Variant report

Variant	esv20413
Chromosome Location	chr5:52497292-52500173
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:170)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:170 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr5:52497763-52497949	K562	blood:	n/a	n/a
2	CEBPB	chr5:52500030-52500264	HepG2	liver:	n/a	chr5:52500137-52500148
3	CEBPB	chr5:52500077-52500200	K562	blood:	n/a	chr5:52500137-52500148
4	CTCF	chr5:52497700-52497850	GM06990	blood:	n/a	n/a
5	CTCF	chr5:52497680-52497830	MCF-7	breast:	n/a	n/a
6	CTCF	chr5:52497740-52497890	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr5:52497724-52497778	GM13976	blood:	n/a	n/a
8	CTCF	chr5:52497660-52497810	GM12869	blood:	n/a	n/a
9	CTCF	chr5:52497680-52497842	GM19240	blood:	n/a	n/a
10	CTCF	chr5:52497720-52497870	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr5:52497663-52497854	A549	lung:	n/a	n/a
12	CTCF	chr5:52497680-52497830	HFF	foreskin:	n/a	n/a
13	CTCF	chr5:52497700-52497850	GM12868	blood:	n/a	n/a
14	CTCF	chr5:52497695-52497820	MCF-7	breast:	n/a	n/a
15	CTCF	chr5:52497640-52497790	GM12872	blood:	n/a	n/a
16	CTCF	chr5:52497733-52497846	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr5:52497620-52497770	HCM	heart:	n/a	n/a
18	CTCF	chr5:52497700-52497850	HepG2	liver:	n/a	n/a
19	CTCF	chr5:52497620-52497770	AG04450	lung:	n/a	n/a
20	CTCF	chr5:52497682-52497840	GM19239	blood:	n/a	n/a
21	CTCF	chr5:52497720-52497870	HMF	breast:	n/a	n/a
22	CTCF	chr5:52497700-52497850	HRE	kidney:	n/a	n/a
23	CTCF	chr5:52497680-52497830	GM12864	blood:	n/a	n/a
24	CTCF	chr5:52497700-52497850	AG09319	gingival:	n/a	n/a
25	CTCF	chr5:52497780-52497930	NB4	blood:	n/a	n/a
26	CTCF	chr5:52497640-52497790	GM12869	blood:	n/a	n/a
27	CTCF	chr5:52497541-52497859	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:52497660-52497810	HFF-Myc	foreskin:	n/a	n/a
29	CTCF	chr5:52497740-52497890	A549	lung:	n/a	n/a
30	CTCF	chr5:52497680-52497830	HBMEC	blood vessel:	n/a	n/a
31	CTCF	chr5:52497666-52497859	LNCaP	prostate:	n/a	n/a
32	CTCF	chr5:52497693-52497815	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:52497712-52497816	A549	lung:	n/a	n/a
34	CTCF	chr5:52497700-52497850	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr5:52497660-52497873	GM12878	blood:	n/a	n/a
36	CTCF	chr5:52497670-52497837	GM12892	blood:	n/a	n/a
37	CTCF	chr5:52497600-52497750	GM12875	blood:	n/a	n/a
38	CTCF	chr5:52497691-52497825	MCF-7	breast:	n/a	n/a
39	CTCF	chr5:52497740-52497890	GM12864	blood:	n/a	n/a
40	CTCF	chr5:52497680-52497830	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr5:52497660-52497810	HVMF	connective:	n/a	n/a
42	CTCF	chr5:52497740-52497890	GM06990	blood:	n/a	n/a
43	CTCF	chr5:52497680-52497830	HVMF	connective:	n/a	n/a
44	CTCF	chr5:52497640-52497790	GM12801	blood:	n/a	n/a
45	CTCF	chr5:52497720-52497870	NHEK	skin:	n/a	n/a
46	CTCF	chr5:52497677-52497827	ProgFib	skin:	n/a	n/a
47	CTCF	chr5:52497640-52497790	MCF-7	breast:	n/a	n/a
48	CTCF	chr5:52497699-52497846	GM13977	blood:	n/a	n/a
49	CTCF	chr5:52497700-52497850	K562	blood:	n/a	n/a
50	CTCF	chr5:52497660-52497810	NHEK	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52419531..52420160-chr5:52497344..52497892,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213940	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186600733	chr5:52497298-52497299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577196985	chr5:52497304-52497305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34206582	chr5:52497353-52497354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532834087	chr5:52497358-52497359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140780917	chr5:52497363-52497364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34413813	chr5:52497376-52497377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111387493	chr5:52497394-52497395	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs200179820	chr5:52497407-52497408	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372107937	chr5:52497419-52497420	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530226730	chr5:52497444-52497445	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs254482	chr5:52497473-52497474	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs545665888	chr5:52497544-52497545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs113856543	chr5:52497594-52497595	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs115879811	chr5:52497595-52497596	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs535196418	chr5:52497611-52497612	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs166215	chr5:52497637-52497638	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs144729834	chr5:52497647-52497648	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs150970853	chr5:52497650-52497651	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs571055931	chr5:52497651-52497652	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190675051	chr5:52497717-52497718	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547088387	chr5:52497812-52497813	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs139566784	chr5:52497838-52497839	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs112536057	chr5:52497839-52497840	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181777065	chr5:52497880-52497881	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs111470929	chr5:52497884-52497885	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs149729326	chr5:52497923-52497924	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113631741	chr5:52497940-52497941	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs536829762	chr5:52497944-52497945	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs145608763	chr5:52497947-52497948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577053823	chr5:52498066-52498067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541279045	chr5:52498070-52498071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553095055	chr5:52498080-52498081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186432293	chr5:52498083-52498084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112203478	chr5:52498089-52498090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191167208	chr5:52498101-52498102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531154722	chr5:52498108-52498109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556596792	chr5:52498117-52498118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182475679	chr5:52498123-52498124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564665060	chr5:52498198-52498199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116621773	chr5:52498207-52498208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547245869	chr5:52498210-52498211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192262	chr5:52498270-52498271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559161551	chr5:52498279-52498280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73756633	chr5:52498282-52498283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547909959	chr5:52498307-52498308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569409364	chr5:52498336-52498337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140862323	chr5:52498355-52498356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552095389	chr5:52498404-52498405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187953185	chr5:52498426-52498427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534631353	chr5:52498488-52498489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52489000-52507000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52489600-52507800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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