Variant report

Variant	nsv882437
Chromosome Location	chr5:99262554-99291871
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	CEBPB	chr5:99275330-99275682	HepG2	liver:	n/a	chr5:99275488-99275499
2	CEBPB	chr5:99266376-99266641	HepG2	liver:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
3	CEBPB	chr5:99281714-99281914	HepG2	liver:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
4	CEBPB	chr5:99287782-99288036	A549	lung:	n/a	chr5:99287911-99287922
5	CEBPB	chr5:99287769-99288059	HepG2	liver:	n/a	chr5:99287911-99287922
6	CEBPB	chr5:99266393-99266617	A549	lung:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
7	CEBPB	chr5:99280745-99280940	H1-hESC	embryonic stem cell:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
8	CEBPB	chr5:99275346-99275667	A549	lung:	n/a	chr5:99275488-99275499
9	CEBPB	chr5:99275443-99275530	K562	blood:	n/a	chr5:99275488-99275499
10	CEBPB	chr5:99281660-99281902	A549	lung:	n/a	chr5:99281715-99281726 chr5:99281776-99281787
11	CEBPB	chr5:99280607-99280936	IMR90	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
12	CEBPB	chr5:99266424-99266615	K562	blood:	n/a	chr5:99266520-99266531 chr5:99266520-99266533 chr5:99266520-99266533
13	CEBPB	chr5:99280572-99280892	A549	lung:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
14	CEBPB	chr5:99275354-99275668	IMR90	lung:	n/a	chr5:99275488-99275499
15	CEBPB	chr5:99287763-99288089	IMR90	lung:	n/a	chr5:99287911-99287922
16	CEBPB	chr5:99280601-99280858	HepG2	liver:	n/a	chr5:99280757-99280766 chr5:99280756-99280767 chr5:99280757-99280766
17	CTCF	chr5:99287120-99287270	GM12864	blood:	n/a	n/a
18	E2F4	chr5:99269153-99269495	MCF10A-Er-Src	breast:	n/a	chr5:99269164-99269173
19	EBF1	chr5:99272555-99272980	GM12878	blood:	n/a	chr5:99272773-99272784
20	EBF1	chr5:99270596-99270892	GM12878	blood:	n/a	chr5:99270748-99270759
21	FOS	chr5:99272325-99272987	HUVEC	blood vessel:	n/a	chr5:99272756-99272767
22	IRF1	chr5:99277028-99277044	K562	blood:	n/a	n/a
23	JUN	chr5:99272606-99272642	H1-hESC	embryonic stem cell:	n/a	n/a
24	JUN	chr5:99263019-99263020	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUN	chr5:99281721-99281849	HepG2	liver:	n/a	chr5:99281773-99281786
26	JUN	chr5:99282401-99282538	HepG2	liver:	n/a	n/a
27	KAP1	chr5:99269643-99269913	K562	blood:	n/a	n/a
28	MAFF	chr5:99263366-99263652	HepG2	liver:	n/a	chr5:99263484-99263502
29	MAFK	chr5:99263391-99263597	K562	blood:	n/a	n/a
30	MAFK	chr5:99263349-99263648	HepG2	liver:	n/a	n/a
31	MAZ	chr5:99272816-99272825	HepG2	liver:	n/a	n/a
32	MYC	chr5:99291800-99291810	MCF-7	breast:	n/a	n/a
33	MYC	chr5:99277073-99277212	H1-hESC	embryonic stem cell:	n/a	n/a
34	MYC	chr5:99285729-99285816	MCF-7	breast:	n/a	n/a
35	NFYB	chr5:99288286-99288478	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr5:99265751-99265758	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:99265681-99265728	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:99290911-99290941	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:99291787-99291814	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:99290865-99290883	MCF-7	breast:	n/a	n/a
41	POLR2A	chr5:99265694-99265872	MCF-7	breast:	n/a	n/a
42	POLR2A	chr5:99273725-99273736	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr5:99286967-99287178	MCF-7	breast:	n/a	n/a
44	POLR2A	chr5:99278837-99279003	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr5:99265833-99265845	MCF-7	breast:	n/a	n/a
46	POLR2A	chr5:99265778-99265791	MCF-7	breast:	n/a	n/a
47	POLR2A	chr5:99265436-99265674	MCF-7	breast:	n/a	n/a
48	POLR2A	chr5:99273196-99273423	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr5:99264360-99264364	MCF-7	breast:	n/a	n/a
50	POLR2A	chr5:99265504-99265680	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:99281632..99283428-chr5:99288358..99290129,2	MCF-7	breast:
2	chr5:99279070..99281321-chr9:113352239..113355129,2	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:

Variant related genes	Relation type
ENSG00000250391	TF binding region

Extended variants
information (count: 341 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533891171	chr5:99264217-99264218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1161327	chr5:99264322-99264323	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192983994	chr5:99264335-99264336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183662818	chr5:99264338-99264339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143078678	chr5:99264352-99264353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574647403	chr5:99264371-99264372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536606321	chr5:99264380-99264381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554557938	chr5:99264398-99264399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572971416	chr5:99264448-99264449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1161326	chr5:99264455-99264456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553416692	chr5:99264477-99264478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188191678	chr5:99264509-99264510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145182296	chr5:99264513-99264514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544578089	chr5:99264514-99264515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375703810	chr5:99264555-99264556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374779605	chr5:99264557-99264558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577270093	chr5:99264593-99264594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563152909	chr5:99264603-99264604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530338635	chr5:99264614-99264615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369190982	chr5:99264655-99264656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202218218	chr5:99264656-99264657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138802304	chr5:99264666-99264667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560213612	chr5:99264706-99264707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192553479	chr5:99264725-99264726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57841344	chr5:99264761-99264762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112072941	chr5:99264818-99264819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72767562	chr5:99264853-99264854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570656270	chr5:99264900-99264901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574777052	chr5:99264922-99264923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77553060	chr5:99264940-99264941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184791903	chr5:99264965-99264966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568309020	chr5:99264984-99264985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370270806	chr5:99264999-99265000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554519207	chr5:99265012-99265013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141994371	chr5:99265021-99265022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534021727	chr5:99265027-99265028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558675735	chr5:99265083-99265084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1184440	chr5:99265096-99265097	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188390922	chr5:99265217-99265218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191362995	chr5:99265275-99265276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71638974	chr5:99265289-99265290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575049830	chr5:99265324-99265325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184936768	chr5:99265399-99265400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2927423	chr5:99265408-99265409	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs2924606	chr5:99265461-99265462	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs552205297	chr5:99265480-99265481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs564166502	chr5:99265510-99265511	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549514375	chr5:99265513-99265514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs148534316	chr5:99265515-99265516	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs549918295	chr5:99265543-99265544	Weak transcription ZNF genes & repeats	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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99264200-99264400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:99264400-99265600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:99265400-99266000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:99265600-99265800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:99281400-99282000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:99286000-99286200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:99286000-99287200	Enhancers	Spleen	Spleen
8	chr5:99286200-99293400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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