Variant report

Variant	nsv879442
Chromosome Location	chr4:70299686-70328040
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	ARID3A	chr4:70324166-70324568	HepG2	liver:	n/a	n/a
2	CEBPB	chr4:70324212-70324508	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:70324137-70324588	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:70324169-70324482	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:70324164-70324515	HepG2	liver:	n/a	n/a
6	CEBPB	chr4:70324294-70324494	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr4:70319378-70319596	HepG2	liver:	n/a	chr4:70319545-70319556
8	CEBPB	chr4:70302923-70302937	HepG2	liver:	n/a	n/a
9	CTCF	chr4:70314578-70314664	Spleen_OC	spleen:	n/a	n/a
10	E2F4	chr4:70326312-70326487	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr4:70327878-70327954	MCF10A-Er-Src	breast:	n/a	n/a
12	ELK1	chr4:70323159-70323208	K562	blood:	n/a	n/a
13	EP300	chr4:70323993-70324592	HepG2	liver:	n/a	chr4:70324320-70324334
14	EP300	chr4:70324116-70324639	HepG2	liver:	n/a	chr4:70324320-70324334
15	FOXA1	chr4:70324194-70324482	HepG2	liver:	n/a	n/a
16	FOXA1	chr4:70324055-70324616	HepG2	liver:	n/a	n/a
17	FOXA1	chr4:70324022-70324714	HepG2	liver:	n/a	n/a
18	FOXA1	chr4:70321769-70322200	HepG2	liver:	n/a	chr4:70321989-70322001 chr4:70321933-70321945
19	FOXA1	chr4:70321805-70322155	HepG2	liver:	n/a	chr4:70321989-70322001 chr4:70321933-70321945
20	FOXA1	chr4:70324220-70324465	HepG2	liver:	n/a	n/a
21	FOXA2	chr4:70321889-70322066	HepG2	liver:	n/a	chr4:70321989-70322001 chr4:70321933-70321945
22	FOXA2	chr4:70324125-70324682	HepG2	liver:	n/a	n/a
23	GATA3	chr4:70315684-70315959	T-47D	breast:	n/a	n/a
24	HDAC2	chr4:70324121-70324559	HepG2	liver:	n/a	n/a
25	HDAC2	chr4:70324040-70324517	HepG2	liver:	n/a	n/a
26	HNF4A	chr4:70324169-70324511	HepG2	liver:	n/a	chr4:70324365-70324381 chr4:70324369-70324376 chr4:70324362-70324376 chr4:70324363-70324376 chr4:70324227-70324245 chr4:70324363-70324375
27	HNF4A	chr4:70324166-70324533	HepG2	liver:	n/a	chr4:70324365-70324381 chr4:70324369-70324376 chr4:70324362-70324376 chr4:70324363-70324376 chr4:70324227-70324245 chr4:70324363-70324375
28	HNF4G	chr4:70324133-70324490	HepG2	liver:	n/a	chr4:70324365-70324381 chr4:70324369-70324376 chr4:70324362-70324377 chr4:70324362-70324376 chr4:70324363-70324376 chr4:70324227-70324245 chr4:70324363-70324375
29	HNF4G	chr4:70324165-70324526	HepG2	liver:	n/a	chr4:70324365-70324381 chr4:70324369-70324376 chr4:70324362-70324377 chr4:70324362-70324376 chr4:70324363-70324376 chr4:70324227-70324245 chr4:70324363-70324375
30	IRF3	chr4:70323690-70323699	GM12878	blood:	n/a	n/a
31	MAFF	chr4:70304171-70304427	HepG2	liver:	n/a	n/a
32	MAFF	chr4:70303262-70303434	HepG2	liver:	n/a	n/a
33	MAFK	chr4:70303196-70303471	HepG2	liver:	n/a	chr4:70303236-70303245
34	MAFK	chr4:70304172-70304391	IMR90	lung:	n/a	chr4:70304301-70304312 chr4:70304300-70304311 chr4:70304299-70304313 chr4:70304300-70304311 chr4:70304300-70304316 chr4:70304300-70304315
35	MAFK	chr4:70303298-70303438	HepG2	liver:	n/a	n/a
36	MAFK	chr4:70307980-70308214	HepG2	liver:	n/a	n/a
37	MAFK	chr4:70304187-70304416	HepG2	liver:	n/a	chr4:70304301-70304312 chr4:70304300-70304311 chr4:70304299-70304313 chr4:70304300-70304311 chr4:70304300-70304316 chr4:70304300-70304315
38	MAFK	chr4:70304181-70304486	HepG2	liver:	n/a	chr4:70304301-70304312 chr4:70304300-70304311 chr4:70304299-70304313 chr4:70304300-70304311 chr4:70304300-70304316 chr4:70304300-70304315
39	MAX	chr4:70325839-70326035	NB4	blood:	n/a	n/a
40	MBD4	chr4:70324102-70324543	HepG2	liver:	n/a	n/a
41	MXI1	chr4:70315004-70315044	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYBL2	chr4:70323955-70324612	HepG2	liver:	n/a	n/a
43	MYC	chr4:70306785-70306852	GM12878	blood:	n/a	n/a
44	MYC	chr4:70301204-70301213	H1-hESC	embryonic stem cell:	n/a	n/a
45	NFIC	chr4:70324035-70324743	HepG2	liver:	n/a	n/a
46	NFIC	chr4:70324118-70324521	HepG2	liver:	n/a	n/a
47	NR2F2	chr4:70323985-70324673	HepG2	liver:	n/a	n/a
48	NR2F2	chr4:70323932-70324700	HepG2	liver:	n/a	n/a
49	POLR2A	chr4:70314973-70315033	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr4:70312070-70312361	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:169797130..169797902-chr4:70311918..70312713,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UGT2B28-6	chr4:70304044-70304260	NONHSAT096765
2	lnc-UGT2B28-6	chr4:70306600-70306768	NONHSAT096765
3	lnc-UGT2B28-6	chr4:70303075-70303156	NONHSAT096765
4	lnc-UGT2B28-7	chr4:70315732-70315864	NONHSAT096766
5	lnc-UGT2B28-7	chr4:70317229-70317331	NONHSAT096766

