Variant report

Variant	esv1800641
Chromosome Location	chr5:41587271-41595104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:41593533-41593581	GM10266	blood:	n/a	n/a
2	CTCF	chr5:41593585-41593603	GM10248	blood:	n/a	n/a
3	CTCF	chr5:41589900-41590050	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr5:41588673-41589037	SH-SY5Y	brain:	n/a	chr5:41588853-41588864
5	POLR2A	chr5:41590607-41590692	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:41587957-41588002	A549	lung:	n/a	n/a
7	PRDM1	chr5:41593213-41593234	Hela-S3	cervix:	n/a	n/a
8	SPI1	chr5:41590956-41591369	HL-60	blood:	n/a	chr5:41591137-41591144 chr5:41591135-41591148
9	SPI1	chr5:41586856-41587309	HL-60	blood:	n/a	n/a
10	STAT3	chr5:41594325-41594525	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:41587871-41587921	HPAEpiC	pulmonary alveolar:	n/a
2	chr5:41587896-41587946	BJ	skin:	n/a
3	chr5:41587871-41587921	LNCaP	prostate:	n/a
4	chr5:41587931-41587981	LNCaP	prostate:	n/a
5	chr5:41587896-41587946	HEK293	kidney:	embryo
6	chr5:41587896-41587946	SK-N-SH_RA	brain:	n/a
7	chr5:41587931-41587981	SK-N-SH	brain:	n/a
8	chr5:41587896-41587946	H1-hESC	embryonic stem cell:	embryo
9	chr5:41587931-41587981	HMEC	breast:	n/a
10	chr5:41587871-41587921	HEK293	kidney:	embryo
11	chr5:41587931-41587981	SK-N-SH_RA	brain:	n/a
12	chr5:41587896-41587946	HRPEpiC	eye:	n/a
13	chr5:41587871-41587921	HCF	heart:	n/a
14	chr5:41587931-41587981	AG09309	skin:	n/a
15	chr5:41587896-41587946	HCPEpiC	choroid plexus:	n/a
16	chr5:41587896-41587946	ECC-1	luminal epithelium:	n/a
17	chr5:41587871-41587921	A549	lung:	n/a
18	chr5:41587896-41587946	RPTEC	kidney:	n/a
19	chr5:41587871-41587921	BE2_C	brain:	n/a
20	chr5:41587896-41587946	GM06990	blood:	n/a
21	chr5:41587931-41587981	NHDF-neo	bronchial:	n/a
22	chr5:41587871-41587921	AG04450	lung:	fetal
23	chr5:41587871-41587921	RPTEC	kidney:	n/a
24	chr5:41587931-41587981	Hepatocyte	liver:	n/a
25	chr5:41587871-41587921	GM12892	blood:	n/a
26	chr5:41587871-41587921	HCPEpiC	choroid plexus:	n/a
27	chr5:41587931-41587981	HNPCEpiC	eye:	n/a
28	chr5:41587871-41587921	Hepatocyte	liver:	n/a
29	chr5:41587931-41587981	SAEC	small airway:	n/a
30	chr5:41587871-41587921	GM06990	blood:	n/a
31	chr5:41587871-41587921	PrEC	prostate:	n/a
32	chr5:41587871-41587921	Caco-2	colon:	n/a
33	chr5:41587871-41587921	NB4	blood:	n/a
34	chr5:41587931-41587981	AG10803	skin:	n/a
35	chr5:41587931-41587981	H1-hESC	embryonic stem cell:	embryo
36	chr5:41587896-41587946	Hela-S3	cervix:	n/a
37	chr5:41587871-41587921	AG04449	skin:	fetal
38	chr5:41587931-41587981	HAEpiC	amniotic membrane:	n/a
39	chr5:41587896-41587946	HNPCEpiC	eye:	n/a
40	chr5:41587931-41587981	A549	lung:	n/a
41	chr5:41587871-41587921	PANC-1	pancreas:	n/a
42	chr5:41587871-41587921	NH-A	brain:	n/a
43	chr5:41587871-41587921	GM12878	blood:	n/a
44	chr5:41587896-41587946	MCF-7	breast:	n/a
45	chr5:41587871-41587921	T-47D	breast:	n/a
46	chr5:41587931-41587981	HCF	heart:	n/a
47	chr5:41587931-41587981	RPTEC	kidney:	n/a
48	chr5:41587871-41587921	SKMC	muscle:	n/a
49	chr5:41587896-41587946	HCM	heart:	n/a
50	chr5:41587896-41587946	ovcar-3	ovarian:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41585351..41588248-chr5:41591011..41592652,2	K562	blood:
2	chr5:41585351..41589024-chr5:41590720..41593383,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251478	TF binding region
ENSG00000251478	CpG island
ENSG00000251478	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs650073	chr5:41587285-41587286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551460276	chr5:41587289-41587290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188695799	chr5:41587294-41587295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571426465	chr5:41587300-41587301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572276542	chr5:41587331-41587332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs650160	chr5:41587341-41587342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555846971	chr5:41587356-41587357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs598318	chr5:41587362-41587363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs531663249	chr5:41587364-41587365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs660833	chr5:41587375-41587376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs1318743	chr5:41587402-41587403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7703790	chr5:41587414-41587415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs572423953	chr5:41587423-41587424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547093859	chr5:41587430-41587431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12658231	chr5:41587486-41587487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533050608	chr5:41587489-41587490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527870338	chr5:41587523-41587524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112058356	chr5:41587541-41587542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571039468	chr5:41587551-41587552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs599176	chr5:41587566-41587567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556256095	chr5:41587580-41587581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568464714	chr5:41587588-41587589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs661845	chr5:41587666-41587667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs662204	chr5:41587690-41587691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572617360	chr5:41587707-41587708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563615801	chr5:41587726-41587727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77271796	chr5:41587729-41587730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557968979	chr5:41587757-41587758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149506427	chr5:41587758-41587759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57080058	chr5:41587783-41587784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs543725227	chr5:41587792-41587793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs600137	chr5:41587799-41587800	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79920342	chr5:41587802-41587803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs600464	chr5:41587824-41587825	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs72760304	chr5:41587832-41587833	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs532895989	chr5:41587852-41587853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs552459947	chr5:41587866-41587867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs566951571	chr5:41587896-41587897	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
39	rs183673873	chr5:41587917-41587918	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs531863719	chr5:41587934-41587935	ZNF genes & repeats	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs550455922	chr5:41587974-41587975	ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs150514315	chr5:41587993-41587994	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs139502388	chr5:41588045-41588046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377248780	chr5:41588047-41588048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547838044	chr5:41588058-41588059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112304400	chr5:41588059-41588060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59309258	chr5:41588067-41588068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531244815	chr5:41588073-41588074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539939989	chr5:41588075-41588076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555908409	chr5:41588089-41588090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	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
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	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
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41585200-41587800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:41587800-41588000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:41588000-41596400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:41589000-41589200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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