Variant report

Variant	nsv4926
Chromosome Location	chr5:96989823-97035011
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	chr5:97032370-97032668	HepG2	liver:	n/a	chr5:97032528-97032539
2	CTCF	chr5:97013600-97013750	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr5:97017686-97017758	LNCaP	prostate:	n/a	n/a
4	E2F4	chr5:97027470-97027670	MCF10A-Er-Src	breast:	n/a	n/a
5	E2F4	chr5:97008483-97008682	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr5:96993834-96994560	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr5:96993028-96993353	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr5:97002952-97003246	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr5:96993826-96994282	SK-N-SH	brain:	n/a	n/a
10	EP300	chr5:96994241-96994638	SK-N-SH_RA	brain:	n/a	n/a
11	EP300	chr5:97002944-97003225	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr5:96993026-96993398	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr5:96993832-96994203	SK-N-SH_RA	brain:	n/a	n/a
14	FOS	chr5:96993701-96994566	HUVEC	blood vessel:	n/a	chr5:96993994-96994005 chr5:96993997-96994008 chr5:96993994-96994006 chr5:96993996-96994004 chr5:96994424-96994435
15	FOS	chr5:97002584-97002793	HUVEC	blood vessel:	n/a	chr5:97002676-97002688 chr5:97002679-97002690 chr5:97002677-97002687 chr5:97002678-97002686 chr5:97002676-97002687 chr5:97002678-97002685
16	FOS	chr5:96992928-96993438	HUVEC	blood vessel:	n/a	n/a
17	FOS	chr5:97006205-97006568	HUVEC	blood vessel:	n/a	chr5:97006387-97006398
18	FOS	chr5:96993975-96994175	MCF10A-Er-Src	breast:	n/a	chr5:96993994-96994005 chr5:96993997-96994008 chr5:96993994-96994006 chr5:96993996-96994004
19	FOS	chr5:96993870-96994070	MCF10A-Er-Src	breast:	n/a	chr5:96993994-96994005 chr5:96993997-96994008 chr5:96993994-96994006 chr5:96993996-96994004
20	FOS	chr5:96993870-96994165	MCF10A-Er-Src	breast:	n/a	chr5:96993994-96994005 chr5:96993997-96994008 chr5:96993994-96994006 chr5:96993996-96994004
21	FOSL2	chr5:96993840-96994190	SK-N-SH	brain:	n/a	chr5:96993997-96994008 chr5:96993994-96994006 chr5:96993996-96994004
22	FOSL2	chr5:97002468-97002882	MCF-7	breast:	n/a	chr5:97002676-97002688 chr5:97002679-97002690 chr5:97002677-97002687 chr5:97002678-97002686 chr5:97002678-97002685
23	GATA2	chr5:97026714-97027333	SH-SY5Y	brain:	n/a	chr5:97026774-97026781 chr5:97026774-97026781 chr5:97026769-97026785 chr5:97026767-97026788 chr5:97026774-97026781
24	GATA2	chr5:96992717-96993475	HUVEC	blood vessel:	n/a	n/a
25	GATA3	chr5:97026841-97027074	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr5:96993809-96994315	SK-N-SH	brain:	n/a	chr5:96993997-96994006
27	GATA3	chr5:96993662-96994704	SK-N-SH	brain:	n/a	chr5:96993997-96994006 chr5:96993698-96993709
28	GATA3	chr5:97031304-97031503	SH-SY5Y	brain:	n/a	n/a
29	JUND	chr5:96993713-96994221	SK-N-SH	brain:	n/a	chr5:96993997-96994008 chr5:96993994-96994006 chr5:96993996-96994004
30	JUND	chr5:97034788-97034826	HepG2	liver:	n/a	n/a
31	MAFF	chr5:97031910-97032100	HepG2	liver:	n/a	chr5:97031924-97031942
32	MAFF	chr5:97013198-97013497	HepG2	liver:	n/a	n/a
33	MAFK	chr5:97032404-97032683	IMR90	lung:	n/a	chr5:97032517-97032532
34	MAFK	chr5:97031858-97032161	HepG2	liver:	n/a	n/a
35	MAFK	chr5:97024392-97024611	HepG2	liver:	n/a	chr5:97024510-97024526 chr5:97024515-97024526 chr5:97024515-97024526 chr5:97024514-97024525
36	MAFK	chr5:97032388-97032690	HepG2	liver:	n/a	chr5:97032517-97032532
37	MAFK	chr5:97000299-97000434	IMR90	lung:	n/a	n/a
38	MAFK	chr5:97031128-97031411	HepG2	liver:	n/a	n/a
39	MAFK	chr5:97031870-97032640	HepG2	liver:	n/a	chr5:97032517-97032532
40	MAFK	chr5:97000263-97000497	HepG2	liver:	n/a	n/a
41	MAFK	chr5:97013175-97013445	HepG2	liver:	n/a	n/a
42	NFYA	chr5:97032547-97032665	GM12878	blood:	n/a	n/a
43	PBX3	chr5:96993743-96994643	SK-N-SH	brain:	n/a	n/a
44	PBX3	chr5:97002825-97003351	SK-N-SH	brain:	n/a	n/a
45	PBX3	chr5:96993032-96993422	SK-N-SH	brain:	n/a	n/a
46	PBX3	chr5:97002980-97003327	SK-N-SH	brain:	n/a	n/a
47	PBX3	chr5:96993713-96994269	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr5:97014254-97014433	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr5:97006827-97006935	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr5:97009015-97009050	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:
2	chr5:97027188..97030158-chr5:97031253..97033564,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006750	XLOC_004483
2	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	XLOC_004483
3	lnc-CTD-2215E18.1.1-2	chr5:97006298-97006755	NR_105028
4	lnc-CTD-2215E18.1.1-2	chr5:97004255-97004366	NR_105028
5	lnc-CTD-2215E18.1.1-2	chr5:97006297-97006750	NONHSAT102931
6	lnc-CTD-2215E18.1.1-2	chr5:97004254-97004366	NONHSAT102931

