Variant report

Variant	nsv981876
Chromosome Location	chr8:58153412-58174408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:550)
Chromatin interactive
region (count:6)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:58164849-58165716	GM12878	blood:	n/a	n/a
2	ATF2	chr8:58163182-58163690	GM12878	blood:	n/a	n/a
3	BATF	chr8:58156891-58157182	GM12878	blood:	n/a	chr8:58157088-58157098 chr8:58156907-58156915
4	BATF	chr8:58156932-58157184	GM12878	blood:	n/a	chr8:58157088-58157098
5	BATF	chr8:58163305-58163642	GM12878	blood:	n/a	n/a
6	BATF	chr8:58163276-58163662	GM12878	blood:	n/a	n/a
7	BATF	chr8:58164916-58165854	GM12878	blood:	n/a	n/a
8	BCL3	chr8:58161874-58162566	GM12878	blood:	n/a	n/a
9	BCL3	chr8:58161749-58162514	GM12878	blood:	n/a	n/a
10	BCLAF1	chr8:58164899-58165684	GM12878	blood:	n/a	chr8:58165328-58165337
11	BHLHE40	chr8:58159213-58159482	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:58163280-58163709	GM12878	blood:	n/a	n/a
13	BHLHE40	chr8:58162469-58162481	K562	blood:	n/a	n/a
14	BHLHE40	chr8:58164961-58165519	GM12878	blood:	n/a	n/a
15	BRCA1	chr8:58162132-58162328	GM12878	blood:	n/a	n/a
16	CEBPB	chr8:58165134-58165414	GM12878	blood:	n/a	n/a
17	CHD2	chr8:58163243-58163740	GM12878	blood:	n/a	n/a
18	CHD2	chr8:58164921-58165529	GM12878	blood:	n/a	n/a
19	CHD2	chr8:58162895-58162911	GM12878	blood:	n/a	n/a
20	CHD2	chr8:58159189-58159443	GM12878	blood:	n/a	n/a
21	CHD2	chr8:58157773-58157782	GM12878	blood:	n/a	n/a
22	CTCF	chr8:58169715-58169750	Lung_OC	lung:	n/a	n/a
23	CTCF	chr8:58161892-58161923	LNCaP	prostate:	n/a	n/a
24	CTCF	chr8:58165154-58165258	GM19239	blood:	n/a	n/a
25	CUX1	chr8:58165096-58165570	GM12878	blood:	n/a	n/a
26	CUX1	chr8:58159207-58159405	GM12878	blood:	n/a	n/a
27	EBF1	chr8:58159142-58159336	GM12878	blood:	n/a	n/a
28	EBF1	chr8:58165244-58165518	GM12878	blood:	n/a	n/a
29	EBF1	chr8:58164750-58165821	GM12878	blood:	n/a	n/a
30	EBF1	chr8:58163207-58163755	GM12878	blood:	n/a	n/a
31	EBF1	chr8:58165218-58165885	GM12878	blood:	n/a	n/a
32	ELK1	chr8:58165108-58165546	GM12878	blood:	n/a	n/a
33	EP300	chr8:58163245-58163715	GM12878	blood:	n/a	chr8:58163378-58163388
34	EP300	chr8:58164971-58165642	GM12878	blood:	n/a	n/a
35	EP300	chr8:58159054-58159548	GM12878	blood:	n/a	n/a
36	EP300	chr8:58163232-58163873	GM12878	blood:	n/a	chr8:58163378-58163388
37	EP300	chr8:58162093-58162493	GM12878	blood:	n/a	n/a
38	EP300	chr8:58157984-58157999	GM12878	blood:	n/a	n/a
39	EP300	chr8:58163153-58163622	GM12878	blood:	n/a	chr8:58163378-58163388
40	EP300	chr8:58161025-58161050	GM12878	blood:	n/a	n/a
41	EP300	chr8:58159053-58159520	GM12878	blood:	n/a	n/a
42	EP300	chr8:58164996-58165814	GM12878	blood:	n/a	n/a
43	EP300	chr8:58165096-58165517	GM12878	blood:	n/a	n/a
44	EP300	chr8:58162755-58162911	GM12878	blood:	n/a	n/a
45	FOXM1	chr8:58163205-58163724	GM12878	blood:	n/a	n/a
46	IKZF1	chr8:58159152-58159249	GM12878	blood:	n/a	n/a
47	IKZF1	chr8:58158350-58158507	GM12878	blood:	n/a	n/a
48	IRF4	chr8:58164940-58165698	GM12878	blood:	n/a	n/a
49	IRF4	chr8:58163249-58163645	GM12878	blood:	n/a	n/a
50	MAX	chr8:58159276-58159277	GM12878	blood:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:58168222-58168272	HPAEpiC	pulmonary alveolar:	n/a
