Variant report

Variant	nsv611409
Chromosome Location	chr8:58438221-58542880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:935)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:935 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:58462919-58463233	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:58499788-58500142	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:58492647-58493411	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:58500894-58501389	HepG2	liver:	n/a	n/a
5	ARID3A	chr8:58476520-58477283	HepG2	liver:	n/a	n/a
6	ATF2	chr8:58492953-58493463	GM12878	blood:	n/a	n/a
7	BATF	chr8:58493059-58493347	GM12878	blood:	n/a	chr8:58493204-58493215
8	BCL11A	chr8:58510285-58510560	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr8:58476576-58477390	A549	lung:	n/a	n/a
10	BHLHE40	chr8:58500849-58501230	HepG2	liver:	n/a	n/a
11	CBX3	chr8:58510232-58510480	HCT-116	colon:	n/a	n/a
12	CBX3	chr8:58510249-58510452	K562	blood:	n/a	n/a
13	CEBPB	chr8:58463050-58463218	HepG2	liver:	n/a	n/a
14	CEBPB	chr8:58499687-58500231	MCF-7	breast:	n/a	n/a
15	CEBPB	chr8:58500565-58500597	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr8:58476786-58477197	A549	lung:	n/a	n/a
17	CEBPB	chr8:58510239-58510577	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr8:58500915-58501211	HepG2	liver:	n/a	n/a
19	CEBPB	chr8:58492944-58493340	HepG2	liver:	n/a	n/a
20	CEBPB	chr8:58449165-58449365	A549	lung:	n/a	n/a
21	CEBPB	chr8:58495747-58495758	K562	blood:	n/a	n/a
22	CEBPB	chr8:58506299-58506568	HepG2	liver:	n/a	chr8:58506491-58506504 chr8:58506397-58506408
23	CEBPB	chr8:58476753-58477143	HCT-116	colon:	n/a	n/a
24	CEBPB	chr8:58518966-58519006	HepG2	liver:	n/a	n/a
25	CEBPB	chr8:58471399-58471681	HepG2	liver:	n/a	n/a
26	CEBPB	chr8:58540717-58540946	A549	lung:	n/a	chr8:58540781-58540792
27	CEBPB	chr8:58472080-58472400	A549	lung:	n/a	n/a
28	CEBPB	chr8:58500276-58500614	HepG2	liver:	n/a	chr8:58500451-58500464
29	CEBPB	chr8:58494550-58494740	HepG2	liver:	n/a	chr8:58494697-58494708
30	CEBPB	chr8:58528378-58528615	A549	lung:	n/a	chr8:58528492-58528503
31	CEBPB	chr8:58471379-58471748	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr8:58463011-58463359	HepG2	liver:	n/a	n/a
33	CEBPB	chr8:58476582-58477291	HepG2	liver:	n/a	n/a
34	CEBPB	chr8:58500963-58501204	HepG2	liver:	n/a	n/a
35	CEBPB	chr8:58506312-58506591	A549	lung:	n/a	chr8:58506491-58506504 chr8:58506397-58506408
36	CEBPB	chr8:58463015-58463318	MCF-7	breast:	n/a	n/a
37	CEBPB	chr8:58510291-58510461	MCF-7	breast:	n/a	n/a
38	CEBPB	chr8:58442628-58442636	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr8:58499731-58500732	MCF-7	breast:	n/a	chr8:58500451-58500464
