Variant report

Variant	esv3327636
Chromosome Location	chr5:69411846-69498644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:391)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:69473052-69473265	GM12878	blood:	n/a	n/a
2	BATF	chr5:69456322-69456651	GM12878	blood:	n/a	n/a
3	BATF	chr5:69456351-69456586	GM12878	blood:	n/a	n/a
4	BATF	chr5:69472886-69473188	GM12878	blood:	n/a	n/a
5	BCL11A	chr5:69456435-69456617	GM12878	blood:	n/a	n/a
6	BCL11A	chr5:69467031-69467204	GM12878	blood:	n/a	n/a
7	BCL11A	chr5:69465859-69466029	GM12878	blood:	n/a	n/a
8	BCL11A	chr5:69456419-69456658	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:69465861-69466202	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:69492919-69493140	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:69497191-69497380	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:69494961-69495194	HepG2	liver:	n/a	n/a
13	BHLHE40	chr5:69466847-69467258	HepG2	liver:	n/a	n/a
14	BHLHE40	chr5:69475972-69476211	HepG2	liver:	n/a	n/a
15	BHLHE40	chr5:69473355-69473594	HepG2	liver:	n/a	n/a
16	BHLHE40	chr5:69434991-69435233	HepG2	liver:	n/a	n/a
17	CEBPB	chr5:69485735-69486086	HepG2	liver:	n/a	chr5:69485899-69485910
18	CTCF	chr5:69423717-69424058	K562	blood:	n/a	n/a
19	CTCF	chr5:69423890-69423987	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr5:69469459-69469519	GM10266	blood:	n/a	n/a
21	CTCF	chr5:69423719-69424098	A549	lung:	n/a	n/a
22	CTCF	chr5:69423718-69424021	K562	blood:	n/a	n/a
23	CTCF	chr5:69428469-69428585	GM10266	blood:	n/a	n/a
24	CTCF	chr5:69427099-69427126	GM13976	blood:	n/a	n/a
25	CTCF	chr5:69428498-69428601	Medullo	brain:	n/a	n/a
26	CTCF	chr5:69423664-69423962	K562	blood:	n/a	n/a
27	CTCF	chr5:69428493-69428644	GM10248	blood:	n/a	n/a
28	CTCF	chr5:69419906-69419977	GM10248	blood:	n/a	n/a
29	CTCF	chr5:69428393-69428728	A549	lung:	n/a	n/a
30	CTCF	chr5:69423765-69423949	A549	lung:	n/a	n/a
31	EBF1	chr5:69465366-69465703	GM12878	blood:	n/a	n/a
32	EBF1	chr5:69469271-69469480	GM12878	blood:	n/a	n/a
33	EBF1	chr5:69491115-69491314	GM12878	blood:	n/a	n/a
34	EBF1	chr5:69477853-69478053	GM12878	blood:	n/a	n/a
35	EBF1	chr5:69467237-69467424	GM12878	blood:	n/a	n/a
36	EBF1	chr5:69456332-69456735	GM12878	blood:	n/a	n/a
37	EBF1	chr5:69456428-69456679	GM12878	blood:	n/a	n/a
38	EP300	chr5:69491516-69491952	GM12878	blood:	n/a	chr5:69491907-69491921
39	EP300	chr5:69484234-69484669	GM12878	blood:	n/a	n/a
40	EP300	chr5:69498403-69498645	GM12878	blood:	n/a	n/a
41	EP300	chr5:69456288-69456627	GM12878	blood:	n/a	n/a
42	EP300	chr5:69492792-69493105	GM12878	blood:	n/a	chr5:69492859-69492869
43	EP300	chr5:69466805-69467267	GM12878	blood:	n/a	n/a
44	EP300	chr5:69497666-69497874	GM12878	blood:	n/a	n/a
45	EP300	chr5:69494450-69494722	GM12878	blood:	n/a	n/a
46	EP300	chr5:69466989-69467220	GM12878	blood:	n/a	n/a
47	EP300	chr5:69423729-69423928	GM12878	blood:	n/a	n/a
48	EP300	chr5:69490698-69490885	GM12878	blood:	n/a	n/a
49	FOSL2	chr5:69484304-69484712	HepG2	liver:	n/a	n/a
50	FOSL2	chr5:69427672-69427918	HepG2	liver:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:69483768-69483818	SK-N-SH_RA	brain:	n/a
2	chr5:69483768-69483818	SK-N-SH_RA	brain:	n/a
3	chr5:69483768-69483818	HUVEC	blood vessel:	n/a
4	chr5:69483768-69483818	HNPCEpiC	eye:	n/a
5	chr5:69483768-69483818	RPTEC	kidney:	n/a
6	chr5:69483768-69483818	PFSK-1	brain:	n/a
7	chr5:69483768-69483818	HCT-116	colon:	n/a
8	chr5:69483768-69483818	HEEpiC	esophagus:	n/a
9	chr5:69483768-69483818	NB4	blood:	n/a
10	chr5:69483768-69483818	HRCEpiC	kidney:	n/a
11	chr5:69483768-69483818	HCF	heart:	n/a
