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr5:99236000-99236400	Flanking Active TSS	HUVEC	blood vessel
12	chr5:99236200-99236800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr5:99236400-99237200	Enhancers	HUVEC	blood vessel
14	chr5:99236800-99237600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:99237000-99237400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:99241400-99242600	Enhancers	Fetal Lung	lung
17	chr5:99243600-99244400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:99247600-99249000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr5:99248600-99250400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:99264200-99264400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:99264400-99265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:99265400-99266000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:99265600-99265800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:99281400-99282000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:99286000-99286200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:99286000-99287200	Enhancers	Spleen	Spleen
27	chr5:99286200-99293400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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