Variant report

Variant	nsv482088
Chromosome Location	chr4:70066047-70080449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr4:70080358-70080837	A549	lung:	n/a	n/a
2	CEBPB	chr4:70077881-70078188	HepG2	liver:	n/a	chr4:70078030-70078041 chr4:70078032-70078043
3	CEBPB	chr4:70077980-70078075	K562	blood:	n/a	chr4:70078030-70078041 chr4:70078032-70078043
4	CEBPB	chr4:70077864-70078215	IMR90	lung:	n/a	chr4:70078030-70078041 chr4:70078032-70078043
5	CTCF	chr4:70070599-70070664	Kidney_OC	kidney:	n/a	n/a
6	CTCF	chr4:70077161-70077220	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr4:70078196-70078250	GM13976	blood:	n/a	n/a
8	CTCF	chr4:70071636-70071728	GM13977	blood:	n/a	n/a
9	EP300	chr4:70080278-70081011	A549	lung:	n/a	n/a
10	EP300	chr4:70080436-70080904	A549	lung:	n/a	n/a
11	FOSL2	chr4:70080058-70080390	HepG2	liver:	n/a	n/a
12	FOSL2	chr4:70080425-70080929	A549	lung:	n/a	n/a
13	FOXA1	chr4:70079717-70080092	HepG2	liver:	n/a	n/a
14	FOXA1	chr4:70078675-70078931	HepG2	liver:	n/a	n/a
15	FOXA1	chr4:70078656-70079040	HepG2	liver:	n/a	n/a
16	FOXA1	chr4:70078036-70078478	HepG2	liver:	n/a	chr4:70078268-70078280
17	FOXA1	chr4:70080316-70080838	HepG2	liver:	n/a	chr4:70080605-70080620
18	FOXA1	chr4:70080217-70080856	HepG2	liver:	n/a	chr4:70080605-70080620
19	FOXA1	chr4:70074036-70074326	HepG2	liver:	n/a	n/a
20	FOXA2	chr4:70078799-70078928	HepG2	liver:	n/a	n/a
21	FOXA2	chr4:70080226-70081013	HepG2	liver:	n/a	n/a
22	FOXA2	chr4:70080268-70080956	A549	lung:	n/a	n/a
23	FOXA2	chr4:70080266-70081008	A549	lung:	n/a	n/a
24	GATA3	chr4:70080425-70081070	A549	lung:	n/a	n/a
25	HEY1	chr4:70079334-70080639	HepG2	liver:	n/a	n/a
26	HEY1	chr4:70080120-70080549	HepG2	liver:	n/a	n/a
27	HEY1	chr4:70079717-70079921	HepG2	liver:	n/a	n/a
28	JUND	chr4:70080188-70080391	HepG2	liver:	n/a	n/a
29	JUND	chr4:70070210-70070435	HepG2	liver:	n/a	n/a
30	MYBL2	chr4:70080186-70080804	HepG2	liver:	n/a	n/a
31	NR3C1	chr4:70073268-70073527	A549	lung:	n/a	n/a
32	NR3C1	chr4:70080385-70080813	A549	lung:	n/a	n/a
33	NR3C1	chr4:70073335-70073676	A549	lung:	n/a	n/a
34	NR3C1	chr4:70073238-70073585	A549	lung:	n/a	n/a
35	NR3C1	chr4:70073171-70073620	A549	lung:	n/a	n/a
36	POLR2A	chr4:70077742-70077824	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr4:70080383-70080482	HepG2	liver:	n/a	n/a
38	POLR2A	chr4:70079527-70080005	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:70079762-70079861	HepG2	liver:	n/a	n/a
40	POLR2A	chr4:70076612-70076974	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr4:70069046-70069213	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:70080068-70080532	HepG2	liver:	n/a	n/a
43	POLR2A	chr4:70080174-70080303	HepG2	liver:	n/a	n/a
44	POLR2A	chr4:70080131-70080497	HepG2	liver:	n/a	n/a
45	POLR2A	chr4:70079918-70080040	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:70076676-70076937	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr4:70079955-70080035	HepG2	liver:	n/a	n/a
48	POLR2A	chr4:70080167-70080371	HepG2	liver:	n/a	n/a
49	REST	chr4:70080346-70080928	A549	lung:	n/a	n/a
50	RXRA	chr4:70080405-70080793	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:70066318-70066368	PrEC	prostate:	n/a
2	chr4:70066318-70066368	SK-N-MC	brain:	n/a
3	chr4:70066318-70066368	SAEC	small airway:	n/a
4	chr4:70066318-70066368	MCF-7	breast:	n/a
5	chr4:70066318-70066368	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:70066318-70066368	Caco-2	colon:	n/a
7	chr4:70066318-70066368	SK-N-SH_RA	brain:	n/a
8	chr4:70066318-70066368	NHBE	bronchial:	n/a
9	chr4:70066318-70066368	HepG2	liver:	n/a
10	chr4:70066318-70066368	AoSMC	blood vessel:	n/a
11	chr4:70066318-70066368	NT2-D1	testis:	n/a
12	chr4:70066318-70066368	GM12891	blood:	n/a
13	chr4:70066318-70066368	RPTEC	kidney:	n/a
14	chr4:70066318-70066368	ovcar-3	ovarian:	n/a
15	chr4:70066318-70066368	HCM	heart:	n/a
16	chr4:70066318-70066368	HRE	kidney:	n/a
17	chr4:70066318-70066368	HRCEpiC	kidney:	n/a
18	chr4:70066318-70066368	AG09309	skin:	n/a
19	chr4:70066318-70066368	PANC-1	pancreas:	n/a
20	chr4:70066318-70066368	HIPEpiC	eye:	n/a
21	chr4:70066318-70066368	HUVEC	blood vessel:	n/a
22	chr4:70066318-70066368	AG04449	skin:	fetal
23	chr4:70066318-70066368	HL-60	blood:	n/a
24	chr4:70066318-70066368	Hela-S3	cervix:	n/a
25	chr4:70066318-70066368	NH-A	brain:	n/a
26	chr4:70066318-70066368	GM19239	blood:	n/a
27	chr4:70066318-70066368	HNPCEpiC	eye:	n/a
28	chr4:70066318-70066368	HEEpiC	esophagus:	n/a
29	chr4:70066318-70066368	GM06990	blood:	n/a
30	chr4:70066318-70066368	AG10803	skin:	n/a
31	chr4:70066318-70066368	K562	blood:	n/a
32	chr4:70066318-70066368	LNCaP	prostate:	n/a
33	chr4:70066318-70066368	HMEC	breast:	n/a
34	chr4:70066318-70066368	HCPEpiC	choroid plexus:	n/a
35	chr4:70066318-70066368	BE2_C	brain:	n/a
36	chr4:70066318-70066368	HEK293	kidney:	embryo
37	chr4:70066318-70066368	A549	lung:	n/a
38	chr4:70066318-70066368	T-47D	breast:	n/a
39	chr4:70066318-70066368	SK-N-SH	brain:	n/a
40	chr4:70066318-70066368	SKMC	muscle:	n/a
41	chr4:70066318-70066368	Jurkat	blood:	n/a
42	chr4:70066318-70066368	NHDF-neo	bronchial:	n/a
43	chr4:70066318-70066368	GM12878	blood:	n/a
44	chr4:70066318-70066368	HCF	heart:	n/a
45	chr4:70066318-70066368	HCT-116	colon:	n/a
46	chr4:70066318-70066368	AG04450	lung:	fetal
47	chr4:70066318-70066368	H1-hESC	embryonic stem cell:	embryo
48	chr4:70066318-70066368	AG09319	gingival:	n/a
49	chr4:70066318-70066368	PFSK-1	brain:	n/a
50	chr4:70066318-70066368	CMK	blood:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:70060045..70062674-chr4:70067007..70069842,2	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B28-1	chr4:70076784-70076865	ENSG00000250696.1
2	lnc-UGT2B28-1	chr4:70080191-70082484	ENSG00000250696.1
3	lnc-UGT2B28-1	chr4:70080191-70080193	ENSG00000250696.1
4	lnc-UGT2B28-1	chr4:70066138-70066296	ENSG00000250696.1
5	lnc-UGT2B28-1	chr4:70076784-70076865	ENSG00000250696.1
6	lnc-UGT2B28-1	chr4:70066190-70066296	ENSG00000250696.1
7	lnc-UGT2B28-1	chr4:70066890-70067002	ENSG00000250696.1

