Variant report

Variant	nsv970500
Chromosome Location	chr7:63601458-63613095
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:63610324-63610410	LNCaP	prostate:	n/a	n/a
2	CTCF	chr7:63611955-63612066	Kidney_OC	kidney:	n/a	n/a
3	FOXA1	chr7:63608454-63608913	T-47D	breast:	n/a	chr7:63608756-63608768
4	FOXA1	chr7:63608446-63608912	T-47D	breast:	n/a	chr7:63608756-63608768
5	FOXA2	chr7:63606252-63606484	A549	lung:	n/a	n/a
6	GATA3	chr7:63608405-63608879	T-47D	breast:	n/a	n/a
7	GATA3	chr7:63608428-63608902	T-47D	breast:	n/a	n/a
8	GATA3	chr7:63604631-63604907	T-47D	breast:	n/a	n/a
9	MAFF	chr7:63602328-63602446	HepG2	liver:	n/a	n/a
10	MAFK	chr7:63602301-63602525	HepG2	liver:	n/a	n/a
11	MAZ	chr7:63610700-63610792	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:63602595-63602666	ProgFib	skin:	n/a	n/a
13	POLR2A	chr7:63611954-63612171	ProgFib	skin:	n/a	n/a
14	POLR2A	chr7:63603356-63603401	K562	blood:	n/a	n/a
15	POLR2A	chr7:63602020-63602265	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:63609749-63609827	Gliobla	brain:	n/a	n/a
17	ZBTB33	chr7:63602141-63602401	K562	blood:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF727-4	chr7:63610065-63610436	ENSG00000229881.1
2	lnc-ZNF727-4	chr7:63602088-63602134	ENSG00000229881.1
3	lnc-ZNF680-18	chr7:63610063-63610810	NONHSAT120987
4	lnc-ZNF727-5	chr7:63610575-63611099	ENSG00000244008.1

No data

Variant related genes	Relation type
VN1R37P	TF binding region
ENSG00000236976	TF binding region

Extended variants
information (count: 143 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375656451	chr7:63602091-63602092	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs368624581	chr7:63602092-63602093	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs370230713	chr7:63602093-63602094	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs200245841	chr7:63602115-63602116	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs546991521	chr7:63602116-63602117	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs201055610	chr7:63602126-63602127	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs560491611	chr7:63602128-63602129	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs370379954	chr7:63602132-63602133	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183926920	chr7:63602205-63602206	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs550635861	chr7:63602224-63602225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs369594622	chr7:63602246-63602247	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs189092681	chr7:63602251-63602252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372806736	chr7:63602297-63602298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs535962856	chr7:63602366-63602367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs552503453	chr7:63602370-63602371	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs566140858	chr7:63602416-63602417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544945694	chr7:63602423-63602424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs9654757	chr7:63602429-63602430	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577765835	chr7:63602458-63602459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs193273446	chr7:63602459-63602460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs185414892	chr7:63602461-63602462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111794503	chr7:63602462-63602463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs148643850	chr7:63602489-63602490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574941119	chr7:63602518-63602519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs41441149	chr7:63602520-63602521	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs146850532	chr7:63602521-63602522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs1836270	chr7:63602542-63602543	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs373018898	chr7:63602553-63602554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs546455103	chr7:63602554-63602555	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs55935811	chr7:63602555-63602556	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551950683	chr7:63602587-63602588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs190266274	chr7:63602602-63602603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs371198899	chr7:63602604-63602605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs568318319	chr7:63602635-63602636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs529700032	chr7:63602644-63602645	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs546329201	chr7:63602656-63602657	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374250905	chr7:63602678-63602679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538282005	chr7:63602686-63602687	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs558797881	chr7:63602698-63602699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs569021756	chr7:63602711-63602712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1836271	chr7:63602731-63602732	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1836272	chr7:63602806-63602807	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs376109920	chr7:63602824-63602825	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62461200	chr7:63602830-63602831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540730455	chr7:63602852-63602853	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs144536827	chr7:63602888-63602889	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577295867	chr7:63602989-63602990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs545845424	chr7:63602994-63602995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs545178055	chr7:63603052-63603053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs35199088	chr7:63603059-63603060	ZNF genes & repeats	n/a	n/a	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63602200-63603400	ZNF genes & repeats	Liver	Liver

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