Variant report

Variant	nsv526880
Chromosome Location	chr4:76111366-76134763
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	chr4:76115753-76115953	HepG2	liver:	n/a	chr4:76115809-76115820
2	CTCF	chr4:76118940-76119090	GM12866	blood:	n/a	n/a
3	CUX1	chr4:76131561-76131571	GM12878	blood:	n/a	n/a
4	FOS	chr4:76116364-76116492	MCF10A-Er-Src	breast:	n/a	chr4:76116446-76116458 chr4:76116447-76116457 chr4:76116448-76116457 chr4:76116447-76116457 chr4:76116447-76116456 chr4:76116449-76116456
5	FOS	chr4:76116320-76116586	MCF10A-Er-Src	breast:	n/a	chr4:76116446-76116458 chr4:76116447-76116457 chr4:76116448-76116457 chr4:76116447-76116457 chr4:76116447-76116456 chr4:76116449-76116456
6	FOS	chr4:76116266-76116559	MCF10A-Er-Src	breast:	n/a	chr4:76116446-76116458 chr4:76116447-76116457 chr4:76116448-76116457 chr4:76116447-76116457 chr4:76116447-76116456 chr4:76116449-76116456
7	FOS	chr4:76116298-76116569	MCF10A-Er-Src	breast:	n/a	chr4:76116446-76116458 chr4:76116447-76116457 chr4:76116448-76116457 chr4:76116447-76116457 chr4:76116447-76116456 chr4:76116449-76116456
8	FOXA1	chr4:76133115-76133402	T-47D	breast:	n/a	chr4:76133256-76133271
9	MAFF	chr4:76133188-76133252	K562	blood:	n/a	n/a
10	MAFK	chr4:76133076-76133240	IMR90	lung:	n/a	n/a
11	MAFK	chr4:76118095-76118293	HepG2	liver:	n/a	chr4:76118183-76118199 chr4:76118182-76118196 chr4:76118183-76118194 chr4:76118184-76118195 chr4:76118183-76118194
12	NFYB	chr4:76112914-76113075	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:76133482-76133516	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:76133699-76133760	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:76133823-76133871	MCF10A-Er-Src	breast:	n/a	n/a
16	REST	chr4:76127152-76127285	H1-hESC	embryonic stem cell:	n/a	n/a
17	RXRA	chr4:76127146-76127291	HepG2	liver:	n/a	n/a
18	SETDB1	chr4:76122574-76123242	U2OS	brain:	n/a	n/a
19	SETDB1	chr4:76132934-76133281	U2OS	brain:	n/a	n/a
20	SP1	chr4:76127125-76127322	HepG2	liver:	n/a	n/a
21	SPI1	chr4:76126042-76126275	GM12878	blood:	n/a	n/a
22	SPI1	chr4:76124799-76124925	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:76115478..76117516-chr4:76118088..76119671,2	MCF-7	breast:
2	chr4:76115478..76117516-chr4:76118088..76119671,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PARM1-5	chr4:76120077-76120289	NONHSAT096914
2	lnc-RCHY1-7	chr4:76110978-76111910	ucscGeneNc_uc003hii_2
3	lnc-RCHY1-7	chr4:76114521-76114596	ucscGeneNc_uc003hii_2
4	lnc-RCHY1-7	chr4:76113725-76113875	ucscGeneNc_uc003hii_2

Variant related genes	Relation type
ENSG00000250560	TF binding region

Extended variants
information (count: 255 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9996575	chr4:76111366-76111367	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373660406	chr4:76111371-76111372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs184354015	chr4:76111389-76111390	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs34997374	chr4:76111409-76111410	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs183807220	chr4:76111444-76111445	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs141744058	chr4:76111468-76111469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs531498265	chr4:76111509-76111510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs370828047	chr4:76111528-76111529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs186681508	chr4:76111560-76111561	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs561971075	chr4:76111588-76111589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs528923118	chr4:76111589-76111590	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs546974295	chr4:76111603-76111604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs565467360	chr4:76111608-76111609	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs539170684	chr4:76111610-76111611	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs551029236	chr4:76111614-76111615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs570968407	chr4:76111615-76111616	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs538391176	chr4:76111618-76111619	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532679986	chr4:76111640-76111641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs556628521	chr4:76111668-76111669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs147185952	chr4:76111675-76111676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs535884415	chr4:76111702-76111703	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs554185046	chr4:76111703-76111704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs4626285	chr4:76111708-76111709	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546333756	chr4:76111709-76111710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs375404527	chr4:76111749-76111750	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs576161008	chr4:76111755-76111756	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs184235663	chr4:76111798-76111799	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs561868643	chr4:76111809-76111810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs371243910	chr4:76111816-76111817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs112105248	chr4:76111817-76111818	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs113680626	chr4:76111823-76111824	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs532728608	chr4:76111824-76111825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs551193991	chr4:76111870-76111871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs35443012	chr4:76111892-76111893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs397994028	chr4:76111909-76111910	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs369829940	chr4:76111910-76111911	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs538441951	chr4:76113635-76113636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139109879	chr4:76113637-76113638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115524305	chr4:76113666-76113667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79347400	chr4:76113682-76113683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs55958806	chr4:76113690-76113691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568975475	chr4:76113730-76113731	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs557270467	chr4:76113742-76113743	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs575440147	chr4:76113756-76113757	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs536288581	chr4:76113777-76113778	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs554626606	chr4:76113795-76113796	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs572842131	chr4:76113838-76113839	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs540339810	chr4:76113842-76113843	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs558638216	chr4:76113862-76113863	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs151044241	chr4:76113863-76113864	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76113600-76115600	Enhancers	Fetal Muscle Leg	muscle
2	chr4:76114200-76114600	Enhancers	Aorta	Aorta
3	chr4:76114600-76114800	Weak transcription	Aorta	Aorta
4	chr4:76114800-76115200	Enhancers	Aorta	Aorta
5	chr4:76115000-76115200	Enhancers	Colon Smooth Muscle	Colon
6	chr4:76115000-76115400	Enhancers	Ovary	ovary
7	chr4:76115200-76116200	Weak transcription	Aorta	Aorta
8	chr4:76115200-76116200	Enhancers	Fetal Stomach	stomach
9	chr4:76115400-76115600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:76115400-76115800	Enhancers	Rectal Smooth Muscle	rectum
11	chr4:76115800-76116000	Enhancers	Colon Smooth Muscle	Colon
12	chr4:76116400-76116600	Enhancers	Aorta	Aorta
13	chr4:76119000-76119200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:76119000-76119200	Weak transcription	Gastric	stomach
15	chr4:76119200-76119400	Enhancers	Gastric	stomach
16	chr4:76119200-76119800	Enhancers	Esophagus	oesophagus
17	chr4:76131800-76132200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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