No data

Variant related genes	Relation type
ENSG00000250696	TF binding region
UGT2B11	TF binding region
ENSG00000250696	CpG island
UGT2B11	CpG island

Extended variants
information (count: 398 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113989412	chr4:70066052-70066053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190321390	chr4:70066060-70066061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557690572	chr4:70066071-70066072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201146655	chr4:70066073-70066074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577797835	chr4:70066105-70066106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533634992	chr4:70066165-70066166	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs142443656	chr4:70066221-70066222	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs140682516	chr4:70066256-70066257	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs145786860	chr4:70066267-70066268	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs138369385	chr4:70066297-70066298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200852364	chr4:70066306-70066307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375210301	chr4:70066315-70066316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72551394	chr4:70066319-70066320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150196832	chr4:70066322-70066323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201490184	chr4:70066333-70066334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544368980	chr4:70066337-70066338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564498687	chr4:70066342-70066343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200630131	chr4:70066343-70066344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533617717	chr4:70066348-70066349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546777670	chr4:70066360-70066361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144149579	chr4:70066376-70066377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149344532	chr4:70066378-70066379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560641099	chr4:70066379-70066380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192052646	chr4:70066382-70066383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182764915	chr4:70066383-70066384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556720422	chr4:70066392-70066393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369662379	chr4:70066399-70066400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202195427	chr4:70066403-70066404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531615670	chr4:70066405-70066406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200919649	chr4:70066408-70066409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201914215	chr4:70066424-70066425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376672368	chr4:70066440-70066441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201856899	chr4:70066455-70066456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571344258	chr4:70066457-70066458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534037516	chr4:70066466-70066467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553537280	chr4:70066529-70066530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187482975	chr4:70066540-70066541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535811408	chr4:70066567-70066568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113140168	chr4:70066581-70066582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555760703	chr4:70066645-70066646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575658487	chr4:70066653-70066654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563490977	chr4:70066666-70066667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544570220	chr4:70066686-70066687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368438486	chr4:70066697-70066698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573745153	chr4:70066706-70066707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558476490	chr4:70066708-70066709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578076257	chr4:70066710-70066711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7660248	chr4:70066719-70066720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7660257	chr4:70066726-70066727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529431355	chr4:70066735-70066736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Lung cancer	18438408	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
Multiple myeloma	16616336	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
Acute myeloid leukemia	21251322	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
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70059800-70066800	Weak transcription	Liver	Liver
2	chr4:70066800-70067800	Strong transcription	Liver	Liver
3	chr4:70067800-70070600	Weak transcription	Liver	Liver
4	chr4:70076400-70076600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:70076800-70077800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:70077800-70078200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:70080400-70080800	Enhancers	HepG2	liver

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