Variant report

Variant	esv3469180
Chromosome Location	chr5:44514212-44517894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:44515680-44515830	HMEC	breast:	n/a	n/a
2	CTCF	chr5:44515680-44515830	MCF-7	breast:	n/a	n/a
3	CTCF	chr5:44515733-44515901	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr5:44515684-44515933	MCF-7	breast:	n/a	n/a
5	CTCF	chr5:44515762-44515901	MCF-7	breast:	n/a	n/a
6	CTCF	chr5:44515720-44515870	SK-N-SH_RA	brain:	n/a	n/a
7	CTCF	chr5:44515653-44515988	MCF-7	breast:	n/a	n/a
8	CTCF	chr5:44515800-44515950	Caco-2	colon:	n/a	n/a
9	CTCF	chr5:44515720-44515870	HRE	kidney:	n/a	n/a
10	CTCF	chr5:44515838-44515839	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:44515700-44515850	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr5:44515720-44515870	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr5:44515680-44515830	HCT-116	colon:	n/a	n/a
14	CTCF	chr5:44515740-44515890	HMF	breast:	n/a	n/a
15	CTCF	chr5:44515820-44515970	GM12873	blood:	n/a	n/a
16	CTCF	chr5:44515720-44515870	HPF	lung:	n/a	n/a
17	CTCF	chr5:44515680-44515830	HMF	breast:	n/a	n/a
18	CTCF	chr5:44515740-44515890	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:44515700-44515850	HEK293	kidney:	n/a	n/a
20	CTCF	chr5:44515740-44515890	HPF	lung:	n/a	n/a
21	E2F4	chr5:44515240-44515440	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr5:44515317-44515514	MCF10A-Er-Src	breast:	n/a	chr5:44515379-44515387
23	FOS	chr5:44515346-44515540	MCF10A-Er-Src	breast:	n/a	chr5:44515379-44515387
24	POLR2A	chr5:44517879-44517906	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr5:44515065-44515200	MCF10A-Er-Src	breast:	n/a	n/a
26	RAD21	chr5:44515676-44515989	Hela-S3	cervix:	n/a	n/a
27	SMC3	chr5:44515651-44515966	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr5:44514555-44514809	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT3	chr5:44515302-44515476	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:44512619..44514634-chr5:44514954..44516484,2	K562	blood:
2	chr5:44515416..44516161-chr5:44771878..44772607,2	MCF-7	breast:
3	chr5:44515570..44517433-chr5:44808631..44810604,2	MCF-7	breast:
4	chr5:44512619..44514634-chr5:44514954..44516484,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249203	TF binding region
ENSG00000251141	chromatin interactions
ENSG00000112996	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201227408	chr5:44514231-44514232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201719358	chr5:44514232-44514233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149767957	chr5:44514256-44514257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192433108	chr5:44514265-44514266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145691497	chr5:44514270-44514271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114507596	chr5:44514272-44514273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182368997	chr5:44514288-44514289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552564250	chr5:44514289-44514290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557454443	chr5:44514290-44514291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567674898	chr5:44514327-44514328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7710996	chr5:44514350-44514351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs565537960	chr5:44514432-44514433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115285148	chr5:44514483-44514484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113857050	chr5:44514526-44514527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531992281	chr5:44514549-44514550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375468808	chr5:44514595-44514596	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6870835	chr5:44514648-44514649	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs568967096	chr5:44514695-44514696	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs200394858	chr5:44514714-44514715	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201740866	chr5:44514732-44514733	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs186658349	chr5:44514754-44514755	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs554807085	chr5:44514833-44514834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17320917	chr5:44514858-44514859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs575829213	chr5:44514863-44514864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544457803	chr5:44514868-44514869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534110598	chr5:44514919-44514920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561505348	chr5:44514988-44514989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191811224	chr5:44514989-44514990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148961097	chr5:44515057-44515058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12657591	chr5:44515072-44515073	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs35120677	chr5:44515073-44515074	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs528067699	chr5:44515104-44515105	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs577194979	chr5:44515235-44515236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138485169	chr5:44515299-44515300	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs571427589	chr5:44515464-44515465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115221472	chr5:44515477-44515478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142529538	chr5:44515585-44515586	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78440872	chr5:44515687-44515688	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146917697	chr5:44515744-44515745	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74781727	chr5:44515754-44515755	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs566576089	chr5:44515756-44515757	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183977495	chr5:44515772-44515773	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs568519901	chr5:44515790-44515791	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs541871485	chr5:44515804-44515805	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539019287	chr5:44515831-44515832	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs538204072	chr5:44515855-44515856	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs190168826	chr5:44515885-44515886	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs115767000	chr5:44515892-44515893	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544856501	chr5:44515894-44515895	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs535505768	chr5:44515901-44515902	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44511400-44514400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:44512000-44525600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:44513000-44514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:44513800-44515800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:44514000-44515200	Weak transcription	Ovary	ovary
6	chr5:44514400-44515200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:44514800-44515800	Enhancers	Adipose Nuclei	Adipose
8	chr5:44514800-44516000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:44515200-44515800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:44515200-44515800	Enhancers	Hela-S3	cervix
11	chr5:44515200-44516400	Enhancers	Ovary	ovary
12	chr5:44515800-44517000	Weak transcription	Adipose Nuclei	Adipose
13	chr5:44515800-44517200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:44515800-44519800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:44517000-44517200	Enhancers	Adipose Nuclei	Adipose
16	chr5:44517200-44517400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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