Variant report

Variant	esv2810
Chromosome Location	chr4:59428963-59435592
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	BHLHE40	chr4:59429475-59429629	K562	blood:	n/a	n/a
2	CEBPB	chr4:59433275-59433358	HepG2	liver:	n/a	chr4:59433335-59433346 chr4:59433333-59433344 chr4:59433333-59433346
3	EBF1	chr4:59430962-59430976	GM12878	blood:	n/a	n/a
4	EP300	chr4:59429295-59429951	T-47D	breast:	n/a	n/a
5	EP300	chr4:59429381-59429933	T-47D	breast:	n/a	n/a
6	FOS	chr4:59430783-59430985	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr4:59430693-59430901	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:59430730-59430922	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:59430746-59430981	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr4:59430081-59430094	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA1	chr4:59429282-59429845	T-47D	breast:	n/a	n/a
12	FOXA1	chr4:59429355-59429867	T-47D	breast:	n/a	n/a
13	GATA3	chr4:59429367-59429900	T-47D	breast:	n/a	n/a
14	GATA3	chr4:59429267-59429864	T-47D	breast:	n/a	n/a
15	JUND	chr4:59429335-59429946	T-47D	breast:	n/a	n/a
16	JUND	chr4:59430754-59430954	HepG2	liver:	n/a	chr4:59430786-59430797
17	JUND	chr4:59428345-59429036	T-47D	breast:	n/a	n/a
18	MAFK	chr4:59431019-59431295	HepG2	liver:	n/a	n/a
19	MAFK	chr4:59431092-59431272	HepG2	liver:	n/a	n/a
20	MYC	chr4:59432643-59432702	GM12878	blood:	n/a	n/a
21	POLR2A	chr4:59434550-59434737	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr4:59430669-59431388	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr4:59430731-59431349	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr4:59435577-59436037	MCF10A-Er-Src	breast:	n/a	n/a
25	RCOR1	chr4:59433745-59433825	GM12878	blood:	n/a	n/a
26	REST	chr4:59430586-59431564	H1-neurons	neurons:	n/a	n/a
27	STAT3	chr4:59435392-59435759	MCF10A-Er-Src	breast:	n/a	chr4:59435648-59435656 chr4:59435607-59435614
28	STAT3	chr4:59431435-59431528	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POLR2B-5	chr4:59433681-59433840	XLOC_003550
2	lnc-IGFBP7-4	chr4:59431234-59431287	XLOC_003961
3	lnc-IGFBP7-4	chr4:59429672-59429882	XLOC_003961
4	lnc-POLR2B-5	chr4:59433707-59433845	NONHSAT096574
5	lnc-IGFBP7-4	chr4:59431234-59431369	XLOC_003961
6	lnc-POLR2B-5	chr4:59431580-59431723	XLOC_003550
7	lnc-IGFBP7-4	chr4:59429672-59429882	XLOC_003961

Variant related genes	Relation type
ENSG00000250078	TF binding region
WEE1	miRNA target sites

Extended variants
information (count: 200 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571753563	chr4:59429632-59429633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542204291	chr4:59429634-59429635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565868016	chr4:59429638-59429639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192882230	chr4:59429646-59429647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116659915	chr4:59429661-59429662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549579866	chr4:59429681-59429682	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs376582349	chr4:59429713-59429714	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs565125423	chr4:59429775-59429776	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs13109436	chr4:59429795-59429796	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547762170	chr4:59429810-59429811	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs138935036	chr4:59429819-59429820	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs557488590	chr4:59429836-59429837	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs536511245	chr4:59429838-59429839	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs184635522	chr4:59429853-59429854	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs13108091	chr4:59429854-59429855	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188213610	chr4:59429948-59429949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs516432	chr4:59429953-59429954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558766366	chr4:59429980-59429981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149411507	chr4:59430047-59430048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534883858	chr4:59430060-59430061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs180700265	chr4:59430086-59430087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574797206	chr4:59430095-59430096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186262779	chr4:59430101-59430102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377455438	chr4:59430102-59430103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554567038	chr4:59430131-59430132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556295338	chr4:59430186-59430187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558631193	chr4:59430187-59430188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189305042	chr4:59430226-59430227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72630939	chr4:59430350-59430351	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs181872682	chr4:59430360-59430361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13103825	chr4:59430440-59430441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555971200	chr4:59430477-59430478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138333253	chr4:59430497-59430498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144297628	chr4:59430541-59430542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186891549	chr4:59430545-59430546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140716624	chr4:59430548-59430549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79584130	chr4:59430593-59430594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370444549	chr4:59430619-59430620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544866851	chr4:59430623-59430624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191284374	chr4:59430649-59430650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564488739	chr4:59430674-59430675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13109975	chr4:59430679-59430680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375717955	chr4:59430747-59430748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183369874	chr4:59430753-59430754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185578589	chr4:59430761-59430762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542129397	chr4:59430831-59430832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568282570	chr4:59430855-59430856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142824673	chr4:59430926-59430927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557352221	chr4:59430963-59430964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146060339	chr4:59431011-59431012	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	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
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	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
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
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:59429600-59430600	Enhancers	Placenta	Placenta
2	chr4:59430600-59432000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:59431600-59432000	Enhancers	Fetal Intestine Small	intestine
4	chr4:59432000-59433800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:59432200-59433000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:59432200-59433000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:59432200-59433000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:59432400-59432800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:59432400-59433000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:59432400-59433000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr4:59433800-59434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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