40	CEBPB	chr8:58476611-58477352	A549	lung:	n/a	n/a
41	CEBPB	chr8:58471381-58471619	IMR90	lung:	n/a	n/a
42	CEBPB	chr8:58540627-58540916	HepG2	liver:	n/a	chr8:58540781-58540792
43	CEBPB	chr8:58528410-58528618	HepG2	liver:	n/a	chr8:58528492-58528503
44	CEBPB	chr8:58514301-58514448	A549	lung:	n/a	n/a
45	CEBPB	chr8:58500390-58500522	A549	lung:	n/a	chr8:58500451-58500464
46	CEBPB	chr8:58449571-58449863	MCF-7	breast:	n/a	n/a
47	CHD2	chr8:58492828-58493290	HepG2	liver:	n/a	n/a
48	CHD2	chr8:58500980-58501095	HepG2	liver:	n/a	n/a
49	CHD2	chr8:58499915-58500236	HepG2	liver:	n/a	n/a
50	CHD2	chr8:58510344-58510542	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:58504798..58506738-chr8:58508959..58511696,2	MCF-7	breast:
2	chr8:58458453..58461364-chr8:58462477..58464451,2	MCF-7	breast:
3	chr8:58489931..58492018-chr8:58907170..58909246,2	MCF-7	breast:
4	chr8:58489495..58490193-chr8:58651461..58652081,3	MCF-7	breast:
5	chr8:58489621..58490358-chr8:58651676..58652569,4	MCF-7	breast:
6	chr3:27395027..27395631-chr8:58500130..58500818,2	MCF-7	breast:
7	chr8:58487606..58488471-chr8:58651601..58652426,3	MCF-7	breast:
8	chr8:58458453..58461364-chr8:58462477..58464451,2	MCF-7	breast:
9	chr8:58462603..58464504-chr8:58491631..58493379,2	K562	blood:
10	chr8:58404877..58405459-chr8:58487377..58488213,3	MCF-7	breast:
11	chr8:58487534..58488381-chr8:59156649..59157508,2	MCF-7	breast:
12	chr8:58537334..58539259-chr8:58545738..58547653,2	K562	blood:
13	chr8:58512585..58515336-chr8:58516943..58518859,2	K562	blood:
14	chr8:58462603..58464504-chr8:58491631..58493379,2	K562	blood:
15	chr8:58499798..58502598-chr8:59323213..59325065,2	MCF-7	breast:
16	chr8:58512585..58515336-chr8:58516943..58518859,2	K562	blood:
17	chr8:58332657..58333329-chr8:58487609..58488171,2	MCF-7	breast:
18	chr8:58504798..58506738-chr8:58508959..58511696,2	MCF-7	breast:
19	chr4:139291348..139291947-chr8:58507526..58508108,2	MCF-7	breast:
20	chr8:58487549..58488499-chr8:59307870..59308447,3	MCF-7	breast:
21	chr8:58460821..58463332-chr8:58465089..58467286,2	K562	blood:
22	chr8:58460821..58463332-chr8:58465089..58467286,2	K562	blood:
23	chr8:58489820..58490346-chr8:59307522..59308461,2	MCF-7	breast:
24	chr8:58487590..58488096-chr8:59301318..59302266,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM110B-4	chr8:58458029-58463564	NONHSAT126757
2	lnc-FAM110B-4	chr8:58504039-58504118	ENSG00000253821
3	lnc-IMPAD1-2	chr8:58506725-58507021	ENSG00000253322
4	lnc-FAM110B-4	chr8:58458028-58458502	ENSG00000253821
5	lnc-FAM110B-10	chr8:58439655-58439967	ucscGeneNc_uc003xth_2

