Variant report

Variant	esv989228
Chromosome Location	chr5:75466097-75470949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr5:75470838-75471335	GM12878	blood:	n/a	n/a
2	BHLHE40	chr5:75470933-75471235	GM12878	blood:	n/a	n/a
3	CTCF	chr5:75470922-75471198	A549	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
4	CTCF	chr5:75470938-75471166	A549	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
5	CTCF	chr5:75470916-75471197	GM19238	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
6	CTCF	chr5:75470942-75471213	MCF-7	breast:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
7	CTCF	chr5:75470884-75471171	K562	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
8	CTCF	chr5:75470940-75471090	A549	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
9	CTCF	chr5:75470899-75471161	ECC-1	luminal epithelium:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
10	CTCF	chr5:75470660-75470810	GM12867	blood:	n/a	n/a
11	CTCF	chr5:75470620-75470770	HEK293	kidney:	n/a	n/a
12	CTCF	chr5:75470860-75471290	A549	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
13	CTCF	chr5:75470920-75471070	WI-38	lung:	n/a	n/a
14	CTCF	chr5:75470736-75471320	HCT-116	colon:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
15	CTCF	chr5:75470940-75471090	HVMF	connective:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
16	CTCF	chr5:75470846-75471285	GM12878	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
17	CTCF	chr5:75470763-75471313	MCF-7	breast:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
18	CTCF	chr5:75470940-75471090	GM12873	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
19	CTCF	chr5:75470850-75471183	H1-hESC	embryonic stem cell:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
20	CTCF	chr5:75470940-75471090	GM12875	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
21	CTCF	chr5:75470600-75470750	K562	blood:	n/a	n/a
22	CTCF	chr5:75470750-75472090	SK-N-SH	brain:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
23	CTCF	chr5:75470877-75471194	HepG2	liver:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
24	CTCF	chr5:75470560-75470710	WI-38	lung:	n/a	n/a
25	CTCF	chr5:75470930-75471181	GM12892	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
26	CTCF	chr5:75470824-75471222	H1-hESC	embryonic stem cell:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
27	CTCF	chr5:75470904-75471161	T-47D	breast:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
28	CTCF	chr5:75470660-75470810	AG04450	lung:	n/a	n/a
29	CTCF	chr5:75470778-75471206	K562	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
30	CTCF	chr5:75470070-75470123	MCF-7	breast:	n/a	n/a
31	CTCF	chr5:75470920-75471070	HMEC	breast:	n/a	n/a
32	CTCF	chr5:75470915-75471174	GM20000	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
33	CTCF	chr5:75470861-75471273	IMR90	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
34	CTCF	chr5:75470510-75471444	A549	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
35	CTCF	chr5:75470947-75471227	K562	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
36	CTCF	chr5:75470940-75471090	GM12866	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
37	CTCF	chr5:75470902-75471196	HepG2	liver:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
38	CTCF	chr5:75470856-75471214	K562	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
39	CTCF	chr5:75470947-75471234	Spleen_OC	spleen:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
40	CTCF	chr5:75470922-75471190	GM19240	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
41	CTCF	chr5:75470900-75471148	T-47D	breast:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
42	CTCF	chr5:75470940-75471090	K562	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
43	CTCF	chr5:75470868-75471303	K562	blood:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
44	CTCF	chr5:75470899-75471223	Gliobla	brain:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
45	CTCF	chr5:75470945-75471192	NHEK	skin:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
46	CTCF	chr5:75470940-75471189	Lung_OC	lung:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
47	CTCF	chr5:75470800-75471291	MCF-7	breast:	n/a	chr5:75471073-75471082 chr5:75471062-75471083 chr5:75471067-75471085
48	FOS	chr5:75470919-75471108	MCF10A-Er-Src	breast:	n/a	n/a
49	FOXA2	chr5:75470031-75470262	A549	lung:	n/a	n/a
50	GABPA	chr5:75470055-75470186	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:75469969-75470019	HRE	kidney:	n/a
2	chr5:75469826-75469876	MCF10A-Er-Src	breast:	n/a
3	chr5:75470039-75470089	NHDF-neo	bronchial:	n/a
4	chr5:75469826-75469876	HRPEpiC	eye:	n/a
5	chr5:75469969-75470019	A549	lung:	n/a
6	chr5:75469826-75469876	HNPCEpiC	eye:	n/a
7	chr5:75469904-75469954	SK-N-SH_RA	brain:	n/a
8	chr5:75469904-75469954	NH-A	brain:	n/a
9	chr5:75469826-75469876	HAEpiC	amniotic membrane:	n/a
10	chr5:75469904-75469954	Hela-S3	cervix:	n/a
11	chr5:75469826-75469876	Hepatocyte	liver:	n/a
12	chr5:75470039-75470089	NT2-D1	testis:	n/a
13	chr5:75469826-75469876	HEK293	kidney:	embryo
14	chr5:75470039-75470089	SK-N-SH	brain:	n/a
15	chr5:75469969-75470019	BJ	skin:	n/a
16	chr5:75470039-75470089	MCF-7	breast:	n/a
17	chr5:75469969-75470019	NH-A	brain:	n/a
18	chr5:75469969-75470019	AG09309	skin:	n/a
19	chr5:75469969-75470019	HCT-116	colon:	n/a
20	chr5:75470039-75470089	SAEC	small airway:	n/a
21	chr5:75469904-75469954	NB4	blood:	n/a
22	chr5:75469826-75469876	IMR90	lung:	fetal
23	chr5:75469969-75470019	NT2-D1	testis:	n/a
24	chr5:75469826-75469876	PrEC	prostate:	n/a
25	chr5:75470039-75470089	PFSK-1	brain:	n/a
26	chr5:75469969-75470019	AG04449	skin:	fetal
27	chr5:75469904-75469954	GM12892	blood:	n/a
28	chr5:75470039-75470089	SK-N-SH_RA	brain:	n/a
29	chr5:75469826-75469876	HMEC	breast:	n/a
30	chr5:75470039-75470089	Jurkat	blood:	n/a
31	chr5:75470039-75470089	AG04449	skin:	fetal
32	chr5:75469826-75469876	HL-60	blood:	n/a
33	chr5:75469904-75469954	HCF	heart:	n/a
34	chr5:75469904-75469954	GM12891	blood:	n/a
35	chr5:75470039-75470089	NHBE	bronchial:	n/a
36	chr5:75470039-75470089	HRCEpiC	kidney:	n/a
37	chr5:75469904-75469954	Hepatocyte	liver:	n/a
38	chr5:75469904-75469954	CMK	blood:	n/a
39	chr5:75469969-75470019	AoSMC	blood vessel:	n/a
40	chr5:75469826-75469876	HIPEpiC	eye:	n/a
41	chr5:75469826-75469876	AG09309	skin:	n/a
42	chr5:75470039-75470089	AG04450	lung:	fetal
43	chr5:75469969-75470019	HAEpiC	amniotic membrane:	n/a
44	chr5:75469904-75469954	HNPCEpiC	eye:	n/a
45	chr5:75470039-75470089	HNPCEpiC	eye:	n/a
46	chr5:75469969-75470019	HIPEpiC	eye:	n/a
47	chr5:75470039-75470089	AG10803	skin:	n/a
48	chr5:75469969-75470019	NHBE	bronchial:	n/a
49	chr5:75469969-75470019	SK-N-SH_RA	brain:	n/a
50	chr5:75469826-75469876	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:75370002..75370997-chr5:75470399..75471572,8	MCF-7	breast:
2	chr5:75030911..75031730-chr5:75470555..75471416,3	MCF-7	breast:
3	chr5:75031130..75031721-chr5:75470748..75471418,2	MCF-7	breast:
4	chr5:75370258..75370917-chr5:75470691..75471438,2	MCF-7	breast:
5	chr5:75470625..75471456-chr5:75551799..75552684,5	MCF-7	breast:
6	chr5:75182130..75182669-chr5:75470688..75471450,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251668	TF binding region
ENSG00000254893	TF binding region
ENSG00000251668	CpG island
ENSG00000254893	CpG island

