Variant report

Variant	nsv1015812
Chromosome Location	chr8:47546083-47743250
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	ATF1	chr8:47551373-47551428	K562	blood:	n/a	n/a
2	ATF1	chr8:47548283-47548344	K562	blood:	n/a	n/a
3	BATF	chr8:47738438-47738681	GM12878	blood:	n/a	chr8:47738534-47738545
4	BATF	chr8:47741055-47741204	GM12878	blood:	n/a	n/a
5	BATF	chr8:47742552-47742702	GM12878	blood:	n/a	n/a
6	BATF	chr8:47742166-47742315	GM12878	blood:	n/a	n/a
7	BATF	chr8:47742058-47742352	GM12878	blood:	n/a	n/a
8	BATF	chr8:47742543-47742780	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:47742173-47742308	GM12878	blood:	n/a	n/a
10	BCL11A	chr8:47741045-47741214	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:47741063-47741196	GM12878	blood:	n/a	n/a
12	BCL11A	chr8:47742011-47742327	GM12878	blood:	n/a	n/a
13	BCL11A	chr8:47742493-47742715	GM12878	blood:	n/a	n/a
14	BCL11A	chr8:47742558-47742696	GM12878	blood:	n/a	n/a
15	BHLHE40	chr8:47570504-47570636	K562	blood:	n/a	n/a
16	BHLHE40	chr8:47741998-47742438	HepG2	liver:	n/a	n/a
17	BHLHE40	chr8:47741043-47741216	HepG2	liver:	n/a	n/a
18	BHLHE40	chr8:47742538-47742866	HepG2	liver:	n/a	n/a
19	CEBPB	chr8:47730645-47730867	HepG2	liver:	n/a	n/a
20	CEBPB	chr8:47546616-47546808	K562	blood:	n/a	chr8:47546682-47546693
21	CEBPB	chr8:47557998-47558160	K562	blood:	n/a	chr8:47558092-47558103
22	CEBPB	chr8:47557878-47558315	MCF-7	breast:	n/a	chr8:47558092-47558103
23	CEBPB	chr8:47546527-47547003	IMR90	lung:	n/a	chr8:47546682-47546693
24	CEBPB	chr8:47733822-47733874	HepG2	liver:	n/a	n/a
25	CEBPB	chr8:47552473-47553612	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:47587262-47587581	IMR90	lung:	n/a	n/a
27	CEBPB	chr8:47646735-47647020	MCF-7	breast:	n/a	chr8:47646871-47646882
28	CEBPB	chr8:47565469-47565705	HepG2	liver:	n/a	chr8:47565589-47565600
29	CEBPB	chr8:47610006-47610207	IMR90	lung:	n/a	chr8:47610104-47610115
30	CEBPB	chr8:47726154-47726589	A549	lung:	n/a	n/a
31	CEBPB	chr8:47547969-47548257	HepG2	liver:	n/a	n/a
32	CEBPB	chr8:47549385-47550207	A549	lung:	n/a	n/a
33	CEBPB	chr8:47554881-47555207	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr8:47549465-47550234	IMR90	lung:	n/a	n/a
35	CEBPB	chr8:47579903-47580243	HepG2	liver:	n/a	n/a
36	CEBPB	chr8:47737694-47737724	HepG2	liver:	n/a	n/a
37	CEBPB	chr8:47732177-47732382	H1-hESC	embryonic stem cell:	n/a	chr8:47732251-47732262
38	CEBPB	chr8:47554880-47555156	HepG2	liver:	n/a	n/a
39	CEBPB	chr8:47549388-47550184	HepG2	liver:	n/a	n/a
40	CEBPB	chr8:47730627-47730869	A549	lung:	n/a	n/a
41	CEBPB	chr8:47731371-47731837	HepG2	liver:	n/a	n/a
42	CEBPB	chr8:47570103-47570239	HepG2	liver:	n/a	chr8:47570181-47570192
43	CEBPB	chr8:47554849-47555188	MCF-7	breast:	n/a	n/a
44	CEBPB	chr8:47565561-47565644	A549	lung:	n/a	chr8:47565589-47565600
45	CEBPB	chr8:47678041-47678282	HepG2	liver:	n/a	chr8:47678131-47678142
46	CEBPB	chr8:47678009-47678239	A549	lung:	n/a	chr8:47678131-47678142
47	CEBPB	chr8:47560585-47560829	HepG2	liver:	n/a	n/a
48	CEBPB	chr8:47662869-47663109	A549	lung:	n/a	chr8:47662934-47662945
49	CEBPB	chr8:47678002-47678303	IMR90	lung:	n/a	chr8:47678131-47678142
50	CEBPB	chr8:47562442-47562621	K562	blood:	n/a	chr8:47562536-47562547

