Variant report

Variant	nsv516363
Chromosome Location	chr5:120511120-120551709
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	chr5:120518614-120519156	HepG2	liver:	n/a	chr5:120518723-120518734
2	CEBPB	chr5:120511816-120512016	HepG2	liver:	n/a	chr5:120511903-120511914
3	CEBPB	chr5:120518577-120518857	K562	blood:	n/a	chr5:120518723-120518734
4	CEBPB	chr5:120534992-120535592	Hela-S3	cervix:	n/a	chr5:120534993-120535006
5	CEBPB	chr5:120535010-120535378	IMR90	lung:	n/a	n/a
6	CEBPB	chr5:120518649-120519214	A549	lung:	n/a	chr5:120518723-120518734
7	CEBPB	chr5:120518774-120519213	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr5:120525680-120525830	SK-N-SH_RA	brain:	n/a	n/a
9	CTCF	chr5:120525180-120525330	GM12867	blood:	n/a	n/a
10	CTCF	chr5:120548668-120548698	Fibrobl	skin:	n/a	n/a
11	CTCF	chr5:120525808-120525834	MCF-7	breast:	n/a	n/a
12	CTCF	chr5:120525795-120525851	HepG2	liver:	n/a	n/a
13	CTCF	chr5:120525700-120525850	BE2_C	brain:	n/a	n/a
14	CUX1	chr5:120519092-120519108	GM12878	blood:	n/a	n/a
15	E2F4	chr5:120518565-120518890	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr5:120534892-120535215	SK-N-SH_RA	brain:	n/a	chr5:120534988-120534997
17	EP300	chr5:120525634-120525875	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr5:120534960-120535258	SK-N-SH_RA	brain:	n/a	chr5:120534988-120534997
19	FOS	chr5:120518803-120519274	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr5:120518774-120519248	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr5:120544490-120544621	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:120518804-120519175	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr5:120524526-120524929	HUVEC	blood vessel:	n/a	n/a
24	FOS	chr5:120518508-120519220	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr5:120525340-120525652	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr5:120544447-120544649	MCF10A-Er-Src	breast:	n/a	chr5:120544626-120544638
27	FOS	chr5:120538409-120538473	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr5:120525438-120525638	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr5:120518812-120519175	MCF10A-Er-Src	breast:	n/a	n/a
30	FOSL2	chr5:120518726-120519200	SK-N-SH	brain:	n/a	n/a
31	GATA1	chr5:120537208-120537901	PBDEFetal	blood:	n/a	n/a
32	GATA2	chr5:120518248-120519355	HUVEC	blood vessel:	n/a	chr5:120518432-120518439
33	GATA2	chr5:120524550-120525456	HUVEC	blood vessel:	n/a	n/a
34	GATA3	chr5:120514818-120515357	SK-N-SH	brain:	n/a	chr5:120515084-120515091
35	GATA3	chr5:120518613-120519327	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr5:120518610-120519260	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr5:120534822-120535426	SK-N-SH	brain:	n/a	n/a
38	IRF1	chr5:120534985-120535054	K562	blood:	n/a	chr5:120535008-120535022 chr5:120535011-120535023 chr5:120535013-120535024 chr5:120535012-120535023 chr5:120535011-120535023 chr5:120535010-120535023 chr5:120535011-120535028 chr5:120535012-120535022 chr5:120535012-120535026
39	JUN	chr5:120521433-120521508	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr5:120544471-120544714	H1-hESC	embryonic stem cell:	n/a	chr5:120544626-120544638
41	JUND	chr5:120518738-120519115	SK-N-SH	brain:	n/a	n/a
42	MAFK	chr5:120540901-120541142	HepG2	liver:	n/a	n/a
43	MAFK	chr5:120535668-120535989	HepG2	liver:	n/a	chr5:120535836-120535847 chr5:120535827-120535844 chr5:120535836-120535847 chr5:120535831-120535847 chr5:120535834-120535848 chr5:120535835-120535846
44	MAFK	chr5:120512100-120512241	HepG2	liver:	n/a	n/a
45	MAX	chr5:120518615-120518692	NB4	blood:	n/a	n/a
46	MAZ	chr5:120546304-120546339	HepG2	liver:	n/a	n/a
47	MYC	chr5:120519003-120519173	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr5:120534672-120534736	MCF-7	breast:	n/a	n/a
49	MYC	chr5:120526049-120526171	MCF10A-Er-Src	breast:	n/a	n/a
50	NFIC	chr5:120525375-120526150	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:120525427..120527646-chr5:120529318..120531590,2	K562	blood:
2	chr5:120539543..120541398-chr5:120544523..120546831,2	K562	blood:
3	chr5:120509173..120511287-chr5:120514590..120516648,2	MCF-7	breast:
4	chr5:120525427..120527646-chr5:120529318..120531590,2	K562	blood:
5	chr5:120539543..120541398-chr5:120544523..120546831,2	K562	blood:
6	chr5:120544152..120546595-chr5:120554469..120557280,2	K562	blood:
7	chr5:120509173..120511287-chr5:120514590..120516648,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LOX-8	chr5:120531675-120531905	NONHSAT103452
2	lnc-FTMT-2	chr5:120535399-120535503	ENSG00000229855.4
3	lnc-FTMT-2	chr5:120540703-120540825	ENSG00000229855.4

