Variant report

Variant	nsv818514
Chromosome Location	chr7:63573594-63584784
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	chr7:63581180-63581211	GM10248	blood:	n/a	n/a
2	CTCF	chr7:63575077-63575121	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr7:63576689-63576774	GM20000	blood:	n/a	n/a
4	POLR2A	chr7:63575086-63575442	MCF-7	breast:	n/a	n/a
5	POLR2A	chr7:63574532-63574571	MCF-7	breast:	n/a	n/a
6	REST	chr7:63574831-63575005	H1-hESC	embryonic stem cell:	n/a	chr7:63574911-63574924 chr7:63574908-63574928 chr7:63574914-63574928 chr7:63574908-63574928

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF727-5	chr7:63580809-63580923	ENSG00000244008.1

Variant related genes	Relation type
GUSBP6	TF binding region
ENSG00000234700	TF binding region
ENSG00000234234	TF binding region
MTND2P4	TF binding region
MTND1P2	TF binding region

Extended variants
information (count: 129 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181979333	chr7:63574405-63574406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541725783	chr7:63574507-63574508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562025731	chr7:63574510-63574511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs527449004	chr7:63574525-63574526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs547652402	chr7:63574570-63574571	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
6	rs80192788	chr7:63574576-63574577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186315995	chr7:63574582-63574583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs17139474	chr7:63574595-63574596	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569914631	chr7:63574600-63574601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs71562906	chr7:63574624-63574625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs191905440	chr7:63574640-63574641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs183233923	chr7:63574643-63574644	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549361834	chr7:63574663-63574664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs566408066	chr7:63574710-63574711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534882035	chr7:63574718-63574719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142204255	chr7:63574733-63574734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs186937152	chr7:63574748-63574749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539121632	chr7:63574749-63574750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs556241198	chr7:63574813-63574814	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376697193	chr7:63574831-63574832	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs202159389	chr7:63574847-63574848	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs575907678	chr7:63574867-63574868	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs541812797	chr7:63574930-63574931	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs555363919	chr7:63574932-63574933	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
25	rs7780871	chr7:63574934-63574935	ZNF genes & repeats	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114733642	chr7:63574950-63574951	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs564243843	chr7:63574960-63574961	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs369374139	chr7:63574993-63574994	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs149326304	chr7:63575003-63575004	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs7800675	chr7:63575006-63575007	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs563804047	chr7:63575028-63575029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144435949	chr7:63575052-63575053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs35526785	chr7:63575064-63575065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs549401114	chr7:63575068-63575069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376735068	chr7:63575069-63575070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs191329767	chr7:63575086-63575087	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs528789057	chr7:63575087-63575088	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
38	rs369807461	chr7:63575092-63575093	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
39	rs367980761	chr7:63575114-63575115	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
40	rs34638523	chr7:63575123-63575124	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs7804572	chr7:63575149-63575150	ZNF genes & repeats	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs111526015	chr7:63575172-63575173	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs537257417	chr7:63575181-63575182	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs542413247	chr7:63575204-63575205	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs562714448	chr7:63575213-63575214	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs137907659	chr7:63575254-63575255	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs535089373	chr7:63575310-63575311	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs183190798	chr7:63575330-63575331	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs572092382	chr7:63575333-63575334	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs541297593	chr7:63575363-63575364	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63574400-63576000	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:63574600-63575600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:63575000-63575400	ZNF genes & repeats	Colonic Mucosa	Colon
4	chr7:63576600-63577200	ZNF genes & repeats	Ovary	ovary
5	chr7:63577200-63577600	Active TSS	Fetal Heart	heart

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