No data

Variant related genes	Relation type
RNU7-174P	TF binding region
ENSG00000253821	chromatin interactions
ENSG00000215114	chromatin interactions

Extended variants
information (count: 2540 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2540 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7828768	chr8:58438221-58438222	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544876214	chr8:58438222-58438223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147859355	chr8:58438234-58438235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567704378	chr8:58438304-58438305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530580378	chr8:58438407-58438408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116618726	chr8:58438437-58438438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377116652	chr8:58438501-58438502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191285604	chr8:58438583-58438584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537859138	chr8:58438631-58438632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569720548	chr8:58438659-58438660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7832573	chr8:58438683-58438684	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566269199	chr8:58438870-58438871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548940530	chr8:58438893-58438894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535359216	chr8:58438897-58438898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372350642	chr8:58438911-58438912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372968982	chr8:58438916-58438917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571877982	chr8:58438929-58438930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148641978	chr8:58438941-58438942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs57912477	chr8:58438947-58438948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55695347	chr8:58438961-58438962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537594829	chr8:58438995-58438996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565577114	chr8:58439219-58439220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534883495	chr8:58439251-58439252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556824972	chr8:58439258-58439259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573665773	chr8:58439263-58439264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558109002	chr8:58439267-58439268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542286564	chr8:58439285-58439286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552955319	chr8:58439299-58439300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs28453976	chr8:58439314-58439315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs115029624	chr8:58439342-58439343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564792622	chr8:58439373-58439374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530666884	chr8:58439395-58439396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537252777	chr8:58439427-58439428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543996117	chr8:58439461-58439462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369765758	chr8:58439543-58439544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76358720	chr8:58439568-58439569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144941426	chr8:58439582-58439583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566078767	chr8:58439632-58439633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72654901	chr8:58439651-58439652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149060481	chr8:58439692-58439693	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs541991613	chr8:58439697-58439698	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs571967190	chr8:58439710-58439711	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs372545327	chr8:58439752-58439753	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs376329989	chr8:58439784-58439785	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs556488846	chr8:58439786-58439787	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs143771926	chr8:58439795-58439796	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs536363750	chr8:58439821-58439822	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs552753879	chr8:58439825-58439826	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs200592051	chr8:58439875-58439876	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs572510816	chr8:58439885-58439886	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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

Chromatin state (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58436800-58439000	Enhancers	HSMM	muscle
2	chr8:58437800-58438400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:58437800-58439200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr8:58438000-58438800	Enhancers	NHDF-Ad	bronchial
5	chr8:58438200-58438600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:58438200-58438800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:58438200-58439200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:58438400-58438600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:58438600-58441000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:58438600-58443800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:58438800-58443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:58438800-58444000	Weak transcription	NHDF-Ad	bronchial
13	chr8:58439000-58439600	Enhancers	Pancreas	Pancrea
14	chr8:58439000-58444000	Weak transcription	HSMM	muscle
15	chr8:58439200-58439600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:58439200-58444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:58439400-58439800	Enhancers	Stomach Mucosa	stomach
18	chr8:58439600-58439800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr8:58439800-58443800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:58441000-58442000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:58441800-58444000	Enhancers	Fetal Brain Male	brain
22	chr8:58442000-58443000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:58442800-58443600	Enhancers	Fetal Heart	heart
24	chr8:58442800-58444000	Enhancers	Fetal Brain Female	brain
25	chr8:58443000-58443200	Enhancers	Fetal Kidney	kidney
26	chr8:58443000-58443200	Enhancers	Placenta	Placenta
27	chr8:58443000-58443200	Enhancers	Right Atrium	heart
28	chr8:58443000-58443400	Enhancers	Fetal Muscle Leg	muscle
29	chr8:58443000-58443600	Enhancers	Colon Smooth Muscle	Colon
30	chr8:58443000-58445000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:58443600-58447600	Weak transcription	Colon Smooth Muscle	Colon
32	chr8:58443800-58444000	Enhancers	Fetal Kidney	kidney
33	chr8:58443800-58444600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:58443800-58444600	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr8:58443800-58444800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:58444000-58444400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:58444000-58444600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:58444000-58444600	Enhancers	HSMM	muscle
39	chr8:58444000-58444600	Enhancers	HSMMtube	muscle
40	chr8:58444000-58444600	Enhancers	NHDF-Ad	bronchial
41	chr8:58444000-58444600	Enhancers	Osteobl	bone
42	chr8:58444000-58444800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:58444000-58446200	Weak transcription	Fetal Brain Male	brain
44	chr8:58444200-58444600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:58444200-58444600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:58444400-58444600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:58444400-58444800	Active TSS	A549	lung
48	chr8:58444600-58445000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr8:58444600-58447400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:58444600-58449600	Weak transcription	Muscle Satellite Cultured Cells	--

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