Variant report

Variant	esv3470450
Chromosome Location	chr5:41585589-41596580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:41593585-41593603	GM10248	blood:	n/a	n/a
2	CTCF	chr5:41589900-41590050	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr5:41593533-41593581	GM10266	blood:	n/a	n/a
4	GATA3	chr5:41588673-41589037	SH-SY5Y	brain:	n/a	chr5:41588853-41588864
5	MYC	chr5:41596479-41596755	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:41587957-41588002	A549	lung:	n/a	n/a
7	POLR2A	chr5:41590607-41590692	MCF10A-Er-Src	breast:	n/a	n/a
8	PRDM1	chr5:41593213-41593234	Hela-S3	cervix:	n/a	n/a
9	SPI1	chr5:41586941-41587107	GM12878	blood:	n/a	n/a
10	SPI1	chr5:41586856-41587309	HL-60	blood:	n/a	n/a
11	SPI1	chr5:41590956-41591369	HL-60	blood:	n/a	chr5:41591137-41591144 chr5:41591135-41591148
12	STAT3	chr5:41594325-41594525	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr5:41586659-41586668	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	chr5:41587896-41587946	SK-N-SH	brain:	n/a
2	chr5:41587871-41587921	NB4	blood:	n/a
3	chr5:41587931-41587981	HCPEpiC	choroid plexus:	n/a
4	chr5:41587871-41587921	LNCaP	prostate:	n/a
5	chr5:41587931-41587981	HepG2	liver:	n/a
6	chr5:41587896-41587946	CMK	blood:	n/a
7	chr5:41587871-41587921	HRE	kidney:	n/a
8	chr5:41587896-41587946	K562	blood:	n/a
9	chr5:41587871-41587921	HAEpiC	amniotic membrane:	n/a
10	chr5:41587896-41587946	GM12891	blood:	n/a
11	chr5:41587871-41587921	U87	brain:	n/a
12	chr5:41587896-41587946	MCF-7	breast:	n/a
13	chr5:41587871-41587921	HMEC	breast:	n/a
14	chr5:41587896-41587946	HRPEpiC	eye:	n/a
15	chr5:41587896-41587946	Hela-S3	cervix:	n/a
16	chr5:41587931-41587981	ECC-1	luminal epithelium:	n/a
17	chr5:41587896-41587946	Caco-2	colon:	n/a
18	chr5:41587896-41587946	HCF	heart:	n/a
19	chr5:41587871-41587921	HCT-116	colon:	n/a
20	chr5:41587871-41587921	HL-60	blood:	n/a
21	chr5:41587931-41587981	A549	lung:	n/a
22	chr5:41587896-41587946	NHBE	bronchial:	n/a
23	chr5:41587896-41587946	HIPEpiC	eye:	n/a
24	chr5:41587931-41587981	Caco-2	colon:	n/a
25	chr5:41587896-41587946	SK-N-SH_RA	brain:	n/a
26	chr5:41587931-41587981	K562	blood:	n/a
27	chr5:41587931-41587981	Hepatocyte	liver:	n/a
28	chr5:41587871-41587921	AG09309	skin:	n/a
29	chr5:41587896-41587946	AG04449	skin:	fetal
30	chr5:41587871-41587921	HCM	heart:	n/a
31	chr5:41587896-41587946	HCPEpiC	choroid plexus:	n/a
32	chr5:41587896-41587946	HUVEC	blood vessel:	n/a
33	chr5:41587896-41587946	AG09309	skin:	n/a
34	chr5:41587896-41587946	BE2_C	brain:	n/a
35	chr5:41587896-41587946	GM19239	blood:	n/a
36	chr5:41587871-41587921	HUVEC	blood vessel:	n/a
37	chr5:41587931-41587981	LNCaP	prostate:	n/a
38	chr5:41587896-41587946	NT2-D1	testis:	n/a
39	chr5:41587896-41587946	HNPCEpiC	eye:	n/a
40	chr5:41587931-41587981	AG04450	lung:	fetal
41	chr5:41587896-41587946	NH-A	brain:	n/a
42	chr5:41587896-41587946	PANC-1	pancreas:	n/a
43	chr5:41587896-41587946	HepG2	liver:	n/a
44	chr5:41587871-41587921	BJ	skin:	n/a
45	chr5:41587871-41587921	ECC-1	luminal epithelium:	n/a
46	chr5:41587896-41587946	IMR90	lung:	fetal
47	chr5:41587896-41587946	RPTEC	kidney:	n/a
48	chr5:41587871-41587921	AG04449	skin:	fetal
49	chr5:41587896-41587946	NHDF-neo	bronchial:	n/a
50	chr5:41587871-41587921	HRPEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:41585351..41589024-chr5:41590720..41593383,4	K562	blood:
2	chr5:41585351..41588248-chr5:41591011..41592652,2	K562	blood:
3	chr5:41580372..41581911-chr5:41585183..41587101,2	K562	blood:

No data

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

Extended variants
information (count: 493 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:493 , 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	rs560900468	chr5:41585601-41585602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528474142	chr5:41585608-41585609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540273966	chr5:41585618-41585619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189985344	chr5:41585619-41585620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200343224	chr5:41585633-41585634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550739221	chr5:41585634-41585635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111389751	chr5:41585637-41585638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529974207	chr5:41585651-41585652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140934595	chr5:41585660-41585661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150194354	chr5:41585708-41585709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111656464	chr5:41585710-41585711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1645010	chr5:41585719-41585720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs570511425	chr5:41585747-41585748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537557172	chr5:41585767-41585768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74625948	chr5:41585800-41585801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530857000	chr5:41585814-41585815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs16871562	chr5:41585867-41585868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138768466	chr5:41585900-41585901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554835880	chr5:41585914-41585915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573249579	chr5:41585976-41585977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564315224	chr5:41586031-41586032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182528236	chr5:41586038-41586039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564974998	chr5:41586098-41586099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533162222	chr5:41586113-41586114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577233196	chr5:41586135-41586136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187225795	chr5:41586143-41586144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562657404	chr5:41586144-41586145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529860220	chr5:41586184-41586185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142061924	chr5:41586196-41586197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs634858	chr5:41586211-41586212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146340924	chr5:41586269-41586270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527619084	chr5:41586273-41586274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137982577	chr5:41586366-41586367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528947925	chr5:41586368-41586369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548596308	chr5:41586373-41586374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552168472	chr5:41586377-41586378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570371968	chr5:41586383-41586384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112996685	chr5:41586405-41586406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549618584	chr5:41586444-41586445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537387139	chr5:41586478-41586479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116674565	chr5:41586491-41586492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536446301	chr5:41586503-41586504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34781186	chr5:41586544-41586545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554772724	chr5:41586573-41586574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571437640	chr5:41586575-41586576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573187985	chr5:41586577-41586578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534241029	chr5:41586590-41586591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138402480	chr5:41586606-41586607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577172452	chr5:41586607-41586608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367737944	chr5:41586629-41586630	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:5 , 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
5	chr5:41596400-41596800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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