Variant report

Variant	nsv1027258
Chromosome Location	chr8:51760429-51887857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:176)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:176 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:51760452-51760813	K562	blood:	n/a	n/a
2	BACH1	chr8:51760453-51760811	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr8:51771806-51771914	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
5	CEBPB	chr8:51767482-51767716	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:51774506-51774533	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr8:51815003-51815238	HepG2	liver:	n/a	chr8:51815099-51815110
10	CEBPB	chr8:51815008-51815301	Hela-S3	cervix:	n/a	chr8:51815099-51815110
11	CTCF	chr8:51810620-51810770	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr8:51799400-51799550	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr8:51801274-51801352	GM13976	blood:	n/a	n/a
14	CTCF	chr8:51885340-51885490	Caco-2	colon:	n/a	n/a
15	CTCF	chr8:51810680-51810850	MCF-7	breast:	n/a	n/a
16	CTCF	chr8:51775761-51775894	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
18	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
19	CTCF	chr8:51810720-51810870	Caco-2	colon:	n/a	n/a
20	CTCF	chr8:51764400-51764550	GM12869	blood:	n/a	n/a
21	CTCF	chr8:51810660-51810810	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:51797620-51797770	HepG2	liver:	n/a	n/a
23	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
24	CTCF	chr8:51775770-51775888	MCF-7	breast:	n/a	n/a
25	CTCF	chr8:51789523-51789562	GM10266	blood:	n/a	n/a
26	CTCF	chr8:51775784-51775892	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:51810680-51810830	HPF	lung:	n/a	n/a
28	CTCF	chr8:51810720-51810870	HPF	lung:	n/a	n/a
29	CTCF	chr8:51865763-51865828	GM10266	blood:	n/a	n/a
30	CTCF	chr8:51810500-51810650	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr8:51810682-51810839	MCF-7	breast:	n/a	n/a
32	CTCF	chr8:51810691-51810820	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:51775799-51775889	MCF-7	breast:	n/a	n/a
34	CTCF	chr8:51761980-51762130	GM12868	blood:	n/a	n/a
35	CTCF	chr8:51810696-51810845	MCF-7	breast:	n/a	n/a
36	CTCF	chr8:51775680-51775830	GM12871	blood:	n/a	n/a
37	CTCF	chr8:51775836-51775845	MCF-7	breast:	n/a	n/a
38	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr8:51787374-51787445	Spleen_OC	spleen:	n/a	n/a
40	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
41	CTCF	chr8:51786680-51786830	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr8:51791300-51791450	GM12868	blood:	n/a	n/a
43	CTCF	chr8:51810686-51810812	MCF-7	breast:	n/a	n/a
44	CTCF	chr8:51860171-51860176	LNCaP	prostate:	n/a	n/a
45	E2F4	chr8:51808436-51808664	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr8:51781165-51781190	MCF10A-Er-Src	breast:	n/a	n/a
47	E2F4	chr8:51842582-51842805	MCF10A-Er-Src	breast:	n/a	n/a
48	EP300	chr8:51799151-51799511	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr8:51799071-51799741	SK-N-SH_RA	brain:	n/a	n/a
50	FAM48A	chr8:51834461-51834598	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
2	chr8:51854395..51855974-chr8:51858657..51860193,2	K562	blood:
3	chr8:51767065..51768781-chr8:51770684..51773527,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNTG1-2	chr8:51772090-51772622	NONHSAT126530

No data

Variant related genes	Relation type
ENSG00000253340	TF binding region
ENSG00000253340	chromatin interactions

