Variant report

Variant	esv3422525
Chromosome Location	chr4:47668507-47669868
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	CTCF	chr4:47668854-47668929	Lung_OC	lung:	n/a	n/a
2	CTCF	chr4:47669800-47669950	GM12866	blood:	n/a	n/a
3	FOS	chr4:47669622-47669858	MCF10A-Er-Src	breast:	n/a	chr4:47669765-47669777 chr4:47669763-47669774 chr4:47669767-47669775
4	FOS	chr4:47669690-47669910	MCF10A-Er-Src	breast:	n/a	chr4:47669765-47669777 chr4:47669763-47669774 chr4:47669767-47669775
5	FOS	chr4:47669621-47669912	MCF10A-Er-Src	breast:	n/a	chr4:47669765-47669777 chr4:47669763-47669774 chr4:47669767-47669775
6	FOS	chr4:47669667-47669847	MCF10A-Er-Src	breast:	n/a	chr4:47669765-47669777 chr4:47669763-47669774 chr4:47669767-47669775
7	FOSL2	chr4:47669622-47669880	SK-N-SH	brain:	n/a	chr4:47669765-47669777 chr4:47669763-47669774 chr4:47669767-47669775
8	GATA2	chr4:47668263-47668564	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47664704..47666852-chr4:47669426..47672146,2	K562	blood:

Variant related genes	Relation type
CORIN	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543742733	chr4:47668516-47668517	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs114822806	chr4:47668533-47668534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs375853492	chr4:47668552-47668553	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs561861071	chr4:47668559-47668560	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs545842419	chr4:47668575-47668576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564132985	chr4:47668614-47668615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78272869	chr4:47668642-47668643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200566270	chr4:47668688-47668689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73238624	chr4:47668689-47668690	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543759865	chr4:47668719-47668720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369099563	chr4:47668727-47668728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562376718	chr4:47668738-47668739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6852028	chr4:47668764-47668765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs548059101	chr4:47668765-47668766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28584355	chr4:47668775-47668776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs376211238	chr4:47668784-47668785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565807864	chr4:47668862-47668863	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182841112	chr4:47668890-47668891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551435019	chr4:47668914-47668915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559208402	chr4:47669130-47669131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371406843	chr4:47669134-47669135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555390587	chr4:47669146-47669147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187169787	chr4:47669156-47669157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566174308	chr4:47669192-47669193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551053024	chr4:47669199-47669200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534515520	chr4:47669267-47669268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2351783	chr4:47669315-47669316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568285531	chr4:47669316-47669317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545899897	chr4:47669326-47669327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190096972	chr4:47669377-47669378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373384816	chr4:47669427-47669428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2351784	chr4:47669435-47669436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs115923537	chr4:47669447-47669448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562278365	chr4:47669472-47669473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574253373	chr4:47669473-47669474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35263423	chr4:47669485-47669486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556959720	chr4:47669497-47669498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142438850	chr4:47669559-47669560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559977039	chr4:47669584-47669585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539999237	chr4:47669634-47669635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551524372	chr4:47669643-47669644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376510744	chr4:47669691-47669692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6815552	chr4:47669751-47669752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530458771	chr4:47669755-47669756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6815562	chr4:47669762-47669763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548944760	chr4:47669775-47669776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200047509	chr4:47669794-47669795	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567499495	chr4:47669795-47669796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146657636	chr4:47669813-47669814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567507395	chr4:47669815-47669816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47644400-47681400	Weak transcription	Left Ventricle	heart
2	chr4:47646400-47707400	Weak transcription	Right Ventricle	heart
3	chr4:47653400-47703200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:47666200-47669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:47667600-47672200	Weak transcription	Fetal Heart	heart
6	chr4:47669600-47669800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:47669600-47670000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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