Variant related genes	Relation type
ENSG00000249686	TF binding region
ENSG00000250828	TF binding region

Extended variants
information (count: 458 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2736486	chr4:70299686-70299687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546694038	chr4:70299702-70299703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111944522	chr4:70299759-70299760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115350606	chr4:70299764-70299765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372984576	chr4:70299880-70299881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565135966	chr4:70299887-70299888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182557853	chr4:70299905-70299906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377174756	chr4:70299911-70299912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547507641	chr4:70299939-70299940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566990376	chr4:70299967-70299968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529660946	chr4:70299977-70299978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370818410	chr4:70300004-70300005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538146626	chr4:70300007-70300008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76341565	chr4:70300008-70300009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188026325	chr4:70300028-70300029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558163233	chr4:70300046-70300047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560524017	chr4:70300081-70300082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192360111	chr4:70300114-70300115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534115504	chr4:70300148-70300149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184696982	chr4:70300156-70300157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532724188	chr4:70300183-70300184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60426935	chr4:70300196-70300197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574136097	chr4:70300212-70300213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34009476	chr4:70300222-70300223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs60834314	chr4:70300223-70300224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57886658	chr4:70300238-70300239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543053747	chr4:70300245-70300246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556143606	chr4:70300274-70300275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2736485	chr4:70300300-70300301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs576356517	chr4:70300341-70300342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545316358	chr4:70300360-70300361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565019445	chr4:70300376-70300377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147912737	chr4:70300384-70300385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540801686	chr4:70300449-70300450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557647108	chr4:70300493-70300494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188069785	chr4:70300547-70300548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs6819872	chr4:70300573-70300574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529697881	chr4:70300664-70300665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535676009	chr4:70300679-70300680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549454689	chr4:70300717-70300718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562988772	chr4:70300723-70300724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116186938	chr4:70300740-70300741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192023728	chr4:70300747-70300748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184672900	chr4:70300773-70300774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181458261	chr4:70302927-70302928	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs186044769	chr4:70303112-70303113	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs553700811	chr4:70303137-70303138	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs17607247	chr4:70303138-70303139	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557200810	chr4:70303150-70303151	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs570590246	chr4:70303156-70303157	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:70297000-70300400	Weak transcription	Liver	Liver
2	chr4:70300400-70300800	Enhancers	Liver	Liver
3	chr4:70309600-70310200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr4:70310200-70312400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:70312200-70312600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:70312400-70313000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:70321400-70322000	Enhancers	HepG2	liver
8	chr4:70321400-70322200	Enhancers	Liver	Liver
9	chr4:70322000-70323400	Weak transcription	HepG2	liver
10	chr4:70322200-70323400	Weak transcription	Liver	Liver
11	chr4:70323400-70324000	Enhancers	Liver	Liver
12	chr4:70323400-70325200	Enhancers	HepG2	liver
13	chr4:70324000-70324200	Flanking Active TSS	Liver	Liver
14	chr4:70324200-70324400	Enhancers	Liver	Liver
15	chr4:70324200-70324600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:70324400-70324600	Flanking Active TSS	Liver	Liver
17	chr4:70324600-70325200	Enhancers	Liver	Liver

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