Variant report

Variant	esv2762671
Chromosome Location	chr7:56610656-56628880
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	CTCF	chr7:56619488-56619583	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr7:56627189-56627270	GM13976	blood:	n/a	n/a
3	GATA3	chr7:56614463-56614568	SH-SY5Y	brain:	n/a	n/a
4	MAFK	chr7:56615591-56615677	HepG2	liver:	n/a	n/a
5	MAFK	chr7:56615641-56615780	HepG2	liver:	n/a	n/a
6	MAFK	chr7:56612896-56613058	HepG2	liver:	n/a	chr7:56612977-56612992
7	MAFK	chr7:56612877-56613093	HepG2	liver:	n/a	chr7:56612977-56612992
8	MAZ	chr7:56612577-56612591	GM12878	blood:	n/a	n/a
9	MAZ	chr7:56626499-56626576	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:56613976-56614147	GM12878	blood:	n/a	n/a
11	RFX5	chr7:56614618-56614694	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUMF2-14	chr7:56626914-56627651	NONHSAT120768

Variant related genes	Relation type
ENSG00000233288	TF binding region
VN1R25P	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10215703	chr7:56610656-56610657	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571394040	chr7:56610688-56610689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538760582	chr7:56610726-56610727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs528792046	chr7:56610732-56610733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs112669658	chr7:56610752-56610753	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs557101501	chr7:56610763-56610764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10215705	chr7:56610764-56610765	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192916968	chr7:56610766-56610767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs371101444	chr7:56610768-56610769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs34948923	chr7:56610769-56610770	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs568390583	chr7:56610785-56610786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs539824167	chr7:56610786-56610787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564889668	chr7:56610809-56610810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs10215049	chr7:56610829-56610830	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544329269	chr7:56610886-56610887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs550700857	chr7:56610893-56610894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370340401	chr7:56610914-56610915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548414236	chr7:56611003-56611004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs560169331	chr7:56611014-56611015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs527620375	chr7:56611023-56611024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546553648	chr7:56611059-56611060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34340801	chr7:56611114-56611115	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs73124612	chr7:56611207-56611208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs75096741	chr7:56611221-56611222	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568814457	chr7:56611232-56611233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs539597589	chr7:56611257-56611258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs550667463	chr7:56611269-56611270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs569373505	chr7:56611270-56611271	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs75214340	chr7:56611287-56611288	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs4947553	chr7:56611294-56611295	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370843733	chr7:56611315-56611316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs73124613	chr7:56611340-56611341	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs368130623	chr7:56611345-56611346	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs555172797	chr7:56611356-56611357	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs573442889	chr7:56611381-56611382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534520127	chr7:56611390-56611391	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs141893926	chr7:56611497-56611498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs184743293	chr7:56611509-56611510	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs146495219	chr7:56611692-56611693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370909781	chr7:56611693-56611694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs9656713	chr7:56611757-56611758	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs562569243	chr7:56611867-56611868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs574505812	chr7:56611905-56611906	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541647065	chr7:56611909-56611910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560314299	chr7:56611969-56611970	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs527561334	chr7:56611998-56611999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552053657	chr7:56612050-56612051	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189089510	chr7:56612072-56612073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs139287826	chr7:56612096-56612097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs77277126	chr7:56612135-56612136	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	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
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56605000-56611400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:56605200-56612600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr7:56611200-56611400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:56628600-56629000	Active TSS	Fetal Heart	heart

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