Variant report

Variant	nsv970501
Chromosome Location	chr7:63885715-63895446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr7:63895222-63895430	K562	blood:	n/a	n/a
2	CEBPB	chr7:63893214-63893408	K562	blood:	n/a	n/a
3	CEBPB	chr7:63895212-63895422	K562	blood:	n/a	n/a
4	CEBPB	chr7:63895164-63895722	K562	blood:	n/a	chr7:63895504-63895517
5	CEBPB	chr7:63893954-63894224	K562	blood:	n/a	n/a
6	CEBPB	chr7:63895134-63895460	K562	blood:	n/a	n/a
7	CTCF	chr7:63895220-63895370	MCF-7	breast:	n/a	n/a
8	CTCF	chr7:63895275-63895389	K562	blood:	n/a	n/a
9	CTCF	chr7:63895222-63895497	K562	blood:	n/a	n/a
10	CTCF	chr7:63895312-63895386	LNCaP	prostate:	n/a	n/a
11	CTCF	chr7:63893980-63894130	GM12866	blood:	n/a	n/a
12	CTCF	chr7:63895232-63895445	GM12878	blood:	n/a	n/a
13	EGR1	chr7:63894006-63894220	K562	blood:	n/a	chr7:63894194-63894204
14	EGR1	chr7:63893979-63894182	K562	blood:	n/a	n/a
15	GATA3	chr7:63885831-63886189	MCF-7	breast:	n/a	chr7:63885961-63885970
16	HEY1	chr7:63894023-63894320	K562	blood:	n/a	n/a
17	IRF1	chr7:63892265-63892457	K562	blood:	n/a	n/a
18	IRF1	chr7:63892257-63892448	K562	blood:	n/a	n/a
19	JUN	chr7:63892282-63892503	HepG2	liver:	n/a	chr7:63892386-63892399 chr7:63892387-63892396
20	JUND	chr7:63892307-63892572	HepG2	liver:	n/a	chr7:63892387-63892396
21	KAP1	chr7:63889613-63890047	HEK293	kidney:	n/a	n/a
22	MAX	chr7:63894018-63894204	K562	blood:	n/a	n/a
23	NR2F2	chr7:63885782-63886186	MCF-7	breast:	n/a	chr7:63885935-63885950
24	POLR2A	chr7:63895227-63895401	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:63892256-63892311	K562	blood:	n/a	n/a
26	POLR2A	chr7:63894034-63894282	K562	blood:	n/a	n/a
27	POLR2A	chr7:63894078-63894301	K562	blood:	n/a	n/a
28	POLR2A	chr7:63888095-63888288	MCF10A-Er-Src	breast:	n/a	n/a
29	RFX5	chr7:63892089-63892160	K562	blood:	n/a	n/a
30	SMC3	chr7:63895343-63895370	GM12878	blood:	n/a	n/a
31	TAF1	chr7:63893996-63894262	K562	blood:	n/a	n/a
32	TAF1	chr7:63894025-63894250	K562	blood:	n/a	n/a
33	TAL1	chr7:63885903-63886070	K562	blood:	n/a	n/a
34	TBP	chr7:63893972-63894393	K562	blood:	n/a	n/a
35	TCF7L2	chr7:63894135-63894320	Hela-S3	cervix:	n/a	n/a
36	TEAD4	chr7:63885857-63886138	HepG2	liver:	n/a	chr7:63886021-63886030
37	YY1	chr7:63893971-63894282	K562	blood:	n/a	chr7:63894120-63894142 chr7:63894120-63894130 chr7:63894119-63894135
38	YY1	chr7:63894023-63894284	SK-N-SH_RA	brain:	n/a	chr7:63894120-63894142 chr7:63894120-63894130 chr7:63894119-63894135
39	YY1	chr7:63893975-63894295	K562	blood:	n/a	chr7:63894120-63894142 chr7:63894120-63894130 chr7:63894119-63894135
40	YY1	chr7:63893994-63894310	SK-N-SH_RA	brain:	n/a	chr7:63894120-63894142 chr7:63894120-63894130 chr7:63894119-63894135
41	ZNF274	chr7:63889584-63890143	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF274	chr7:63889410-63890296	K562	blood:	n/a	n/a
43	ZNF274	chr7:63889590-63890020	K562	blood:	n/a	n/a
44	ZNF274	chr7:63889632-63890065	GM08714	blood:	n/a	n/a
45	ZNF274	chr7:63889428-63890226	NT2-D1	testis:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:63894251-63894301	PrEC	prostate:	n/a
2	chr7:63894251-63894301	PrEC	prostate:	n/a
3	chr7:63894251-63894301	HNPCEpiC	eye:	n/a
4	chr7:63894251-63894301	GM19239	blood:	n/a
5	chr7:63894251-63894301	GM06990	blood:	n/a
6	chr7:63893895-63893945	NHBE	bronchial:	n/a
7	chr7:63894251-63894301	NB4	blood:	n/a
8	chr7:63893881-63893931	HRCEpiC	kidney:	n/a
9	chr7:63893895-63893945	HCF	heart:	n/a
10	chr7:63893881-63893931	SAEC	small airway:	n/a
11	chr7:63894251-63894301	HMEC	breast:	n/a
12	chr7:63894251-63894301	ECC-1	luminal epithelium:	n/a
13	chr7:63893895-63893945	HMEC	breast:	n/a
14	chr7:63894251-63894301	H1-hESC	embryonic stem cell:	embryo
15	chr7:63894251-63894301	SAEC	small airway:	n/a
16	chr7:63894251-63894301	GM12878	blood:	n/a
17	chr7:63893881-63893931	BE2_C	brain:	n/a
18	chr7:63894251-63894301	HCT-116	colon:	n/a
19	chr7:63893881-63893931	HL-60	blood:	n/a
20	chr7:63894251-63894301	MCF10A-Er-Src	breast:	n/a
21	chr7:63894251-63894301	SK-N-MC	brain:	n/a
22	chr7:63893895-63893945	T-47D	breast:	n/a
23	chr7:63893881-63893931	HRPEpiC	eye:	n/a
24	chr7:63893881-63893931	LNCaP	prostate:	n/a
25	chr7:63894251-63894301	AoSMC	blood vessel:	n/a
26	chr7:63894251-63894301	HCF	heart:	n/a
27	chr7:63893881-63893931	HCPEpiC	choroid plexus:	n/a
28	chr7:63893881-63893931	PANC-1	pancreas:	n/a
29	chr7:63894251-63894301	Caco-2	colon:	n/a
30	chr7:63893881-63893931	NT2-D1	testis:	n/a
31	chr7:63893895-63893945	HepG2	liver:	n/a
32	chr7:63893881-63893931	CMK	blood:	n/a
33	chr7:63894251-63894301	HIPEpiC	eye:	n/a
34	chr7:63893895-63893945	HUVEC	blood vessel:	n/a
35	chr7:63893895-63893945	H1-hESC	embryonic stem cell:	embryo
36	chr7:63893895-63893945	LNCaP	prostate:	n/a
37	chr7:63893895-63893945	AG09309	skin:	n/a
38	chr7:63894251-63894301	NHBE	bronchial:	n/a
39	chr7:63893895-63893945	NT2-D1	testis:	n/a
40	chr7:63894251-63894301	BJ	skin:	n/a
41	chr7:63893881-63893931	GM12891	blood:	n/a
42	chr7:63894251-63894301	AG10803	skin:	n/a
43	chr7:63893895-63893945	A549	lung:	n/a
44	chr7:63893895-63893945	HCPEpiC	choroid plexus:	n/a
45	chr7:63894251-63894301	CMK	blood:	n/a
46	chr7:63894251-63894301	HRCEpiC	kidney:	n/a
47	chr7:63894251-63894301	HRE	kidney:	n/a
48	chr7:63893881-63893931	BJ	skin:	n/a
49	chr7:63893881-63893931	ProgFib	skin:	n/a
50	chr7:63893881-63893931	SK-N-SH_RA	brain:	n/a

