Variant report

Variant	nsv971591
Chromosome Location	chr8:50231027-50243826
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	CEBPB	chr8:50238966-50239185	IMR90	lung:	n/a	chr8:50239036-50239049 chr8:50239036-50239047 chr8:50239038-50239047 chr8:50239036-50239049 chr8:50239037-50239048
2	CEBPB	chr8:50238988-50239211	HepG2	liver:	n/a	chr8:50239036-50239049 chr8:50239036-50239047 chr8:50239038-50239047 chr8:50239036-50239049 chr8:50239037-50239048
3	CEBPB	chr8:50238971-50239225	A549	lung:	n/a	chr8:50239036-50239049 chr8:50239036-50239047 chr8:50239038-50239047 chr8:50239036-50239049 chr8:50239037-50239048
4	CEBPB	chr8:50241945-50242003	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:50232362-50232398	A549	lung:	n/a	n/a
6	EP300	chr8:50237590-50237597	GM12878	blood:	n/a	n/a
7	FOS	chr8:50239273-50239479	MCF10A-Er-Src	breast:	n/a	chr8:50239345-50239356 chr8:50239349-50239358
8	GATA3	chr8:50237435-50237635	SH-SY5Y	brain:	n/a	n/a
9	JUN	chr8:50234021-50234213	HepG2	liver:	n/a	chr8:50234131-50234144
10	JUND	chr8:50234015-50234283	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:50235573-50235687	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:50224322..50226256-chr8:50228266..50231187,2	K562	blood:
2	chr8:50223069..50226256-chr8:50227030..50231187,6	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-12	chr8:50243331-50243643	l_3592_chr8:50243194-50268365_ovary
2	lnc-C8orf22-10	chr8:50242769-50243106	NONHSAT126514
3	lnc-C8orf22-12	chr8:50243195-50243330	l_3592_chr8:50243194-50268365_ovary
4	lnc-C8orf22-12	chr8:50243796-50243921	l_3592_chr8:50243194-50268365_ovary

Variant related genes	Relation type
RN7SKP294	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535255315	chr8:50238977-50238978	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs553043547	chr8:50238980-50238981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs537412288	chr8:50238988-50238989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs143474771	chr8:50239017-50239018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs556947914	chr8:50239097-50239098	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs375230583	chr8:50239099-50239100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs575900788	chr8:50239187-50239188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs9643588	chr8:50239216-50239217	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181546515	chr8:50239273-50239274	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs9643589	chr8:50239306-50239307	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541267046	chr8:50239310-50239311	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs148004503	chr8:50239350-50239351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs377428565	chr8:50239371-50239372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs116438430	chr8:50239414-50239415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs186193106	chr8:50239433-50239434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs563296575	chr8:50239468-50239469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs569101776	chr8:50241969-50241970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371868327	chr8:50241972-50241973	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs145611083	chr8:50241988-50241989	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs187159085	chr8:50242782-50242783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs17722365	chr8:50242815-50242816	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs554534762	chr8:50242870-50242871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs564393242	chr8:50242872-50242873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs572663323	chr8:50242878-50242879	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs114608367	chr8:50242881-50242882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs558233738	chr8:50242901-50242902	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs35146618	chr8:50242924-50242925	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs576468095	chr8:50242966-50242967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs543762458	chr8:50242987-50242988	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs12548812	chr8:50242991-50242992	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs529314329	chr8:50243012-50243013	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs548523739	chr8:50243036-50243037	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs541705833	chr8:50243082-50243083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs545630689	chr8:50243088-50243089	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs560056306	chr8:50243090-50243091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs368772525	chr8:50243101-50243102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs13254483	chr8:50243196-50243197	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144960564	chr8:50243222-50243223	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs548102635	chr8:50243256-50243257	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs367993490	chr8:50243289-50243290	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs180795834	chr8:50243297-50243298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs539995567	chr8:50243319-50243320	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs373048132	chr8:50243390-50243391	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs558398533	chr8:50243419-50243420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs185172545	chr8:50243440-50243441	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs149050957	chr8:50243521-50243522	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs75461129	chr8:50243528-50243529	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	18451855	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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