Variant report

Variant	nsv1017740
Chromosome Location	chr8:39511974-39586376
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:191)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:191 , 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	chr8:39574502-39574589	K562	blood:	n/a	n/a
3	ATF1	chr8:39552789-39552868	K562	blood:	n/a	n/a
4	ATF2	chr8:39542169-39542470	GM12878	blood:	n/a	n/a
5	BATF	chr8:39542225-39542523	GM12878	blood:	n/a	n/a
6	BATF	chr8:39538369-39538590	GM12878	blood:	n/a	chr8:39538508-39538519
7	BATF	chr8:39542251-39542689	GM12878	blood:	n/a	n/a
8	BCL11A	chr8:39542248-39542605	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:39542183-39542620	GM12878	blood:	n/a	n/a
10	BCLAF1	chr8:39542279-39542596	GM12878	blood:	n/a	n/a
11	BHLHE40	chr8:39540522-39540568	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:39542060-39542776	GM12878	blood:	n/a	n/a
13	CCNT2	chr8:39550530-39550861	K562	blood:	n/a	n/a
14	CEBPB	chr8:39562615-39562959	IMR90	lung:	n/a	n/a
15	CEBPB	chr8:39545791-39545917	A549	lung:	n/a	n/a
16	CEBPB	chr8:39562606-39562938	HepG2	liver:	n/a	n/a
17	CEBPB	chr8:39550934-39551155	IMR90	lung:	n/a	chr8:39551018-39551029
18	CEBPB	chr8:39584624-39585155	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr8:39562647-39562945	A549	lung:	n/a	n/a
20	CEBPB	chr8:39562626-39562905	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr8:39536157-39536372	HepG2	liver:	n/a	chr8:39536260-39536272
22	CEBPB	chr8:39550893-39551144	K562	blood:	n/a	chr8:39551018-39551029
23	CEBPB	chr8:39550875-39551134	HepG2	liver:	n/a	chr8:39551018-39551029
24	CHD1	chr8:39542597-39542843	GM12878	blood:	n/a	n/a
25	CHD1	chr8:39543635-39543758	GM12878	blood:	n/a	n/a
26	CHD1	chr8:39544449-39544453	GM12878	blood:	n/a	n/a
27	CHD2	chr8:39541932-39543050	GM12878	blood:	n/a	n/a
28	CTCF	chr8:39531405-39531462	GM13976	blood:	n/a	n/a
29	CTCF	chr8:39564300-39564450	BE2_C	brain:	n/a	n/a
30	CTCF	chr8:39547760-39547804	GM19239	blood:	n/a	n/a
31	CTCF	chr8:39530060-39530210	BE2_C	brain:	n/a	n/a
32	CTCF	chr8:39545941-39545950	GM10248	blood:	n/a	n/a
33	CUX1	chr8:39544201-39544276	GM12878	blood:	n/a	n/a
34	CUX1	chr8:39542010-39542700	GM12878	blood:	n/a	n/a
35	CUX1	chr8:39538255-39538344	GM12878	blood:	n/a	n/a
36	CUX1	chr8:39520617-39520682	GM12878	blood:	n/a	n/a
37	CUX1	chr8:39575767-39575867	GM12878	blood:	n/a	n/a
38	E2F4	chr8:39546889-39546908	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr8:39580670-39581154	MCF10A-Er-Src	breast:	n/a	n/a
40	EBF1	chr8:39538279-39539071	GM12878	blood:	n/a	chr8:39538472-39538485 chr8:39538473-39538484
41	EBF1	chr8:39545479-39545510	GM12878	blood:	n/a	n/a
42	EBF1	chr8:39530578-39530587	GM12878	blood:	n/a	n/a
43	EBF1	chr8:39543841-39544373	GM12878	blood:	n/a	n/a
44	EBF1	chr8:39518243-39518366	GM12878	blood:	n/a	n/a
45	EBF1	chr8:39541845-39542824	GM12878	blood:	n/a	n/a
46	EBF1	chr8:39540745-39540901	GM12878	blood:	n/a	n/a
47	EBF1	chr8:39542004-39542259	GM12878	blood:	n/a	n/a
48	EP300	chr8:39578594-39578840	GM12878	blood:	n/a	n/a
49	EP300	chr8:39530034-39530894	SK-N-SH	brain:	n/a	n/a
50	EP300	chr8:39538354-39538610	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39578570..39581049-chr8:39586519..39588228,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDO1-2	chr8:39556704-39556807	l_3583_chr8:39549918-39556807_testes
2	lnc-IDO1-3	chr8:39550119-39550199	NONHSAT126179
3	lnc-IDO1-2	chr8:39549919-39550084	l_3583_chr8:39549918-39556807_testes
4	lnc-IDO1-3	chr8:39564309-39564423	NONHSAT126179
5	lnc-IDO1-2	chr8:39552257-39552314	l_3583_chr8:39549918-39556807_testes
6	lnc-IDO1-3	chr8:39564309-39564423	NONHSAT126180
7	lnc-IDO1-2	chr8:39556641-39556699	l_3583_chr8:39549918-39556807_testes
8	lnc-IDO1-3	chr8:39542649-39542931	NONHSAT126179
9	lnc-IDO1-3	chr8:39542693-39542931	NONHSAT126180
10	lnc-IDO1-3	chr8:39581267-39581426	NONHSAT126179
11	lnc-IDO1-3	chr8:39581267-39581477	NONHSAT126180
12	lnc-IDO1-3	chr8:39550119-39550199	NONHSAT126180

