Variant report

Variant	nsv512047
Chromosome Location	chr8:47742412-47750207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:62)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:62 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:47742552-47742702	GM12878	blood:	n/a	n/a
2	BATF	chr8:47742543-47742780	GM12878	blood:	n/a	n/a
3	BCL11A	chr8:47742558-47742696	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:47742493-47742715	GM12878	blood:	n/a	n/a
5	BHLHE40	chr8:47742538-47742866	HepG2	liver:	n/a	n/a
6	BHLHE40	chr8:47741998-47742438	HepG2	liver:	n/a	n/a
7	CEBPD	chr8:47742550-47742858	K562	blood:	n/a	n/a
8	EBF1	chr8:47742556-47742800	GM12878	blood:	n/a	n/a
9	EBF1	chr8:47742531-47742706	GM12878	blood:	n/a	n/a
10	EP300	chr8:47742529-47742820	GM12878	blood:	n/a	n/a
11	EP300	chr8:47742563-47742690	GM12878	blood:	n/a	n/a
12	FOSL2	chr8:47742026-47742906	HepG2	liver:	n/a	n/a
13	FOSL2	chr8:47742537-47742805	HepG2	liver:	n/a	n/a
14	FOXA1	chr8:47742514-47742733	HepG2	liver:	n/a	n/a
15	GABPA	chr8:47742519-47742798	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr8:47742570-47742676	Hela-S3	cervix:	n/a	n/a
17	GATA2	chr8:47742535-47742760	K562	blood:	n/a	n/a
18	HEY1	chr8:47742536-47742820	HepG2	liver:	n/a	n/a
19	HEY1	chr8:47742572-47742706	HepG2	liver:	n/a	n/a
20	HEY1	chr8:47742426-47742713	K562	blood:	n/a	n/a
21	IRF4	chr8:47742425-47742741	GM12878	blood:	n/a	n/a
22	JUND	chr8:47742560-47742695	HepG2	liver:	n/a	n/a
23	JUND	chr8:47742575-47742715	HepG2	liver:	n/a	n/a
24	PAX5	chr8:47742540-47742714	GM12878	blood:	n/a	n/a
25	PAX5	chr8:47742557-47742726	GM12878	blood:	n/a	n/a
26	PAX5	chr8:47742429-47742899	GM12878	blood:	n/a	n/a
27	PAX5	chr8:47742558-47742695	GM12878	blood:	n/a	n/a
28	PBX3	chr8:47742572-47742762	GM12878	blood:	n/a	n/a
29	PBX3	chr8:47742576-47742678	GM12878	blood:	n/a	n/a
30	POLR2A	chr8:47742561-47742691	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr8:47742531-47742790	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr8:47742477-47742839	H1-hESC	embryonic stem cell:	n/a	n/a
33	POU2F2	chr8:47742572-47742708	GM12878	blood:	n/a	n/a
34	POU2F2	chr8:47742526-47742869	GM12878	blood:	n/a	n/a
35	RXRA	chr8:47742494-47742757	HepG2	liver:	n/a	n/a
36	RXRA	chr8:47742428-47742848	GM12878	blood:	n/a	n/a
37	RXRA	chr8:47742488-47742788	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr8:47742556-47742699	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr8:47742549-47742673	HepG2	liver:	n/a	n/a
40	SIX5	chr8:47742144-47742725	GM12878	blood:	n/a	n/a
41	SIX5	chr8:47742533-47742715	K562	blood:	n/a	n/a
42	SIX5	chr8:47742509-47742810	K562	blood:	n/a	n/a
43	SP1	chr8:47742497-47742799	GM12878	blood:	n/a	chr8:47742522-47742532 chr8:47742522-47742532
44	SP1	chr8:47742496-47742872	GM12878	blood:	n/a	chr8:47742522-47742532 chr8:47742522-47742532
45	SP1	chr8:47742543-47742672	HepG2	liver:	n/a	n/a
46	SP1	chr8:47742474-47742841	HepG2	liver:	n/a	chr8:47742522-47742532 chr8:47742522-47742532
47	SPI1	chr8:47742574-47742726	GM12878	blood:	n/a	n/a
48	SPI1	chr8:47742554-47742817	GM12878	blood:	n/a	n/a
49	SPI1	chr8:47742530-47742779	K562	blood:	n/a	n/a
50	STAT3	chr8:47747770-47748086	MCF10A-Er-Src	breast:	n/a	chr8:47747812-47747826