12	chr5:69483768-69483818	GM06990	blood:	n/a
13	chr5:69483768-69483818	HEK293	kidney:	embryo
14	chr5:69483768-69483818	K562	blood:	n/a
15	chr5:69483768-69483818	NHBE	bronchial:	n/a
16	chr5:69483768-69483818	HAEpiC	amniotic membrane:	n/a
17	chr5:69483768-69483818	GM12878	blood:	n/a
18	chr5:69483768-69483818	MCF-7	breast:	n/a
19	chr5:69483768-69483818	H1-hESC	embryonic stem cell:	embryo
20	chr5:69483768-69483818	AG09319	gingival:	n/a
21	chr5:69483768-69483818	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:69483768-69483818	SAEC	small airway:	n/a
23	chr5:69483768-69483818	AG04449	skin:	fetal
24	chr5:69483768-69483818	U87	brain:	n/a
25	chr5:69483768-69483818	SK-N-MC	brain:	n/a
26	chr5:69483768-69483818	A549	lung:	n/a
27	chr5:69483768-69483818	GM12891	blood:	n/a
28	chr5:69483768-69483818	ProgFib	skin:	n/a
29	chr5:69483768-69483818	AG04450	lung:	fetal
30	chr5:69483768-69483818	Jurkat	blood:	n/a
31	chr5:69483768-69483818	AG09309	skin:	n/a
32	chr5:69483768-69483818	PANC-1	pancreas:	n/a
33	chr5:69483768-69483818	IMR90	lung:	fetal
34	chr5:69483768-69483818	MCF10A-Er-Src	breast:	n/a
35	chr5:69483768-69483818	HIPEpiC	eye:	n/a
36	chr5:69483768-69483818	AG10803	skin:	n/a
37	chr5:69483768-69483818	BJ	skin:	n/a
38	chr5:69483768-69483818	HMEC	breast:	n/a
39	chr5:69483768-69483818	GM12892	blood:	n/a
40	chr5:69483768-69483818	GM19239	blood:	n/a
41	chr5:69483768-69483818	PrEC	prostate:	n/a
42	chr5:69483768-69483818	ECC-1	luminal epithelium:	n/a
43	chr5:69483768-69483818	Caco-2	colon:	n/a
44	chr5:69483768-69483818	HCPEpiC	choroid plexus:	n/a
45	chr5:69483768-69483818	HCM	heart:	n/a
46	chr5:69483768-69483818	CMK	blood:	n/a
47	chr5:69483768-69483818	HL-60	blood:	n/a
48	chr5:69483768-69483818	HRPEpiC	eye:	n/a
49	chr5:69483768-69483818	ovcar-3	ovarian:	n/a
50	chr5:69483768-69483818	AoSMC	blood vessel:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAIP-5	chr5:69438158-69438272	NONHSAT101964
2	lnc-NAIP-5	chr5:69435402-69435547	NONHSAT101964
3	lnc-NAIP-5	chr5:69493082-69493223	NONHSAT101964

No data

Variant related genes	Relation type
ENSG00000254701	TF binding region
CDH12P3	TF binding region
ENSG00000179978	TF binding region
ENSG00000254701	CpG island
CDH12P3	CpG island
ENSG00000179978	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 123 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537835486	chr5:69428064-69428065	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs17406396	chr5:69493186-69493187	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs17406382	chr5:69493191-69493192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs201654585	chr5:69497226-69497227	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs199747770	chr5:69497489-69497490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs200010655	chr5:69497703-69497704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200831333	chr5:69497765-69497766	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531111787	chr5:69497820-69497821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:123)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	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
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Mental retardation	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Spinal muscular atrophy	17647030	CNVD
Spinal muscular atrophy	20937953	CNVD
Spinal muscular atrophy	20442745	CNVD
Spinal muscular atrophy	21227393	CNVD
Autism	21865298	CNVD
Disease	19212409	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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