No.	Distal block	Cell Line	Cell type
1	chr8:47618307..47619237-chr8:47916938..47917469,2	MCF-7	breast:
2	chr8:47619331..47620431-chr8:47868217..47869326,4	MCF-7	breast:
3	chr8:47618289..47619061-chr8:47868266..47869014,2	MCF-7	breast:
4	chr8:47484279..47485112-chr8:47579488..47580411,3	MCF-7	breast:
5	chr8:47619682..47620259-chr8:47831736..47832439,2	MCF-7	breast:
6	chr8:47619541..47620262-chr8:47868295..47869178,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-3	chr8:47733859-47734050	ENSG00000253314.1
2	lnc-LINC00293-2	chr8:47704231-47704686	NONHSAT126410
3	lnc-RP11-350F16.2.1-2	chr8:47722340-47723308	XLOC_007078
4	lnc-RP11-350F16.2.1-5	chr8:47738850-47740031	NONHSAT126413
5	lnc-LINC00293-2	chr8:47703687-47703942	NONHSAT126410
6	lnc-RP11-350F16.2.1-2	chr8:47730635-47730705	XLOC_007078

Variant related genes	Relation type
ENSG00000254070	TF binding region
MTND1P7	TF binding region
ENSG00000228984	TF binding region
TRIM60P15	TF binding region
LINC00293	TF binding region
RNU6-656P	TF binding region
ASNSP4	TF binding region
USO1	miRNA target sites
PPARGC1A	miRNA target sites

Extended variants
information (count: 2152 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2152 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533920785	chr8:47547437-47547438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574290932	chr8:47547458-47547459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138660810	chr8:47547463-47547464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78890361	chr8:47547490-47547491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367919571	chr8:47547528-47547529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542467108	chr8:47547533-47547534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554597059	chr8:47547547-47547548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559893948	chr8:47547619-47547620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575794980	chr8:47547639-47547640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545107220	chr8:47547652-47547653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141173301	chr8:47547693-47547694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527313848	chr8:47547733-47547734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73572803	chr8:47547743-47547744	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150318802	chr8:47547744-47547745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180997646	chr8:47547801-47547802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529618864	chr8:47547803-47547804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs386725019	chr8:47547812-47547813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187167335	chr8:47547814-47547815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531783565	chr8:47547825-47547826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192094586	chr8:47547838-47547839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571635700	chr8:47547858-47547859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149502308	chr8:47547863-47547864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553751419	chr8:47547872-47547873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567281587	chr8:47547919-47547920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116430612	chr8:47547937-47547938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541103216	chr8:47547946-47547947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117364137	chr8:47547963-47547964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575857937	chr8:47547969-47547970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532732922	chr8:47547980-47547981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544859213	chr8:47547982-47547983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553982008	chr8:47548061-47548062	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182154612	chr8:47548148-47548149	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186828637	chr8:47548158-47548159	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541076378	chr8:47548180-47548181	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371752003	chr8:47548190-47548191	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs146003744	chr8:47548196-47548197	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139950074	chr8:47548269-47548270	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74543047	chr8:47548299-47548300	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373659441	chr8:47548391-47548392	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563154520	chr8:47548399-47548400	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531968359	chr8:47548433-47548434	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369009583	chr8:47548461-47548462	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549675405	chr8:47548483-47548484	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190711027	chr8:47548519-47548520	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs527791905	chr8:47548629-47548630	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182627934	chr8:47548634-47548635	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187327561	chr8:47548656-47548657	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567341430	chr8:47548695-47548696	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557696789	chr8:47548711-47548712	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536221074	chr8:47548729-47548730	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Oral cancer	21386901	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
Acute myeloid leukemia	21251322	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:47547400-47549400	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr8:47547400-47549600	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr8:47548000-47549200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:47549400-47554800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:47549600-47555000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:47554800-47555600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:47555000-47556600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:47555600-47560600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:47556600-47560600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:47560600-47564400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:47560600-47564400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr8:47567200-47567600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr8:47578800-47579200	Active TSS	Fetal Heart	heart
14	chr8:47596600-47596800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:47596800-47597800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:47597800-47598400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:47619600-47620600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:47658600-47658800	ZNF genes & repeats	Aorta	Aorta
19	chr8:47658800-47662200	Weak transcription	Aorta	Aorta
20	chr8:47662200-47662400	ZNF genes & repeats	Aorta	Aorta
21	chr8:47669200-47669800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:47676600-47678000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr8:47683600-47684200	Active TSS	Fetal Heart	heart
24	chr8:47690800-47693200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr8:47692200-47692400	ZNF genes & repeats	Fetal Brain Female	brain
26	chr8:47692800-47693000	Active TSS	Fetal Heart	heart
27	chr8:47693000-47695600	Weak transcription	Fetal Heart	heart
28	chr8:47695600-47696000	Active TSS	Fetal Heart	heart
29	chr8:47695600-47696200	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr8:47695800-47696800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:47696200-47697400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:47696600-47697400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr8:47698400-47699200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:47698600-47699000	Weak transcription	Fetal Heart	heart
35	chr8:47698800-47700800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:47698800-47700800	ZNF genes & repeats	Adipose Nuclei	Adipose
37	chr8:47699000-47699800	Active TSS	Fetal Heart	heart
38	chr8:47699200-47701600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:47699400-47700400	ZNF genes & repeats	Lung	lung
40	chr8:47709000-47709400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:47709000-47709400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr8:47733800-47736400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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