Variant report

Variant	nsv599147
Chromosome Location	chr5:99134560-99332696
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	ATF2	chr5:99202398-99202877	GM12878	blood:	n/a	n/a
2	ATF2	chr5:99202345-99202916	GM12878	blood:	n/a	n/a
3	BACH1	chr5:99235472-99235650	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr5:99202470-99202751	GM12878	blood:	n/a	n/a
5	BATF	chr5:99202464-99202849	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:99202457-99202760	GM12878	blood:	n/a	n/a
7	BCL3	chr5:99202446-99202818	GM12878	blood:	n/a	n/a
8	BHLHE40	chr5:99202443-99202726	GM12878	blood:	n/a	n/a
9	CBX3	chr5:99235928-99236722	HCT-116	colon:	n/a	n/a
10	CEBPB	chr5:99275330-99275682	HepG2	liver:	n/a	chr5:99275488-99275499
11	CEBPB	chr5:99144679-99144917	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr5:99280601-99280858	HepG2	liver:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
13	CEBPB	chr5:99287763-99288089	IMR90	lung:	n/a	chr5:99287911-99287922
14	CEBPB	chr5:99266424-99266615	K562	blood:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
15	CEBPB	chr5:99281714-99281914	HepG2	liver:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
16	CEBPB	chr5:99287769-99288059	HepG2	liver:	n/a	chr5:99287911-99287922
17	CEBPB	chr5:99209117-99209497	HepG2	liver:	n/a	chr5:99209184-99209197
18	CEBPB	chr5:99202310-99202946	GM12878	blood:	n/a	n/a
19	CEBPB	chr5:99144581-99144899	A549	lung:	n/a	n/a
20	CEBPB	chr5:99287782-99288036	A549	lung:	n/a	chr5:99287911-99287922
21	CEBPB	chr5:99280745-99280940	H1-hESC	embryonic stem cell:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
22	CEBPB	chr5:99275346-99275667	A549	lung:	n/a	chr5:99275488-99275499
23	CEBPB	chr5:99281660-99281902	A549	lung:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
24	CEBPB	chr5:99280572-99280892	A549	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
25	CEBPB	chr5:99210500-99210820	HepG2	liver:	n/a	chr5:99210643-99210652 chr5:99210641-99210652 chr5:99210642-99210653 chr5:99210641-99210654
26	CEBPB	chr5:99275354-99275668	IMR90	lung:	n/a	chr5:99275488-99275499
27	CEBPB	chr5:99235842-99236653	HCT-116	colon:	n/a	n/a
28	CEBPB	chr5:99280607-99280936	IMR90	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
29	CEBPB	chr5:99275443-99275530	K562	blood:	n/a	chr5:99275488-99275499
30	CEBPB	chr5:99220411-99220575	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr5:99144593-99144845	HepG2	liver:	n/a	n/a
32	CEBPB	chr5:99266393-99266617	A549	lung:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
33	CEBPB	chr5:99220441-99220630	A549	lung:	n/a	n/a
34	CEBPB	chr5:99240558-99240601	K562	blood:	n/a	n/a
35	CEBPB	chr5:99266376-99266641	HepG2	liver:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
36	CEBPZ	chr5:99201452-99201472	HepG2	liver:	n/a	n/a
37	CREB1	chr5:99202372-99202821	GM12878	blood:	n/a	n/a
38	CTCF	chr5:99247780-99247930	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:99247721-99247816	LNCaP	prostate:	n/a	n/a
40	CTCF	chr5:99247609-99248048	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:99247720-99247870	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr5:99247806-99247866	GM12878	blood:	n/a	n/a
43	CTCF	chr5:99214060-99214134	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr5:99247840-99247990	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr5:99247740-99247890	HRE	kidney:	n/a	n/a
46	CTCF	chr5:99214120-99214270	RPTEC	kidney:	n/a	n/a
47	CTCF	chr5:99247640-99247790	BE2_C	brain:	n/a	n/a
48	CTCF	chr5:99214113-99214137	GM12878	blood:	n/a	n/a
49	CTCF	chr5:99247740-99247890	MCF-7	breast:	n/a	n/a
50	CTCF	chr5:99247740-99247890	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
2	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
3	chr5:99279070..99281321-chr9:113352239..113355129,2	MCF-7	breast:
4	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
5	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
6	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
7	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
8	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
9	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:

Variant related genes	Relation type
EEF1A1P20	TF binding region
ENSG00000250391	TF binding region

Extended variants
information (count: 1433 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1433 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6880594	chr5:99150044-99150045	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72783396	chr5:99150057-99150058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188486072	chr5:99150096-99150097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573729326	chr5:99150141-99150142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540805754	chr5:99150152-99150153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6879586	chr5:99150166-99150167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552783405	chr5:99150213-99150214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577433323	chr5:99150244-99150245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544876178	chr5:99150309-99150310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181683340	chr5:99150332-99150333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6861503	chr5:99150377-99150378	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6861506	chr5:99150381-99150382	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562038639	chr5:99150395-99150396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564426089	chr5:99153621-99153622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59967392	chr5:99153625-99153626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397971532	chr5:99153637-99153638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11951220	chr5:99153644-99153645	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544183029	chr5:99153688-99153689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116056642	chr5:99153695-99153696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546744749	chr5:99153710-99153711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568563981	chr5:99153711-99153712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574509673	chr5:99153718-99153719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535605040	chr5:99153728-99153729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9686224	chr5:99153772-99153773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188968034	chr5:99153778-99153779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34049421	chr5:99153798-99153799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs527475004	chr5:99153803-99153804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539695526	chr5:99153878-99153879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12653913	chr5:99153879-99153880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs192463201	chr5:99153884-99153885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531541935	chr5:99153889-99153890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34294864	chr5:99153897-99153898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569128499	chr5:99153915-99153916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549254356	chr5:99153953-99153954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10051400	chr5:99153985-99153986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs62375200	chr5:99153992-99153993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183594915	chr5:99154012-99154013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574458313	chr5:99154074-99154075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534107215	chr5:99154080-99154081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558921729	chr5:99154085-99154086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541599845	chr5:99154146-99154147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571042566	chr5:99154165-99154166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538131480	chr5:99154242-99154243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149571538	chr5:99154243-99154244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142641842	chr5:99154282-99154283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199677451	chr5:99154296-99154297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574446487	chr5:99154299-99154300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541889132	chr5:99154354-99154355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2924616	chr5:99154355-99154356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144274975	chr5:99154357-99154358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99150000-99150400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr5:99153600-99159400	Weak transcription	Pancreas	Pancrea
3	chr5:99159400-99159600	ZNF genes & repeats	Pancreas	Pancrea
4	chr5:99161000-99161400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:99161400-99161800	Enhancers	HUVEC	blood vessel
6	chr5:99173400-99173800	Enhancers	Fetal Brain Male	brain
7	chr5:99178600-99178800	Enhancers	Pancreas	Pancrea
8	chr5:99178800-99179000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:99179000-99179200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:99179200-99181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:99191600-99191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr5:99191600-99192000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr5:99191600-99192200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr5:99235400-99235800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:99235400-99236000	Enhancers	HUVEC	blood vessel
16	chr5:99235400-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:99235400-99236800	Enhancers	Fetal Kidney	kidney
18	chr5:99235400-99236800	Enhancers	NHEK	skin
19	chr5:99235400-99237000	Enhancers	Hela-S3	cervix
20	chr5:99235600-99236800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:99235600-99237000	Enhancers	NH-A	brain
22	chr5:99235800-99236000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr5:99236000-99236200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:99236000-99236400	Flanking Active TSS	HUVEC	blood vessel
25	chr5:99236200-99236800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr5:99236400-99237200	Enhancers	HUVEC	blood vessel
27	chr5:99236800-99237600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:99237000-99237400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:99241400-99242600	Enhancers	Fetal Lung	lung
30	chr5:99243600-99244400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:99247600-99249000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:99248600-99250400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr5:99264200-99264400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:99264400-99265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:99265400-99266000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:99265600-99265800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:99281400-99282000	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:99286000-99286200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:99286000-99287200	Enhancers	Spleen	Spleen
40	chr5:99286200-99293400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr5:99303400-99304000	Enhancers	HUVEC	blood vessel
42	chr5:99305800-99309200	Weak transcription	Fetal Lung	lung
43	chr5:99309200-99309400	Enhancers	Fetal Lung	lung
44	chr5:99311000-99311400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:99311400-99312600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:99312600-99313000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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