Variant report

Variant	nsv966928
Chromosome Location	chr7:55855289-55872502
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	ARID3A	chr7:55870300-55870318	K562	blood:	n/a	n/a
2	BACH1	chr7:55862322-55862529	H1-hESC	embryonic stem cell:	n/a	n/a
3	CBX3	chr7:55864939-55865388	HCT-116	colon:	n/a	n/a
4	CBX3	chr7:55864935-55865274	K562	blood:	n/a	n/a
5	CBX3	chr7:55864948-55865345	HCT-116	colon:	n/a	n/a
6	CBX3	chr7:55864959-55865300	K562	blood:	n/a	n/a
7	CEBPB	chr7:55862291-55862665	MCF-7	breast:	n/a	chr7:55862399-55862410
8	CEBPB	chr7:55862294-55862497	HepG2	liver:	n/a	chr7:55862399-55862410
9	CEBPB	chr7:55859788-55860120	HepG2	liver:	n/a	chr7:55859941-55859954 chr7:55859941-55859952
10	CEBPB	chr7:55862292-55862537	A549	lung:	n/a	chr7:55862399-55862410
11	CEBPB	chr7:55862268-55862679	HCT-116	colon:	n/a	chr7:55862399-55862410
12	CEBPB	chr7:55862300-55862535	A549	lung:	n/a	chr7:55862399-55862410
13	CEBPB	chr7:55855289-55855369	K562	blood:	n/a	n/a
14	CEBPB	chr7:55862243-55862570	Hela-S3	cervix:	n/a	chr7:55862399-55862410
15	CEBPB	chr7:55859826-55860065	H1-hESC	embryonic stem cell:	n/a	chr7:55859941-55859954 chr7:55859941-55859952
16	CEBPB	chr7:55859790-55860072	A549	lung:	n/a	chr7:55859941-55859954 chr7:55859941-55859952
17	CEBPB	chr7:55862253-55862555	K562	blood:	n/a	chr7:55862399-55862410
18	CEBPB	chr7:55859780-55860090	K562	blood:	n/a	chr7:55859941-55859954 chr7:55859941-55859952
19	CEBPB	chr7:55862358-55862505	IMR90	lung:	n/a	chr7:55862399-55862410
20	CEBPB	chr7:55862241-55862744	HCT-116	colon:	n/a	chr7:55862399-55862410
21	CEBPB	chr7:55859789-55860113	IMR90	lung:	n/a	chr7:55859941-55859954 chr7:55859941-55859952
22	CEBPB	chr7:55862286-55862561	HepG2	liver:	n/a	chr7:55862399-55862410
23	CEBPB	chr7:55862315-55862530	ECC-1	luminal epithelium:	n/a	chr7:55862399-55862410
24	CEBPB	chr7:55862272-55862668	MCF-7	breast:	n/a	chr7:55862399-55862410
25	CEBPB	chr7:55862234-55862519	K562	blood:	n/a	chr7:55862399-55862410
26	CHD2	chr7:55862308-55862515	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr7:55862260-55862410	HMEC	breast:	n/a	n/a
28	CTCF	chr7:55862420-55862570	HMEC	breast:	n/a	n/a
29	CTCF	chr7:55862391-55862476	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr7:55866021-55866121	GM20000	blood:	n/a	n/a
31	CTCF	chr7:55862360-55862510	SAEC	small airway:	n/a	n/a
32	CTCF	chr7:55865043-55865067	GM13976	blood:	n/a	n/a
33	CTCF	chr7:55862380-55862530	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr7:55862340-55862490	SAEC	small airway:	n/a	n/a
35	CTCF	chr7:55862360-55862510	HepG2	liver:	n/a	n/a
36	E2F4	chr7:55862320-55862554	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr7:55868572-55868930	MCF10A-Er-Src	breast:	n/a	n/a
38	EP300	chr7:55862298-55862507	Hela-S3	cervix:	n/a	n/a
39	FOS	chr7:55862194-55862557	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr7:55862134-55862649	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr7:55862282-55862554	Hela-S3	cervix:	n/a	n/a
42	FOS	chr7:55862154-55862607	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr7:55862187-55862560	MCF10A-Er-Src	breast:	n/a	n/a
44	FOSL1	chr7:55862268-55862665	HCT-116	colon:	n/a	n/a
45	FOSL1	chr7:55862233-55862566	HCT-116	colon:	n/a	n/a
46	FOSL2	chr7:55862262-55862557	HepG2	liver:	n/a	chr7:55862362-55862373
47	FOSL2	chr7:55862155-55862523	HepG2	liver:	n/a	chr7:55862362-55862373
48	FOSL2	chr7:55862261-55862503	MCF-7	breast:	n/a	chr7:55862362-55862373
49	GTF2F1	chr7:55862370-55862502	Hela-S3	cervix:	n/a	n/a
50	JUN	chr7:55862191-55862538	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSPH-2	chr7:55865639-55866173	NONHSAT120704

Variant related genes	Relation type
RNU6-1126P	TF binding region
CICP12	TF binding region
ENSG00000235738	TF binding region

Extended variants
information (count: 132 )
Associated
traits (count: 84 )

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	rs192041194	chr7:55855712-55855713	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565407675	chr7:55855729-55855730	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs538024672	chr7:55855761-55855762	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567603887	chr7:55855777-55855778	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs147550343	chr7:55855785-55855786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs183418434	chr7:55855788-55855789	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs13232337	chr7:55855825-55855826	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79789063	chr7:55855827-55855828	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs535133187	chr7:55862183-55862184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs559909949	chr7:55862194-55862195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200366169	chr7:55862240-55862241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140175842	chr7:55862315-55862316	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs142721841	chr7:55862317-55862318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs56071015	chr7:55862323-55862324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6980068	chr7:55862345-55862346	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530185124	chr7:55862347-55862348	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs182975397	chr7:55862352-55862353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576242009	chr7:55862365-55862366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548345720	chr7:55862372-55862373	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs6959347	chr7:55862375-55862376	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs186521408	chr7:55862377-55862378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191948508	chr7:55862385-55862386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs150717362	chr7:55862394-55862395	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs559708522	chr7:55862395-55862396	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs183003445	chr7:55862405-55862406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs552522605	chr7:55862410-55862411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564239641	chr7:55862420-55862421	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs531519289	chr7:55862421-55862422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs550030597	chr7:55862439-55862440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377532592	chr7:55862453-55862454	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs535545373	chr7:55862505-55862506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs149893560	chr7:55862550-55862551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs370848650	chr7:55862553-55862554	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs10224225	chr7:55862566-55862567	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539707826	chr7:55862567-55862568	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs4294143	chr7:55862573-55862574	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542470182	chr7:55862587-55862588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536207899	chr7:55862635-55862636	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs577510557	chr7:55862640-55862641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs199785636	chr7:55862657-55862658	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546511385	chr7:55862678-55862679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187450909	chr7:55862699-55862700	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs10257652	chr7:55862844-55862845	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76909462	chr7:55862961-55862962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574012716	chr7:55862993-55862994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544768497	chr7:55864967-55864968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs554706124	chr7:55864977-55864978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs550080869	chr7:55865004-55865005	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573837599	chr7:55865033-55865034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181745003	chr7:55865050-55865051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Glioblastoma multiforme	19115005	CNVD
Breast cancer	17142309	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55862600-55863000	Weak transcription	Pancreas	Pancrea
2	chr7:55865200-55865600	Weak transcription	Pancreas	Pancrea
3	chr7:55865600-55865800	ZNF genes & repeats	Pancreas	Pancrea
4	chr7:55865600-55866000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:55866200-55866400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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