Variant report

Variant	nsv981774
Chromosome Location	chr7:63895446-63917724
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	BACH1	chr7:63906115-63906206	K562	blood:	n/a	n/a
2	BACH1	chr7:63908265-63908542	K562	blood:	n/a	n/a
3	CEBPB	chr7:63895134-63895460	K562	blood:	n/a	n/a
4	CEBPB	chr7:63895164-63895722	K562	blood:	n/a	chr7:63895504-63895517
5	CEBPB	chr7:63900653-63900841	HepG2	liver:	n/a	chr7:63900720-63900731
6	CEBPB	chr7:63900689-63900889	K562	blood:	n/a	chr7:63900720-63900731
7	CEBPB	chr7:63899989-63900264	K562	blood:	n/a	n/a
8	CTCF	chr7:63895222-63895497	K562	blood:	n/a	n/a
9	CTCF	chr7:63911356-63911446	GM20000	blood:	n/a	n/a
10	CTCF	chr7:63905835-63905898	Kidney_OC	kidney:	n/a	n/a
11	GATA3	chr7:63907115-63907315	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr7:63901914-63902255	SH-SY5Y	brain:	n/a	n/a
13	IRF1	chr7:63899756-63899774	K562	blood:	n/a	n/a
14	IRF1	chr7:63901958-63902106	K562	blood:	n/a	n/a
15	IRF1	chr7:63917710-63917741	K562	blood:	n/a	chr7:63917723-63917736 chr7:63917723-63917737 chr7:63917722-63917736 chr7:63917724-63917734 chr7:63917724-63917738
16	KAP1	chr7:63899471-63899644	K562	blood:	n/a	n/a
17	MAFK	chr7:63905091-63905118	HepG2	liver:	n/a	n/a
18	MAX	chr7:63899312-63899547	NB4	blood:	n/a	chr7:63899394-63899407 chr7:63899396-63899406 chr7:63899394-63899404 chr7:63899394-63899407 chr7:63899392-63899407 chr7:63899395-63899406 chr7:63899394-63899409 chr7:63899396-63899405 chr7:63899395-63899406
19	NFYB	chr7:63898353-63898553	GM12878	blood:	n/a	n/a
20	NRF1	chr7:63898430-63898525	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr7:63903353-63903417	K562	blood:	n/a	n/a
22	POLR2A	chr7:63901363-63901409	A549	lung:	n/a	n/a
23	POLR2A	chr7:63908644-63908792	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr7:63917632-63917832	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr7:63901348-63901355	A549	lung:	n/a	n/a
26	POLR2A	chr7:63905122-63905359	K562	blood:	n/a	n/a
27	POLR2A	chr7:63902769-63902959	K562	blood:	n/a	n/a
28	POLR2A	chr7:63901184-63901234	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:63899800-63899993	MCF10A-Er-Src	breast:	n/a	n/a
30	RFX5	chr7:63911926-63912302	K562	blood:	n/a	n/a
31	STAT3	chr7:63898104-63898387	MCF10A-Er-Src	breast:	n/a	n/a
32	TBL1XR1	chr7:63895967-63896026	K562	blood:	n/a	n/a
33	TBL1XR1	chr7:63910988-63911106	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63901206..63903740-chr7:63907756..63910733,2	K562	blood:
2	chr7:63901206..63903740-chr7:63907756..63910733,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF680-13	chr7:63904180-63905120	NONHSAT121015

Variant related genes	Relation type
VN1R40P	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181461480	chr7:63904180-63904181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs551387121	chr7:63904196-63904197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs10267973	chr7:63904201-63904202	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537386943	chr7:63904251-63904252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186420934	chr7:63904269-63904270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs574163136	chr7:63904296-63904297	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs536823447	chr7:63904301-63904302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs13237578	chr7:63904302-63904303	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374938305	chr7:63904342-63904343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs550447000	chr7:63904369-63904370	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570523454	chr7:63904383-63904384	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs540753932	chr7:63904423-63904424	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs147055909	chr7:63904434-63904435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs189980175	chr7:63904460-63904461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs6460156	chr7:63904466-63904467	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563534298	chr7:63904497-63904498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs182142269	chr7:63904505-63904506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs566789449	chr7:63904511-63904512	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs549131216	chr7:63904516-63904517	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs62461482	chr7:63904604-63904605	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528618760	chr7:63904614-63904615	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs79225947	chr7:63904624-63904625	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs76581145	chr7:63904625-63904626	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs7795035	chr7:63904627-63904628	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs369440014	chr7:63904648-63904649	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs567923568	chr7:63904657-63904658	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs538035743	chr7:63904665-63904666	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs183058720	chr7:63904679-63904680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs545040053	chr7:63904693-63904694	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs188530491	chr7:63904707-63904708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs193132563	chr7:63904720-63904721	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs534757462	chr7:63904731-63904732	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs7795200	chr7:63904737-63904738	Inactive region	lncRNA	n/a	Overlapped CNVs	mRNA abundance
34	rs369229245	chr7:63904746-63904747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs386713911	chr7:63904747-63904748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs369545283	chr7:63904748-63904749	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs563456244	chr7:63904762-63904763	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs573905436	chr7:63904766-63904767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs375671830	chr7:63904770-63904771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs7799204	chr7:63904773-63904774	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs559538706	chr7:63904807-63904808	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs112621697	chr7:63904895-63904896	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs528268758	chr7:63904902-63904903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs573999513	chr7:63904914-63904915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs551471671	chr7:63904933-63904934	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs143950398	chr7:63904942-63904943	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs183147686	chr7:63905004-63905005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs188135908	chr7:63905005-63905006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs567537907	chr7:63905036-63905037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs570472004	chr7:63905061-63905062	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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