Extended variants
information (count: 55 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570271295	chr5:75466147-75466148	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs371908237	chr5:75470018-75470019	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs375196502	chr5:75470040-75470041	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs572372815	chr5:75470050-75470051	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs186302258	chr5:75470051-75470052	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs372846459	chr5:75470059-75470060	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs114440090	chr5:75470061-75470062	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs542137992	chr5:75470063-75470064	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs146532066	chr5:75470065-75470066	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs11541287	chr5:75470067-75470068	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs563580837	chr5:75470073-75470074	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs386689185	chr5:75470086-75470087	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs541581283	chr5:75470093-75470094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs561787599	chr5:75470117-75470118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs112981212	chr5:75470121-75470122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564066160	chr5:75470126-75470127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs533303494	chr5:75470137-75470138	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550057405	chr5:75470141-75470142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs569866741	chr5:75470170-75470171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191973919	chr5:75470173-75470174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs139085466	chr5:75470217-75470218	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566201404	chr5:75470232-75470233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs113844998	chr5:75470262-75470263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs557777855	chr5:75470266-75470267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs547866565	chr5:75470317-75470318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs571298432	chr5:75470328-75470329	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs537358572	chr5:75470347-75470348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs67940529	chr5:75470429-75470430	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs116970069	chr5:75470438-75470439	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs373182918	chr5:75470439-75470440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs187732498	chr5:75470464-75470465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs544770697	chr5:75470482-75470483	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs140446999	chr5:75470487-75470488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs570217499	chr5:75470499-75470500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs114719640	chr5:75470510-75470511	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs191366388	chr5:75470532-75470533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs182635185	chr5:75470555-75470556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs150391929	chr5:75470558-75470559	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs187092981	chr5:75470562-75470563	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs563565743	chr5:75470609-75470610	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529160957	chr5:75470623-75470624	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs564759886	chr5:75470647-75470648	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs79748344	chr5:75470652-75470653	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs533334069	chr5:75470662-75470663	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs191944754	chr5:75470696-75470697	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs528604330	chr5:75470784-75470785	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551422290	chr5:75470815-75470816	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs4704283	chr5:75470816-75470817	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs116202684	chr5:75470835-75470836	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs570060379	chr5:75470869-75470870	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Thoracic aortic aneurysm	21092924	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
Spinal muscular atrophy	21762474	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75470600-75471200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:75470600-75472200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr5:75470600-75472600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr5:75470600-75472800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:75470600-75476400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:75470800-75471200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr5:75470800-75471400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:75470800-75472600	Enhancers	Primary B cells from peripheral blood	blood

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