No data

Variant related genes	Relation type
ADAM18	TF binding region

Extended variants
information (count: 1856 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1856 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557001412	chr8:39512027-39512028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192866861	chr8:39512044-39512045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35496998	chr8:39512183-39512184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143650101	chr8:39512184-39512185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539583896	chr8:39512193-39512194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369246011	chr8:39512215-39512216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546717853	chr8:39512247-39512248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566678544	chr8:39512273-39512274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137894548	chr8:39512322-39512323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184635546	chr8:39512336-39512337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543036504	chr8:39512375-39512376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188735513	chr8:39512378-39512379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538120445	chr8:39512380-39512381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117603307	chr8:39512457-39512458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35728016	chr8:39512488-39512489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs36023107	chr8:39512493-39512494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577605673	chr8:39512518-39512519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73607909	chr8:39512546-39512547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs560164318	chr8:39512607-39512608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181447743	chr8:39512614-39512615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372004146	chr8:39512619-39512620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563216445	chr8:39512634-39512635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142309755	chr8:39512637-39512638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565074698	chr8:39512671-39512672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552043075	chr8:39512701-39512702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532302533	chr8:39512745-39512746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28730314	chr8:39512757-39512758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558023914	chr8:39512780-39512781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186277980	chr8:39512837-39512838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540233656	chr8:39512902-39512903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565976426	chr8:39512906-39512907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369578118	chr8:39512928-39512929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566538564	chr8:39512955-39512956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577878886	chr8:39513005-39513006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529108007	chr8:39513012-39513013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76675456	chr8:39513046-39513047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569004025	chr8:39513082-39513083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114121897	chr8:39513092-39513093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537789827	chr8:39513171-39513172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189434783	chr8:39513187-39513188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557626828	chr8:39513192-39513193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571311101	chr8:39513241-39513242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533890210	chr8:39513245-39513246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553861653	chr8:39513246-39513247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114586734	chr8:39513248-39513249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150537274	chr8:39513264-39513265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536015523	chr8:39513279-39513280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576577285	chr8:39513286-39513287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79449062	chr8:39513287-39513288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374161850	chr8:39513304-39513305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39509000-39515800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr8:39515600-39516400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:39515800-39516200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr8:39515800-39516400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:39515800-39516400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr8:39516000-39516400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:39525200-39525800	Enhancers	Fetal Lung	lung
8	chr8:39525800-39529200	Weak transcription	Fetal Lung	lung
9	chr8:39529200-39530800	Enhancers	Fetal Lung	lung
10	chr8:39529400-39530600	Enhancers	Colon Smooth Muscle	Colon
11	chr8:39533400-39534200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:39533600-39534000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:39534000-39542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:39537600-39539400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:39538600-39539000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:39538600-39539200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:39538800-39539200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:39539400-39539800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:39539800-39541600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:39541600-39542400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:39542000-39542800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:39542000-39543000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:39542000-39543000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:39542000-39543000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:39542000-39543000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr8:39542000-39543000	Enhancers	Placenta	Placenta
27	chr8:39542000-39543600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr8:39542400-39543000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:39542400-39543000	Enhancers	Fetal Intestine Small	intestine
30	chr8:39542400-39543000	Enhancers	GM12878-XiMat	blood
31	chr8:39542600-39543000	Enhancers	HepG2	liver
32	chr8:39543000-39547600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:39543000-39547600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:39547600-39547800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:39547600-39548000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr8:39548000-39559000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:39559000-39559400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr8:39559400-39566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:39566200-39567000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:39567000-39567400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:39580000-39580400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:39580200-39580800	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr8:39580400-39584000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:39582000-39583000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:39583000-39583600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
46	chr8:39583600-39584000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr8:39584000-39584400	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:39584000-39584400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr8:39584000-39584800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr8:39584000-39584800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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