Variant report

Variant	nsv890885
Chromosome Location	chr8:51755350-51946827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:51934062-51934395	GM12878	blood:	n/a	n/a
2	BACH1	chr8:51760452-51760813	K562	blood:	n/a	n/a
3	BACH1	chr8:51760453-51760811	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr8:51934082-51934330	GM12878	blood:	n/a	chr8:51934250-51934261
5	BATF	chr8:51934115-51934341	GM12878	blood:	n/a	chr8:51934250-51934261
6	BCL11A	chr8:51934103-51934327	GM12878	blood:	n/a	n/a
7	BRCA1	chr8:51771806-51771914	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr8:51943318-51943587	IMR90	lung:	n/a	n/a
9	CEBPB	chr8:51853745-51854060	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr8:51774506-51774533	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr8:51853747-51854039	IMR90	lung:	n/a	n/a
12	CEBPB	chr8:51853777-51854033	A549	lung:	n/a	n/a
13	CEBPB	chr8:51943286-51943588	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:51815008-51815301	Hela-S3	cervix:	n/a	chr8:51815099-51815110
15	CEBPB	chr8:51767482-51767716	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr8:51815003-51815238	HepG2	liver:	n/a	chr8:51815099-51815110
17	CTCF	chr8:51787374-51787445	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr8:51913389-51913420	GM10266	blood:	n/a	n/a
19	CTCF	chr8:51789523-51789562	GM10266	blood:	n/a	n/a
20	CTCF	chr8:51810682-51810839	MCF-7	breast:	n/a	n/a
21	CTCF	chr8:51775784-51775892	MCF-7	breast:	n/a	n/a
22	CTCF	chr8:51810691-51810820	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:51885340-51885490	Caco-2	colon:	n/a	n/a
24	CTCF	chr8:51856872-51856953	LNCaP	prostate:	n/a	n/a
25	CTCF	chr8:51775770-51775888	MCF-7	breast:	n/a	n/a
26	CTCF	chr8:51856980-51857130	MCF-7	breast:	n/a	n/a
27	CTCF	chr8:51810686-51810812	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:51810680-51810830	HPF	lung:	n/a	n/a
29	CTCF	chr8:51865763-51865828	GM10266	blood:	n/a	n/a
30	CTCF	chr8:51856671-51856989	T-47D	breast:	n/a	n/a
31	CTCF	chr8:51810620-51810770	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr8:51801274-51801352	GM13976	blood:	n/a	n/a
33	CTCF	chr8:51775680-51775830	GM12871	blood:	n/a	n/a
34	CTCF	chr8:51775799-51775889	MCF-7	breast:	n/a	n/a
35	CTCF	chr8:51797620-51797770	HepG2	liver:	n/a	n/a
36	CTCF	chr8:51810696-51810845	MCF-7	breast:	n/a	n/a
37	CTCF	chr8:51761980-51762130	GM12868	blood:	n/a	n/a
38	CTCF	chr8:51775836-51775845	MCF-7	breast:	n/a	n/a
39	CTCF	chr8:51901176-51901215	GM20000	blood:	n/a	n/a
40	CTCF	chr8:51786680-51786830	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr8:51810680-51810850	MCF-7	breast:	n/a	n/a
42	CTCF	chr8:51832477-51832604	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr8:51799400-51799550	NHDF-neo	bronchial:	n/a	n/a
44	CTCF	chr8:51775761-51775894	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr8:51810500-51810650	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr8:51856871-51856889	MCF-7	breast:	n/a	n/a
47	CTCF	chr8:51860171-51860176	LNCaP	prostate:	n/a	n/a
48	CTCF	chr8:51810660-51810810	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:51810720-51810870	HPF	lung:	n/a	n/a
50	CTCF	chr8:51791300-51791450	GM12868	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
ENSG00000201316	TF binding region
ENSG00000253340	chromatin interactions