No data

Variant related genes	Relation type
YWHAEP1	TF binding region
YWHAEP1	CpG island

Extended variants
information (count: 83 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7798463	chr7:63889220-63889221	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535782152	chr7:63889234-63889235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183292261	chr7:63889241-63889242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs141945758	chr7:63889255-63889256	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7784968	chr7:63889270-63889271	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs374712700	chr7:63889285-63889286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs558245237	chr7:63889313-63889314	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs187081885	chr7:63889320-63889321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs569810144	chr7:63889417-63889418	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139518420	chr7:63889428-63889429	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs7797688	chr7:63889437-63889438	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs191484578	chr7:63889467-63889468	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371505697	chr7:63889509-63889510	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs573109521	chr7:63889524-63889525	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545150696	chr7:63889525-63889526	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs142855891	chr7:63889543-63889544	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532854439	chr7:63889644-63889645	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs151067182	chr7:63889647-63889648	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs563166116	chr7:63889665-63889666	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs6460154	chr7:63889709-63889710	ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs549340445	chr7:63889712-63889713	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs565941714	chr7:63889721-63889722	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs139139258	chr7:63889766-63889767	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs535294044	chr7:63889795-63889796	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs117111992	chr7:63889841-63889842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs571401347	chr7:63889887-63889888	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs28376078	chr7:63889897-63889898	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs182227171	chr7:63889920-63889921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs573735119	chr7:63889935-63889936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs6460155	chr7:63889967-63889968	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs553253874	chr7:63889970-63889971	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573171922	chr7:63889976-63889977	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs545597972	chr7:63889983-63889984	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs535439968	chr7:63890003-63890004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs558921357	chr7:63890023-63890024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs186825471	chr7:63890028-63890029	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs543200783	chr7:63890039-63890040	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563388251	chr7:63890041-63890042	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs11764494	chr7:63890058-63890059	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs528908386	chr7:63890067-63890068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs542600129	chr7:63890093-63890094	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs559708857	chr7:63890098-63890099	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs530266899	chr7:63890125-63890126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs57461945	chr7:63890127-63890128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs6966045	chr7:63890156-63890157	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs551628107	chr7:63890204-63890205	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs147638694	chr7:63890242-63890243	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs530720353	chr7:63890243-63890244	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs562602171	chr7:63890249-63890250	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs567374068	chr7:63890274-63890275	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63889200-63889800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:63895000-63895200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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