Variant related genes	Relation type
ENSG00000229855	TF binding region
ENSG00000250847	TF binding region

Extended variants
information (count: 794 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12109237	chr5:120511120-120511121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541174551	chr5:120511131-120511132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528238820	chr5:120511145-120511146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146047624	chr5:120511159-120511160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564937282	chr5:120511169-120511170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62379887	chr5:120511180-120511181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181555803	chr5:120511187-120511188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73268489	chr5:120511264-120511265	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs557841103	chr5:120511304-120511305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28478714	chr5:120511341-120511342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs550764334	chr5:120511403-120511404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375885620	chr5:120511421-120511422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2914086	chr5:120511443-120511444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35843203	chr5:120511468-120511469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534031127	chr5:120511483-120511484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35493584	chr5:120511502-120511503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73268493	chr5:120511579-120511580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368881250	chr5:120511634-120511635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372141433	chr5:120511696-120511697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142927178	chr5:120511720-120511721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111901341	chr5:120511772-120511773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10053662	chr5:120511792-120511793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs563926957	chr5:120518202-120518203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530977990	chr5:120518234-120518235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550454194	chr5:120518263-120518264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115130180	chr5:120518279-120518280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs368604580	chr5:120518358-120518359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184816169	chr5:120518376-120518377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116446727	chr5:120518385-120518386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141639946	chr5:120518387-120518388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs2914082	chr5:120518406-120518407	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189667509	chr5:120518453-120518454	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs528530827	chr5:120518459-120518460	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs547005963	chr5:120518463-120518464	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs180955790	chr5:120518484-120518485	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs145269966	chr5:120518487-120518488	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs556879771	chr5:120518527-120518528	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs575338121	chr5:120518559-120518560	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545383341	chr5:120518563-120518564	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568396906	chr5:120518609-120518610	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs536274537	chr5:120518610-120518611	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs185957315	chr5:120518638-120518639	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs189611962	chr5:120518639-120518640	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs539899017	chr5:120518655-120518656	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs75346970	chr5:120518677-120518678	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs565129900	chr5:120518691-120518692	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576950343	chr5:120518693-120518694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544129685	chr5:120518779-120518780	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562466368	chr5:120518798-120518799	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs17147464	chr5:120518853-120518854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120507600-120511600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:120511600-120511800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:120518200-120518400	Enhancers	HUVEC	blood vessel
4	chr5:120518400-120518600	Enhancers	Fetal Lung	lung
5	chr5:120518400-120518800	Flanking Active TSS	HUVEC	blood vessel
6	chr5:120518600-120519000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:120518600-120520200	Weak transcription	Fetal Lung	lung
8	chr5:120518800-120519000	Enhancers	Fetal Heart	heart
9	chr5:120518800-120520400	Enhancers	HUVEC	blood vessel
10	chr5:120519000-120520400	Weak transcription	Fetal Heart	heart
11	chr5:120519200-120519600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:120520200-120520400	Enhancers	Fetal Lung	lung
13	chr5:120520400-120520600	Enhancers	Fetal Heart	heart
14	chr5:120520400-120523800	Weak transcription	HUVEC	blood vessel
15	chr5:120520400-120525000	Weak transcription	Fetal Lung	lung
16	chr5:120520600-120521200	Weak transcription	Fetal Heart	heart
17	chr5:120521200-120522000	Enhancers	Fetal Heart	heart
18	chr5:120521200-120522000	Enhancers	Dnd41	blood
19	chr5:120522000-120525200	Weak transcription	Dnd41	blood
20	chr5:120523800-120524600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:120523800-120526200	Enhancers	HUVEC	blood vessel
22	chr5:120524600-120526000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:120524800-120526000	Enhancers	Fetal Heart	heart
24	chr5:120525000-120526000	Enhancers	Fetal Lung	lung
25	chr5:120525000-120526200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:120525200-120526000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:120525200-120526000	Enhancers	Adipose Nuclei	Adipose
28	chr5:120525200-120526000	Enhancers	Dnd41	blood
29	chr5:120525400-120525800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:120525600-120526000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr5:120526000-120526800	Weak transcription	Fetal Heart	heart
32	chr5:120526000-120527800	Weak transcription	Dnd41	blood
33	chr5:120526800-120527000	Enhancers	Fetal Heart	heart
34	chr5:120527800-120528400	Enhancers	Dnd41	blood
35	chr5:120534200-120534600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:120534200-120534600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:120534400-120534600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:120534400-120534600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:120534400-120534600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:120534400-120534600	Enhancers	Fetal Lung	lung
41	chr5:120534400-120534800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:120534400-120534800	Enhancers	NHDF-Ad	bronchial
43	chr5:120534400-120534800	Enhancers	Osteobl	bone
44	chr5:120534400-120535000	Enhancers	Fetal Heart	heart
45	chr5:120534400-120535200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:120534600-120534800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:120534600-120534800	Flanking Active TSS	Fetal Lung	lung
48	chr5:120534600-120535000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:120534600-120535000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:120534600-120535000	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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