Variant report

Variant	nsv482246
Chromosome Location	chr5:99155999-99339164
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	chr5:99202345-99202916	GM12878	blood:	n/a	n/a
2	ATF2	chr5:99202398-99202877	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	chr5:99287782-99288036	A549	lung:	n/a	chr5:99287911-99287922
11	CEBPB	chr5:99287769-99288059	HepG2	liver:	n/a	chr5:99287911-99287922
12	CEBPB	chr5:99240558-99240601	K562	blood:	n/a	n/a
13	CEBPB	chr5:99280607-99280936	IMR90	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
14	CEBPB	chr5:99281714-99281914	HepG2	liver:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
15	CEBPB	chr5:99202310-99202946	GM12878	blood:	n/a	n/a
16	CEBPB	chr5:99280572-99280892	A549	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
17	CEBPB	chr5:99220441-99220630	A549	lung:	n/a	n/a
18	CEBPB	chr5:99275346-99275667	A549	lung:	n/a	chr5:99275488-99275499
19	CEBPB	chr5:99266376-99266641	HepG2	liver:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
20	CEBPB	chr5:99280601-99280858	HepG2	liver:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
21	CEBPB	chr5:99281660-99281902	A549	lung:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
22	CEBPB	chr5:99275330-99275682	HepG2	liver:	n/a	chr5:99275488-99275499
23	CEBPB	chr5:99266424-99266615	K562	blood:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
24	CEBPB	chr5:99275443-99275530	K562	blood:	n/a	chr5:99275488-99275499
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	chr5:99220411-99220575	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr5:99280745-99280940	H1-hESC	embryonic stem cell:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
29	CEBPB	chr5:99266393-99266617	A549	lung:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
30	CEBPB	chr5:99209117-99209497	HepG2	liver:	n/a	chr5:99209184-99209197
31	CEBPB	chr5:99235842-99236653	HCT-116	colon:	n/a	n/a
32	CEBPB	chr5:99287763-99288089	IMR90	lung:	n/a	chr5:99287911-99287922
33	CEBPZ	chr5:99201452-99201472	HepG2	liver:	n/a	n/a
34	CREB1	chr5:99202372-99202821	GM12878	blood:	n/a	n/a
35	CTCF	chr5:99247800-99247950	BE2_C	brain:	n/a	n/a
36	CTCF	chr5:99214040-99214190	RPTEC	kidney:	n/a	n/a
37	CTCF	chr5:99247780-99247930	HEEpiC	esophagus:	n/a	n/a
38	CTCF	chr5:99247740-99247890	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr5:99247720-99247870	HepG2	liver:	n/a	n/a
40	CTCF	chr5:99332067-99332135	Lung_OC	lung:	n/a	n/a
41	CTCF	chr5:99214060-99214134	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr5:99247750-99247906	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:99247721-99247816	LNCaP	prostate:	n/a	n/a
44	CTCF	chr5:99247740-99247890	GM12873	blood:	n/a	n/a
45	CTCF	chr5:99247820-99247825	LNCaP	prostate:	n/a	n/a
46	CTCF	chr5:99303360-99303510	HPF	lung:	n/a	n/a
47	CTCF	chr5:99213940-99214318	MCF-7	breast:	n/a	n/a
48	CTCF	chr5:99247720-99247870	WERI-Rb-1	eye:	n/a	n/a
49	CTCF	chr5:99247820-99247970	GM12872	blood:	n/a	n/a
50	CTCF	chr5:99214113-99214137	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:
2	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
3	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
4	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
5	chr5:99236316..99237878-chr5:99242234..99244440,2	MCF-7	breast:
6	chr5:99279070..99281321-chr9:113352239..113355129,2	MCF-7	breast:
7	chr5:99336948..99339437-chr5:99341088..99343626,2	K562	blood:
8	chr5:99272528..99274253-chr5:99280354..99282185,2	K562	blood:

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

Extended variants
information (count: 1290 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1290 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193252624	chr5:99156018-99156019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372538721	chr5:99156019-99156020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533714178	chr5:99156067-99156068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551810140	chr5:99156073-99156074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3021384	chr5:99156080-99156081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs140068222	chr5:99156093-99156094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558013143	chr5:99156096-99156097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573079179	chr5:99156180-99156181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548659170	chr5:99156205-99156206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540201190	chr5:99156267-99156268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567072070	chr5:99156287-99156288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562113220	chr5:99156312-99156313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76221027	chr5:99156329-99156330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2369754	chr5:99156362-99156363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368192217	chr5:99156390-99156391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544262557	chr5:99156422-99156423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149890133	chr5:99156448-99156449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112650937	chr5:99156455-99156456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556976309	chr5:99156511-99156512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2369752	chr5:99156539-99156540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs2369751	chr5:99156558-99156559	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146452049	chr5:99156602-99156603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574213631	chr5:99156619-99156620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17167277	chr5:99156706-99156707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs140917597	chr5:99156717-99156718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527983104	chr5:99156735-99156736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533365870	chr5:99156753-99156754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60389040	chr5:99156784-99156785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563867100	chr5:99156819-99156820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374824927	chr5:99156842-99156843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77769449	chr5:99156856-99156857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75434514	chr5:99156857-99156858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530424316	chr5:99156905-99156906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548600281	chr5:99157019-99157020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572733504	chr5:99157035-99157036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369256977	chr5:99157136-99157137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567008195	chr5:99157171-99157172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549414893	chr5:99157224-99157225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79196270	chr5:99157340-99157341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546397551	chr5:99157358-99157359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28650236	chr5:99157359-99157360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145085096	chr5:99157494-99157495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2123813	chr5:99157520-99157521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557209293	chr5:99157584-99157585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2123814	chr5:99157585-99157586	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs183080163	chr5:99157589-99157590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555830630	chr5:99157650-99157651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535121523	chr5:99157656-99157657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138975563	chr5:99157668-99157669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541491816	chr5:99157722-99157723	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:45 , 50 per page) page: 1

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

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