Variant report

Variant	nsv1033943
Chromosome Location	chr8:39515917-39577905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:158)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:158 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:39547188-39547606	HepG2	liver:	n/a	n/a
2	ATF1	chr8:39552789-39552868	K562	blood:	n/a	n/a
3	ATF1	chr8:39574502-39574589	K562	blood:	n/a	n/a
4	ATF2	chr8:39542169-39542470	GM12878	blood:	n/a	n/a
5	BATF	chr8:39538369-39538590	GM12878	blood:	n/a	chr8:39538508-39538519
6	BATF	chr8:39542225-39542523	GM12878	blood:	n/a	n/a
7	BATF	chr8:39542251-39542689	GM12878	blood:	n/a	n/a
8	BCL11A	chr8:39542183-39542620	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:39542248-39542605	GM12878	blood:	n/a	n/a
10	BCLAF1	chr8:39542279-39542596	GM12878	blood:	n/a	n/a
11	BHLHE40	chr8:39542060-39542776	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:39540522-39540568	GM12878	blood:	n/a	n/a
13	CCNT2	chr8:39550530-39550861	K562	blood:	n/a	n/a
14	CEBPB	chr8:39550934-39551155	IMR90	lung:	n/a	chr8:39551018-39551029
15	CEBPB	chr8:39550893-39551144	K562	blood:	n/a	chr8:39551018-39551029
16	CEBPB	chr8:39562647-39562945	A549	lung:	n/a	n/a
17	CEBPB	chr8:39562606-39562938	HepG2	liver:	n/a	n/a
18	CEBPB	chr8:39545791-39545917	A549	lung:	n/a	n/a
19	CEBPB	chr8:39550875-39551134	HepG2	liver:	n/a	chr8:39551018-39551029
20	CEBPB	chr8:39562615-39562959	IMR90	lung:	n/a	n/a
21	CEBPB	chr8:39562626-39562905	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr8:39536157-39536372	HepG2	liver:	n/a	chr8:39536260-39536272
23	CHD1	chr8:39542597-39542843	GM12878	blood:	n/a	n/a
24	CHD1	chr8:39544449-39544453	GM12878	blood:	n/a	n/a
25	CHD1	chr8:39543635-39543758	GM12878	blood:	n/a	n/a
26	CHD2	chr8:39541932-39543050	GM12878	blood:	n/a	n/a
27	CTCF	chr8:39564300-39564450	BE2_C	brain:	n/a	n/a
28	CTCF	chr8:39545941-39545950	GM10248	blood:	n/a	n/a
29	CTCF	chr8:39531405-39531462	GM13976	blood:	n/a	n/a
30	CTCF	chr8:39530060-39530210	BE2_C	brain:	n/a	n/a
31	CTCF	chr8:39547760-39547804	GM19239	blood:	n/a	n/a
32	CUX1	chr8:39520617-39520682	GM12878	blood:	n/a	n/a
33	CUX1	chr8:39542010-39542700	GM12878	blood:	n/a	n/a
34	CUX1	chr8:39544201-39544276	GM12878	blood:	n/a	n/a
35	CUX1	chr8:39575767-39575867	GM12878	blood:	n/a	n/a
36	CUX1	chr8:39538255-39538344	GM12878	blood:	n/a	n/a
37	E2F4	chr8:39546889-39546908	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr8:39542004-39542259	GM12878	blood:	n/a	n/a
39	EBF1	chr8:39540745-39540901	GM12878	blood:	n/a	n/a
40	EBF1	chr8:39538279-39539071	GM12878	blood:	n/a	chr8:39538472-39538485 chr8:39538473-39538484
41	EBF1	chr8:39530578-39530587	GM12878	blood:	n/a	n/a
42	EBF1	chr8:39543841-39544373	GM12878	blood:	n/a	n/a
43	EBF1	chr8:39541845-39542824	GM12878	blood:	n/a	n/a
44	EBF1	chr8:39545479-39545510	GM12878	blood:	n/a	n/a
45	EBF1	chr8:39518243-39518366	GM12878	blood:	n/a	n/a
46	EP300	chr8:39541991-39542633	GM12878	blood:	n/a	n/a
47	EP300	chr8:39530333-39530588	SK-N-SH_RA	brain:	n/a	n/a
48	EP300	chr8:39538257-39538621	GM12878	blood:	n/a	n/a
49	EP300	chr8:39541903-39542883	GM12878	blood:	n/a	n/a
50	EP300	chr8:39543947-39544281	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDO1-3	chr8:39550119-39550199	NONHSAT126179
2	lnc-IDO1-3	chr8:39564309-39564423	NONHSAT126179
3	lnc-IDO1-3	chr8:39550119-39550199	NONHSAT126180
4	lnc-IDO1-2	chr8:39556704-39556807	l_3583_chr8:39549918-39556807_testes
5	lnc-IDO1-3	chr8:39542649-39542931	NONHSAT126179
6	lnc-IDO1-2	chr8:39549919-39550084	l_3583_chr8:39549918-39556807_testes
7	lnc-IDO1-2	chr8:39552257-39552314	l_3583_chr8:39549918-39556807_testes
8	lnc-IDO1-2	chr8:39556641-39556699	l_3583_chr8:39549918-39556807_testes
9	lnc-IDO1-3	chr8:39542693-39542931	NONHSAT126180
10	lnc-IDO1-3	chr8:39564309-39564423	NONHSAT126180