Extended variants
information (count: 1313 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1313 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148498545	chr8:51763654-51763655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559034837	chr8:51763684-51763685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79681339	chr8:51763709-51763710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376102243	chr8:51763726-51763727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538090451	chr8:51763733-51763734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556731947	chr8:51763754-51763755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574166159	chr8:51763777-51763778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369267911	chr8:51763783-51763784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184355825	chr8:51763799-51763800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190019366	chr8:51763800-51763801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565852199	chr8:51763808-51763809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182353933	chr8:51763909-51763910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545686739	chr8:51763934-51763935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531652894	chr8:51763939-51763940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542115583	chr8:51763961-51763962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185744868	chr8:51763983-51763984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59132524	chr8:51763990-51763991	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72647144	chr8:51763996-51763997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530178793	chr8:51764015-51764016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6985021	chr8:51764041-51764042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs189373265	chr8:51764053-51764054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527715276	chr8:51764081-51764082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73572285	chr8:51764094-51764095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571021704	chr8:51764115-51764116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538551986	chr8:51764118-51764119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142875147	chr8:51764124-51764125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374306025	chr8:51764125-51764126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56390051	chr8:51764165-51764166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs147681036	chr8:51764217-51764218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371012779	chr8:51764249-51764250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562374803	chr8:51764255-51764256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs900773	chr8:51764285-51764286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545512513	chr8:51764301-51764302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557759971	chr8:51764362-51764363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367658068	chr8:51764366-51764367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371842354	chr8:51764411-51764412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541739310	chr8:51764457-51764458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543711838	chr8:51764464-51764465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561725840	chr8:51764467-51764468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550367680	chr8:51764497-51764498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs744204	chr8:51764510-51764511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs368017637	chr8:51764575-51764576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542321735	chr8:51764580-51764581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180969119	chr8:51764595-51764596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75319863	chr8:51764606-51764607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144813292	chr8:51764615-51764616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113986981	chr8:51764625-51764626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570826522	chr8:51764655-51764656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531869099	chr8:51764718-51764719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550489062	chr8:51764769-51764770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
Lung cancer	18438408	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
Ovarian cancer	22174824	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
22q11 deletion syndrome	20357662	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51763600-51767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:51767000-51767200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:51767000-51768800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr8:51767200-51768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:51767400-51768200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:51767400-51768600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:51767800-51768200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:51768000-51768400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr8:51768000-51768600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:51768200-51768600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:51773200-51773600	Enhancers	Fetal Lung	lung
12	chr8:51773600-51777200	Weak transcription	Fetal Lung	lung
13	chr8:51775400-51776200	Enhancers	Brain Germinal Matrix	brain
14	chr8:51775800-51776000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:51777200-51777400	Enhancers	Fetal Lung	lung
16	chr8:51780400-51781600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:51793600-51794200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:51798000-51800000	Enhancers	Dnd41	blood
19	chr8:51798400-51799400	Enhancers	Brain Germinal Matrix	brain
20	chr8:51798400-51800000	Enhancers	Fetal Muscle Leg	muscle
21	chr8:51798600-51798800	Enhancers	Fetal Lung	lung
22	chr8:51798600-51799800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:51798600-51799800	Enhancers	Fetal Brain Female	brain
24	chr8:51798800-51799200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr8:51798800-51799200	Flanking Active TSS	Fetal Lung	lung
26	chr8:51798800-51799400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:51798800-51799600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr8:51798800-51799800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:51798800-51800000	Enhancers	Fetal Brain Male	brain
30	chr8:51798800-51800000	Enhancers	Fetal Stomach	stomach
31	chr8:51799000-51799200	Enhancers	Brain Substantia Nigra	brain
32	chr8:51799000-51799400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:51799000-51799600	Active TSS	Fetal Muscle Trunk	muscle
34	chr8:51799200-51799400	Active TSS	Brain Cingulate Gyrus	brain
35	chr8:51799200-51799600	Enhancers	Brain Angular Gyrus	brain
36	chr8:51799200-51799600	Enhancers	Brain Anterior Caudate	brain
37	chr8:51799200-51799600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:51799200-51799600	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr8:51799200-51799600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr8:51799200-51799600	Active TSS	Fetal Lung	lung
41	chr8:51799200-51799800	Enhancers	Adipose Nuclei	Adipose
42	chr8:51799200-51799800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:51799400-51799800	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr8:51799400-51799800	Flanking Active TSS	Brain Germinal Matrix	brain
45	chr8:51799600-51799800	Enhancers	Brain Substantia Nigra	brain
46	chr8:51799600-51799800	Enhancers	Fetal Lung	lung
47	chr8:51807200-51808000	Enhancers	Fetal Brain Male	brain
48	chr8:51807600-51810600	Weak transcription	Fetal Lung	lung
49	chr8:51810400-51810800	ZNF genes & repeats	Pancreas	Pancrea
50	chr8:51810600-51811000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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