2	chr8:58168222-58168272	HPAEpiC	pulmonary alveolar:	n/a
3	chr8:58170951-58171001	LNCaP	prostate:	n/a
4	chr8:58168222-58168272	NHBE	bronchial:	n/a
5	chr8:58168803-58168853	AoSMC	blood vessel:	n/a
6	chr8:58172571-58172621	MCF10A-Er-Src	breast:	n/a
7	chr8:58172571-58172621	ovcar-3	ovarian:	n/a
8	chr8:58168222-58168272	AG09309	skin:	n/a
9	chr8:58171766-58171816	HRCEpiC	kidney:	n/a
10	chr8:58173162-58173212	IMR90	lung:	fetal
11	chr8:58170951-58171001	SAEC	small airway:	n/a
12	chr8:58173162-58173212	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:58172855-58172905	HRCEpiC	kidney:	n/a
14	chr8:58168803-58168853	AG09309	skin:	n/a
15	chr8:58172571-58172621	HRPEpiC	eye:	n/a
16	chr8:58170951-58171001	GM19239	blood:	n/a
17	chr8:58173162-58173212	ovcar-3	ovarian:	n/a
18	chr8:58171766-58171816	GM12878	blood:	n/a
19	chr8:58172643-58172693	HCPEpiC	choroid plexus:	n/a
20	chr8:58173162-58173212	HUVEC	blood vessel:	n/a
21	chr8:58173162-58173212	MCF-7	breast:	n/a
22	chr8:58173601-58173651	NH-A	brain:	n/a
23	chr8:58168222-58168272	PFSK-1	brain:	n/a
24	chr8:58170951-58171001	A549	lung:	n/a
25	chr8:58173162-58173212	AG04449	skin:	fetal
26	chr8:58173601-58173651	SK-N-MC	brain:	n/a
27	chr8:58172643-58172693	NHDF-neo	bronchial:	n/a
28	chr8:58170951-58171001	U87	brain:	n/a
29	chr8:58173601-58173651	GM12878	blood:	n/a
30	chr8:58173162-58173212	AG10803	skin:	n/a
31	chr8:58168803-58168853	GM12891	blood:	n/a
32	chr8:58173601-58173651	RPTEC	kidney:	n/a
33	chr8:58168803-58168853	A549	lung:	n/a
34	chr8:58173601-58173651	GM06990	blood:	n/a
35	chr8:58168222-58168272	HCT-116	colon:	n/a
36	chr8:58173601-58173651	BJ	skin:	n/a
37	chr8:58172855-58172905	SK-N-SH	brain:	n/a
38	chr8:58173162-58173212	HRE	kidney:	n/a
39	chr8:58172643-58172693	ovcar-3	ovarian:	n/a
40	chr8:58172571-58172621	HCM	heart:	n/a
41	chr8:58172571-58172621	NT2-D1	testis:	n/a
42	chr8:58172571-58172621	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:58172855-58172905	HIPEpiC	eye:	n/a
44	chr8:58173601-58173651	H1-hESC	embryonic stem cell:	embryo
45	chr8:58171766-58171816	SAEC	small airway:	n/a
46	chr8:58171766-58171816	Jurkat	blood:	n/a
47	chr8:58171766-58171816	SK-N-SH	brain:	n/a
48	chr8:58173601-58173651	SAEC	small airway:	n/a
49	chr8:58173601-58173651	HPAEpiC	pulmonary alveolar:	n/a
50	chr8:58172643-58172693	AoSMC	blood vessel:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:58155473..58158296-chr8:58162081..58163594,2	K562	blood:
2	chr8:58157176..58158882-chr8:58160639..58162485,2	K562	blood:
3	chr8:58157176..58158882-chr8:58160639..58162485,2	K562	blood:
4	chr8:58145565..58149221-chr8:58153371..58158136,4	K562	blood:
5	chr8:58145565..58148679-chr8:58153371..58155909,3	K562	blood:
6	chr8:58155473..58158296-chr8:58162081..58163594,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-13	chr8:58153517-58153779	NONHSAT126745
2	lnc-FAM110B-7	chr8:58174093-58175676	ENSG00000253614
3	lnc-FAM110B-7	chr8:58173785-58173898	ENSG00000253614
4	lnc-FAM110B-13	chr8:58156865-58157483	NONHSAT126745
5	lnc-FAM110B-7	chr8:58174093-58175676	NR_038874
6	lnc-FAM110B-7	chr8:58173785-58173898	NR_038874