No data

Variant related genes	Relation type
ADAM18	TF binding region

Extended variants
information (count: 1490 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1490 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146719122	chr8:39515927-39515928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552713254	chr8:39515976-39515977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566144482	chr8:39516004-39516005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528716076	chr8:39516005-39516006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548789499	chr8:39516080-39516081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78289902	chr8:39516081-39516082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368745478	chr8:39516169-39516170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191920568	chr8:39516216-39516217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372235985	chr8:39516249-39516250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569321924	chr8:39516250-39516251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538216086	chr8:39516266-39516267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140325905	chr8:39516308-39516309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77273592	chr8:39516327-39516328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540753984	chr8:39516357-39516358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543214636	chr8:39525259-39525260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181534155	chr8:39525287-39525288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545500646	chr8:39525322-39525323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111316876	chr8:39525351-39525352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144115503	chr8:39525382-39525383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564414566	chr8:39525387-39525388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557393677	chr8:39525388-39525389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146480763	chr8:39525394-39525395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367910693	chr8:39525450-39525451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370347997	chr8:39525469-39525470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374070537	chr8:39525497-39525498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565662899	chr8:39525515-39525516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369534486	chr8:39525517-39525518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367561055	chr8:39525521-39525522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528218633	chr8:39525548-39525549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371356217	chr8:39525580-39525581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548257935	chr8:39525593-39525594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138652102	chr8:39525600-39525601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375498917	chr8:39525622-39525623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568269707	chr8:39525631-39525632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149079002	chr8:39525632-39525633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142229705	chr8:39525656-39525657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570682484	chr8:39525657-39525658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144559947	chr8:39525662-39525663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35144407	chr8:39525666-39525667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144088860	chr8:39525677-39525678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553132086	chr8:39525680-39525681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61753675	chr8:39525681-39525682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139863309	chr8:39525684-39525685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs199777132	chr8:39525690-39525691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74967527	chr8:39525732-39525733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547261692	chr8:39525733-39525734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151211873	chr8:39525744-39525745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372698607	chr8:39525746-39525747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2305392	chr8:39525750-39525751	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561716407	chr8:39525765-39525766	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Schizophrenia	20967226	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39515600-39516400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:39515800-39516200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:39515800-39516400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:39515800-39516400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:39516000-39516400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:39525200-39525800	Enhancers	Fetal Lung	lung
7	chr8:39525800-39529200	Weak transcription	Fetal Lung	lung
8	chr8:39529200-39530800	Enhancers	Fetal Lung	lung
9	chr8:39529400-39530600	Enhancers	Colon Smooth Muscle	Colon
10	chr8:39533400-39534200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:39533600-39534000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:39534000-39542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:39537600-39539400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:39538600-39539000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:39538600-39539200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:39538800-39539200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:39539400-39539800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:39539800-39541600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:39541600-39542400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:39542000-39542800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:39542000-39543000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:39542000-39543000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:39542000-39543000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:39542000-39543000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:39542000-39543000	Enhancers	Placenta	Placenta
26	chr8:39542000-39543600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr8:39542400-39543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:39542400-39543000	Enhancers	Fetal Intestine Small	intestine
29	chr8:39542400-39543000	Enhancers	GM12878-XiMat	blood
30	chr8:39542600-39543000	Enhancers	HepG2	liver
31	chr8:39543000-39547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:39543000-39547600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:39547600-39547800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:39547600-39548000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:39548000-39559000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:39559000-39559400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:39559400-39566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:39566200-39567000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:39567000-39567400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links