Variant report

Variant	nsv518102
Chromosome Location	chr4:16386449-16410294
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	chr4:16393964-16394080	HepG2	liver:	n/a	chr4:16394022-16394033
2	CEBPB	chr4:16391458-16391785	H1-hESC	embryonic stem cell:	n/a	chr4:16391602-16391613 chr4:16391602-16391615 chr4:16391602-16391613
3	CTCF	chr4:16410238-16410320	Fibrobl	skin:	n/a	n/a
4	CTCF	chr4:16386300-16386450	HRE	kidney:	n/a	n/a
5	E2F4	chr4:16392312-16392471	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr4:16393127-16393475	MCF10A-Er-Src	breast:	n/a	chr4:16393323-16393335
7	FOS	chr4:16393147-16393452	MCF10A-Er-Src	breast:	n/a	chr4:16393323-16393335
8	FOS	chr4:16393127-16393485	MCF10A-Er-Src	breast:	n/a	chr4:16393323-16393335
9	FOS	chr4:16393030-16393491	MCF10A-Er-Src	breast:	n/a	chr4:16393323-16393335
10	FOXA2	chr4:16409486-16409810	A549	lung:	n/a	n/a
11	MAFF	chr4:16389122-16389359	K562	blood:	n/a	n/a
12	MAFK	chr4:16389153-16389321	K562	blood:	n/a	n/a
13	MAZ	chr4:16390489-16390514	HepG2	liver:	n/a	n/a
14	MYC	chr4:16393241-16393445	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr4:16393272-16393404	MCF10A-Er-Src	breast:	n/a	n/a
16	NR2F2	chr4:16394237-16394557	K562	blood:	n/a	n/a
17	NR2F2	chr4:16394166-16394520	K562	blood:	n/a	n/a
18	NR3C1	chr4:16394076-16394316	A549	lung:	n/a	n/a
19	PAX5	chr4:16395545-16395793	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:16409952-16410029	ProgFib	skin:	n/a	n/a
21	POLR2A	chr4:16401847-16401987	ProgFib	skin:	n/a	n/a
22	SPI1	chr4:16399152-16399428	HL-60	blood:	n/a	chr4:16399346-16399359 chr4:16399348-16399357 chr4:16399347-16399360
23	STAT3	chr4:16393085-16393459	MCF10A-Er-Src	breast:	n/a	chr4:16393266-16393277 chr4:16393268-16393276 chr4:16393260-16393267
24	STAT3	chr4:16393106-16393475	MCF10A-Er-Src	breast:	n/a	chr4:16393266-16393277 chr4:16393268-16393276 chr4:16393260-16393267
25	STAT3	chr4:16393125-16393467	MCF10A-Er-Src	breast:	n/a	chr4:16393266-16393277 chr4:16393268-16393276 chr4:16393260-16393267

No.	Distal block	Cell Line	Cell type
1	chr4:16387221..16389892-chr4:16394899..16397221,2	K562	blood:
2	chr4:16409590..16411758-chr4:16414173..16416975,2	MCF-7	breast:
3	chr4:16387221..16389892-chr4:16394899..16397221,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TAPT1-3	chr4:16389542-16389545	NONHSAT095687
2	lnc-CD38-3	chr4:16403821-16403855	ENSG00000248138.1
3	lnc-CD38-3	chr4:16403821-16403855	NONHSAT095690
4	lnc-TAPT1-3	chr4:16398154-16398946	NONHSAT095687
5	lnc-CD38-3	chr4:16402053-16402156	ENSG00000248138.1

Variant related genes	Relation type
ZEB2P1	TF binding region
ENSG00000248138	TF binding region

Extended variants
information (count: 250 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:250 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1005391	chr4:16386449-16386450	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573637030	chr4:16386547-16386548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1501129	chr4:16386573-16386574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539821617	chr4:16386581-16386582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553186946	chr4:16386615-16386616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573039760	chr4:16386625-16386626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574573561	chr4:16386681-16386682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17497691	chr4:16386742-16386743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372792551	chr4:16386767-16386768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540463705	chr4:16386778-16386779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141165541	chr4:16386818-16386819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544065847	chr4:16386824-16386825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182274121	chr4:16386854-16386855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34418646	chr4:16386876-16386877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6830484	chr4:16386956-16386957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114098017	chr4:16386973-16386974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559976803	chr4:16386979-16386980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4698140	chr4:16386997-16386998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs186830528	chr4:16387005-16387006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561314918	chr4:16387060-16387061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530530584	chr4:16387085-16387086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6830697	chr4:16387090-16387091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs376525018	chr4:16387091-16387092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531140348	chr4:16387120-16387121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144889088	chr4:16387123-16387124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138639556	chr4:16387144-16387145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539439479	chr4:16387257-16387258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546462756	chr4:16387271-16387272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566601876	chr4:16387373-16387374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535527898	chr4:16387374-16387375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs79374046	chr4:16387422-16387423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78611459	chr4:16387440-16387441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538046301	chr4:16387469-16387470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1501130	chr4:16387470-16387471	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140349470	chr4:16387559-16387560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs36023448	chr4:16387561-16387562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190859620	chr4:16387577-16387578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562147658	chr4:16387595-16387596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569233772	chr4:16387600-16387601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78932453	chr4:16387616-16387617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183479238	chr4:16387627-16387628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113365827	chr4:16387638-16387639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs137997831	chr4:16387639-16387640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562575439	chr4:16387646-16387647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531125427	chr4:16387710-16387711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188527914	chr4:16387735-16387736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564606874	chr4:16387753-16387754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192874707	chr4:16387762-16387763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116935931	chr4:16387768-16387769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35224349	chr4:16387785-16387786	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16385600-16388000	Enhancers	Fetal Muscle Leg	muscle
2	chr4:16385800-16386800	Enhancers	Fetal Stomach	stomach
3	chr4:16386000-16386800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:16386400-16386600	Enhancers	Fetal Kidney	kidney
5	chr4:16388000-16388800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:16388600-16389200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:16388800-16389600	Enhancers	Fetal Muscle Leg	muscle
8	chr4:16391400-16391800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:16392800-16393200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:16396800-16397600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr4:16397600-16399000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:16399000-16399400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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