No data

Variant related genes	Relation type
ENSG00000253614	TF binding region
ENSG00000253614	CpG island

Extended variants
information (count: 640 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:640 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552001078	chr8:58153465-58153466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571900102	chr8:58153487-58153488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537130394	chr8:58153513-58153514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550662922	chr8:58153518-58153519	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs567378952	chr8:58153526-58153527	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs114313892	chr8:58153584-58153585	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs530882214	chr8:58153588-58153589	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs573049048	chr8:58153676-58153677	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs531201705	chr8:58153690-58153691	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs538571899	chr8:58153691-58153692	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs17215753	chr8:58153764-58153765	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs190705248	chr8:58153769-58153770	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs576086606	chr8:58156872-58156873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs541591624	chr8:58156968-58156969	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs190950887	chr8:58156980-58156981	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs112389167	chr8:58156991-58156992	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs571915986	chr8:58156993-58156994	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs77310194	chr8:58157014-58157015	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs17804840	chr8:58157045-58157046	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533305696	chr8:58157057-58157058	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs543639369	chr8:58157074-58157075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs150210340	chr8:58157080-58157081	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs115974483	chr8:58157089-58157090	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs548361052	chr8:58157101-58157102	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs373833292	chr8:58157111-58157112	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs111337552	chr8:58157155-58157156	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs56372514	chr8:58157166-58157167	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142122815	chr8:58157176-58157177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs181974219	chr8:58157180-58157181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs539793178	chr8:58157222-58157223	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs556699262	chr8:58157228-58157229	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs10714187	chr8:58157335-58157336	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs55812114	chr8:58157453-58157454	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs207469208	chr8:58157454-58157455	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs536066636	chr8:58157486-58157487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555121030	chr8:58157520-58157521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7460769	chr8:58157523-58157524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs541016631	chr8:58157536-58157537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138867164	chr8:58157547-58157548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577981533	chr8:58157564-58157565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543774916	chr8:58157588-58157589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55825382	chr8:58157605-58157606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs373002036	chr8:58157612-58157613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73607831	chr8:58157649-58157650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542811745	chr8:58157650-58157651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs562002019	chr8:58157710-58157711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186196861	chr8:58157735-58157736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547387192	chr8:58157741-58157742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564170123	chr8:58157781-58157782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533167831	chr8:58157812-58157813	Enhancers	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
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58152600-58153800	Enhancers	Fetal Lung	lung
2	chr8:58157200-58159600	Enhancers	GM12878-XiMat	blood
3	chr8:58159600-58160400	Weak transcription	GM12878-XiMat	blood
4	chr8:58160400-58160600	Enhancers	GM12878-XiMat	blood
5	chr8:58160600-58161200	Weak transcription	GM12878-XiMat	blood
6	chr8:58161200-58163200	Enhancers	GM12878-XiMat	blood
7	chr8:58161800-58162000	Enhancers	Fetal Lung	lung
8	chr8:58162000-58162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:58162000-58162400	Active TSS	Fetal Brain Male	brain
10	chr8:58162000-58162400	Flanking Active TSS	Fetal Lung	lung
11	chr8:58162400-58163600	Enhancers	Fetal Lung	lung
12	chr8:58162400-58165000	Weak transcription	Fetal Brain Male	brain
13	chr8:58163200-58163800	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:58163600-58164800	Weak transcription	Fetal Lung	lung
15	chr8:58163800-58164800	Enhancers	GM12878-XiMat	blood
16	chr8:58164800-58165000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr8:58164800-58166200	Flanking Active TSS	GM12878-XiMat	blood
18	chr8:58165000-58165200	Enhancers	Fetal Lung	lung
19	chr8:58165000-58165400	Enhancers	Fetal Brain Male	brain
20	chr8:58165000-58166000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr8:58166000-58166400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr8:58166200-58167000	Enhancers	GM12878-XiMat	blood
23	chr8:58170200-58170400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:58170400-58171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:58170400-58173000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:58171200-58171800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:58171200-58172400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:58171800-58172200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:58171800-58173000	ZNF genes & repeats	Spleen	Spleen
30	chr8:58172200-58173600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:58172400-58173800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:58173800-58174000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:58174000-58174200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:58174000-58174200	Enhancers	Spleen	Spleen

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