Variant related genes	Relation type
ENSG00000248931	TF binding region

Extended variants
information (count: 1622 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1622 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559157409	chr5:96992857-96992858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577647391	chr5:96992903-96992904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544639139	chr5:96992925-96992926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187369685	chr5:96992940-96992941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367896840	chr5:96992957-96992958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530764205	chr5:96992964-96992965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs386690305	chr5:96992969-96992970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201277945	chr5:96992971-96992972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6556995	chr5:96992975-96992976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560760382	chr5:96993003-96993004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142585852	chr5:96993011-96993012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192333088	chr5:96993059-96993060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs17087681	chr5:96993093-96993094	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539104053	chr5:96993101-96993102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183331119	chr5:96993111-96993112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569270952	chr5:96993214-96993215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187758634	chr5:96993294-96993295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77726451	chr5:96993327-96993328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573407795	chr5:96993363-96993364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534158394	chr5:96993402-96993403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559092114	chr5:96993410-96993411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34654313	chr5:96993462-96993463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192433249	chr5:96993502-96993503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113810155	chr5:96993505-96993506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562951608	chr5:96993529-96993530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574854209	chr5:96993587-96993588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542530691	chr5:96993619-96993620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560994703	chr5:96993644-96993645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75378083	chr5:96993737-96993738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546509625	chr5:96993770-96993771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565079034	chr5:96993814-96993815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57472041	chr5:96993817-96993818	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs551047942	chr5:96993819-96993820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184826802	chr5:96993822-96993823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569282554	chr5:96993919-96993920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566892358	chr5:96993993-96993994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536613865	chr5:96993994-96993995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112271619	chr5:96994029-96994030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567087801	chr5:96994069-96994070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539924384	chr5:96994146-96994147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375496250	chr5:96994150-96994151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150094160	chr5:96994201-96994202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373363968	chr5:96994254-96994255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577323711	chr5:96994276-96994277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538359317	chr5:96994322-96994323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556606447	chr5:96994334-96994335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574917491	chr5:96994363-96994364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138398895	chr5:96994369-96994370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554532176	chr5:96994375-96994376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200667117	chr5:96994397-96994398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96992800-96994800	Enhancers	HUVEC	blood vessel
2	chr5:96993000-96993400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:96993000-96993600	Enhancers	Adipose Nuclei	Adipose
4	chr5:96993000-96994600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:96993400-96993800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:96993600-96994600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:96993800-96994400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:96993800-96994400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:96994000-96994400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:96994000-96994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:96994000-96996600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:96994200-96994600	Enhancers	Liver	Liver
13	chr5:96994600-96994800	Enhancers	Adipose Nuclei	Adipose
14	chr5:97002600-97004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:97004000-97004600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr5:97004200-97004600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:97004800-97006000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:97006000-97026800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:97021000-97021800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:97021600-97021800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr5:97026800-97027400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:97027400-97035800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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