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47748435-47748485	K562	blood:	n/a
2	chr8:47748435-47748485	HEEpiC	esophagus:	n/a
3	chr8:47748435-47748485	BE2_C	brain:	n/a
4	chr8:47748435-47748485	AG04449	skin:	fetal
5	chr8:47748435-47748485	PFSK-1	brain:	n/a
6	chr8:47748435-47748485	NHDF-neo	bronchial:	n/a
7	chr8:47748435-47748485	HCM	heart:	n/a
8	chr8:47748435-47748485	MCF-7	breast:	n/a
9	chr8:47748435-47748485	H1-hESC	embryonic stem cell:	embryo
10	chr8:47748435-47748485	AoSMC	blood vessel:	n/a
11	chr8:47748435-47748485	HAEpiC	amniotic membrane:	n/a
12	chr8:47748435-47748485	SKMC	muscle:	n/a
13	chr8:47748435-47748485	T-47D	breast:	n/a
14	chr8:47748435-47748485	HUVEC	blood vessel:	n/a
15	chr8:47748435-47748485	GM12892	blood:	n/a
16	chr8:47748435-47748485	HRE	kidney:	n/a
17	chr8:47748435-47748485	SAEC	small airway:	n/a
18	chr8:47748435-47748485	ovcar-3	ovarian:	n/a
19	chr8:47748435-47748485	NH-A	brain:	n/a
20	chr8:47748435-47748485	PANC-1	pancreas:	n/a
21	chr8:47748435-47748485	AG04450	lung:	fetal
22	chr8:47748435-47748485	HCF	heart:	n/a
23	chr8:47748435-47748485	Jurkat	blood:	n/a
24	chr8:47748435-47748485	ECC-1	luminal epithelium:	n/a
25	chr8:47748435-47748485	SK-N-MC	brain:	n/a
26	chr8:47748435-47748485	SK-N-SH	brain:	n/a
27	chr8:47748435-47748485	HPAEpiC	pulmonary alveolar:	n/a
28	chr8:47748435-47748485	HNPCEpiC	eye:	n/a
29	chr8:47748435-47748485	LNCaP	prostate:	n/a
30	chr8:47748435-47748485	A549	lung:	n/a
31	chr8:47748435-47748485	ProgFib	skin:	n/a
32	chr8:47748435-47748485	HRCEpiC	kidney:	n/a
33	chr8:47748435-47748485	RPTEC	kidney:	n/a
34	chr8:47748435-47748485	NB4	blood:	n/a
35	chr8:47748435-47748485	U87	brain:	n/a
36	chr8:47748435-47748485	HEK293	kidney:	embryo
37	chr8:47748435-47748485	SK-N-SH_RA	brain:	n/a
38	chr8:47748435-47748485	BJ	skin:	n/a
39	chr8:47748435-47748485	GM06990	blood:	n/a
40	chr8:47748435-47748485	Hela-S3	cervix:	n/a
41	chr8:47748435-47748485	AG09309	skin:	n/a
42	chr8:47748435-47748485	HepG2	liver:	n/a
43	chr8:47748435-47748485	Hepatocyte	liver:	n/a
44	chr8:47748435-47748485	HRPEpiC	eye:	n/a
45	chr8:47748435-47748485	AG09319	gingival:	n/a
46	chr8:47748435-47748485	IMR90	lung:	fetal
47	chr8:47748435-47748485	NHBE	bronchial:	n/a
48	chr8:47748435-47748485	HMEC	breast:	n/a
49	chr8:47748435-47748485	HCT-116	colon:	n/a
50	chr8:47748435-47748485	AG10803	skin:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-350F16.2.1-4	chr8:47749200-47750328	NONHSAT126416
2	lnc-RP11-1134I14.8.1-3	chr8:47748364-47748420	ENSG00000253314.1
3	lnc-RP11-1134I14.8.1-3	chr8:47748371-47748420	NONHSAT126415

No data

Variant related genes	Relation type
MTND6P20	TF binding region
LINC00293	TF binding region
RNU6-656P	TF binding region
MTND1P7	TF binding region
MTND6P20	CpG island
LINC00293	CpG island
RNU6-656P	CpG island
MTND1P7	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559835213	chr8:47742422-47742423	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs113601887	chr8:47742432-47742433	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs72642685	chr8:47742462-47742463	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs560139406	chr8:47742477-47742478	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs527629033	chr8:47742531-47742532	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs552142927	chr8:47742554-47742555	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs190888259	chr8:47742559-47742560	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs537927988	chr8:47742589-47742590	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs371279832	chr8:47742590-47742591	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs532030561	chr8:47742609-47742610	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs549835429	chr8:47742614-47742615	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs112749830	chr8:47742617-47742618	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs535627185	chr8:47742676-47742677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs145628202	chr8:47742677-47742678	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182644793	chr8:47742683-47742684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs540168416	chr8:47742692-47742693	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187273154	chr8:47742693-47742694	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs576877064	chr8:47742725-47742726	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs148918574	chr8:47742741-47742742	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374572597	chr8:47742750-47742751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs930945	chr8:47742751-47742752	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143651266	chr8:47742759-47742760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73574999	chr8:47742772-47742773	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560336675	chr8:47742792-47742793	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs930944	chr8:47742804-47742805	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545721331	chr8:47742809-47742810	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373690582	chr8:47742810-47742811	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs147679639	chr8:47742869-47742870	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531558048	chr8:47742905-47742906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs554272330	chr8:47747775-47747776	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs191419025	chr8:47747797-47747798	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs537804872	chr8:47747874-47747875	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs182384115	chr8:47747887-47747888	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs372499526	chr8:47747903-47747904	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs549561418	chr8:47747905-47747906	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs572108846	chr8:47747906-47747907	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs535208103	chr8:47747910-47747911	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs577349077	chr8:47747912-47747913	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs553530124	chr8:47747924-47747925	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs571881691	chr8:47747979-47747980	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs187059587	chr8:47747983-47747984	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs545278344	chr8:47748375-47748376	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564008061	chr8:47748381-47748382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs531151015	chr8:47748396-47748397	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs117837524	chr8:47748402-47748403	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs187696744	chr8:47748411-47748412	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs567747494	chr8:47748417-47748418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs577818570	chr8:47748441-47748442	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
49	rs547048354	chr8:47748446-47748447	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
50	rs372401377	chr8:47748459-47748460	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Tetralogy of Fallot	22912587	CNVD

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

No data

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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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