Extended variants
information (count: 1524 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1524 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1385049	chr8:51755350-51755351	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146553732	chr8:51755386-51755387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560764446	chr8:51755416-51755417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575599739	chr8:51755417-51755418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542951404	chr8:51755458-51755459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372135598	chr8:51755627-51755628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186519138	chr8:51755673-51755674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11987999	chr8:51755689-51755690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547185486	chr8:51755791-51755792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542835043	chr8:51755830-51755831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532580183	chr8:51755977-51755978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565493496	chr8:51755978-51755979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189774173	chr8:51756000-51756001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532201061	chr8:51756031-51756032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572220466	chr8:51756054-51756055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550695696	chr8:51756055-51756056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182672201	chr8:51756056-51756057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141184985	chr8:51756058-51756059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566785821	chr8:51756077-51756078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563029904	chr8:51756145-51756146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186039323	chr8:51756149-51756150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191235700	chr8:51756166-51756167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531736516	chr8:51756207-51756208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570322126	chr8:51756263-51756264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538700795	chr8:51756284-51756285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532417321	chr8:51756291-51756292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557082844	chr8:51756295-51756296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4873479	chr8:51756374-51756375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183040300	chr8:51756383-51756384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554685767	chr8:51756398-51756399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4873480	chr8:51756410-51756411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554737671	chr8:51756448-51756449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187342578	chr8:51756451-51756452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546529040	chr8:51756477-51756478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150222225	chr8:51756488-51756489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532800721	chr8:51756537-51756538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544315027	chr8:51756583-51756584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75951677	chr8:51756623-51756624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145738261	chr8:51756662-51756663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548142019	chr8:51756671-51756672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566362074	chr8:51756681-51756682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548394756	chr8:51756707-51756708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192290362	chr8:51756724-51756725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148994039	chr8:51756780-51756781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551907399	chr8:51756817-51756818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76036427	chr8:51756838-51756839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34517952	chr8:51756905-51756906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537692526	chr8:51756914-51756915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369694304	chr8:51756936-51756937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557161562	chr8:51756986-51756987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51752600-51756000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:51753600-51755800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:51754400-51755600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:51755200-51756200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:51755200-51757800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:51755600-51756000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr8:51755600-51757000	Enhancers	Fetal Intestine Large	intestine
8	chr8:51755800-51756200	Enhancers	Fetal Intestine Small	intestine
9	chr8:51755800-51757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:51756200-51757000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:51757800-51758000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr8:51757800-51758000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:51763600-51767000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:51767000-51767200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:51767000-51768800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:51767200-51768000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr8:51767400-51768200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr8:51767400-51768600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:51767800-51768200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr8:51768000-51768400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr8:51768000-51768600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:51768200-51768600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:51773200-51773600	Enhancers	Fetal Lung	lung
24	chr8:51773600-51777200	Weak transcription	Fetal Lung	lung
25	chr8:51775400-51776200	Enhancers	Brain Germinal Matrix	brain
26	chr8:51775800-51776000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:51777200-51777400	Enhancers	Fetal Lung	lung
28	chr8:51780400-51781600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:51793600-51794200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:51798000-51800000	Enhancers	Dnd41	blood
31	chr8:51798400-51799400	Enhancers	Brain Germinal Matrix	brain
32	chr8:51798400-51800000	Enhancers	Fetal Muscle Leg	muscle
33	chr8:51798600-51798800	Enhancers	Fetal Lung	lung
34	chr8:51798600-51799800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:51798600-51799800	Enhancers	Fetal Brain Female	brain
36	chr8:51798800-51799200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr8:51798800-51799200	Flanking Active TSS	Fetal Lung	lung
38	chr8:51798800-51799400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:51798800-51799600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr8:51798800-51799800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:51798800-51800000	Enhancers	Fetal Brain Male	brain
42	chr8:51798800-51800000	Enhancers	Fetal Stomach	stomach
43	chr8:51799000-51799200	Enhancers	Brain Substantia Nigra	brain
44	chr8:51799000-51799400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:51799000-51799600	Active TSS	Fetal Muscle Trunk	muscle
46	chr8:51799200-51799400	Active TSS	Brain Cingulate Gyrus	brain
47	chr8:51799200-51799600	Enhancers	Brain Angular Gyrus	brain
48	chr8:51799200-51799600	Enhancers	Brain Anterior Caudate	brain
49	chr8:51799200-51799600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:51799200-51799600	Flanking Active TSS	Brain Substantia Nigra	brain

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