Variant report

Variant	nsv890839
Chromosome Location	chr8:39553261-39664696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:39661584-39661750	K562	blood:	n/a	n/a
2	ARID3A	chr8:39621219-39621517	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:39599175-39599222	K562	blood:	n/a	n/a
4	ATF1	chr8:39574502-39574589	K562	blood:	n/a	n/a
5	BACH1	chr8:39601076-39601099	K562	blood:	n/a	n/a
6	BACH1	chr8:39601010-39601037	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr8:39661591-39661665	K562	blood:	n/a	n/a
8	BATF	chr8:39637507-39637695	GM12878	blood:	n/a	n/a
9	BATF	chr8:39637507-39637697	GM12878	blood:	n/a	n/a
10	CCNT2	chr8:39613824-39613995	K562	blood:	n/a	n/a
11	CEBPB	chr8:39661488-39661761	K562	blood:	n/a	n/a
12	CEBPB	chr8:39589146-39589277	A549	lung:	n/a	chr8:39589190-39589201
13	CEBPB	chr8:39621750-39622030	HepG2	liver:	n/a	chr8:39621879-39621890
14	CEBPB	chr8:39647716-39648001	IMR90	lung:	n/a	n/a
15	CEBPB	chr8:39610912-39610941	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr8:39562626-39562905	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr8:39647685-39647955	A549	lung:	n/a	n/a
18	CEBPB	chr8:39621751-39621950	H1-hESC	embryonic stem cell:	n/a	chr8:39621879-39621890
19	CEBPB	chr8:39584624-39585155	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr8:39610769-39611092	IMR90	lung:	n/a	n/a
21	CEBPB	chr8:39562615-39562959	IMR90	lung:	n/a	n/a
22	CEBPB	chr8:39635155-39635197	A549	lung:	n/a	n/a
23	CEBPB	chr8:39562606-39562938	HepG2	liver:	n/a	n/a
24	CEBPB	chr8:39621736-39621988	A549	lung:	n/a	chr8:39621879-39621890
25	CEBPB	chr8:39562647-39562945	A549	lung:	n/a	n/a
26	CEBPB	chr8:39589214-39589269	HepG2	liver:	n/a	n/a
27	CHD2	chr8:39659320-39659649	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr8:39659191-39659806	K562	blood:	n/a	n/a
29	CTCF	chr8:39621713-39621735	Fibrobl	skin:	n/a	n/a
30	CTCF	chr8:39621560-39621710	WI-38	lung:	n/a	n/a
31	CTCF	chr8:39564300-39564450	BE2_C	brain:	n/a	n/a
32	CUX1	chr8:39575767-39575867	GM12878	blood:	n/a	n/a
33	E2F4	chr8:39580670-39581154	MCF10A-Er-Src	breast:	n/a	n/a
34	EBF1	chr8:39597010-39597132	GM12878	blood:	n/a	chr8:39597068-39597077
35	EBF1	chr8:39610065-39610367	GM12878	blood:	n/a	n/a
36	EBF1	chr8:39659511-39659689	GM12878	blood:	n/a	chr8:39659548-39659559
37	EBF1	chr8:39634713-39634750	GM12878	blood:	n/a	n/a
38	EP300	chr8:39578594-39578840	GM12878	blood:	n/a	n/a
39	EP300	chr8:39661469-39661782	K562	blood:	n/a	n/a
40	EP300	chr8:39619585-39621723	SK-N-SH	brain:	n/a	chr8:39620401-39620415 chr8:39620730-39620744
41	EP300	chr8:39620399-39620804	SK-N-SH_RA	brain:	n/a	chr8:39620401-39620415 chr8:39620730-39620744
42	EP300	chr8:39620347-39620817	SK-N-SH_RA	brain:	n/a	chr8:39620401-39620415 chr8:39620730-39620744
43	EP300	chr8:39556043-39556051	GM12878	blood:	n/a	n/a
44	EP300	chr8:39661501-39661598	K562	blood:	n/a	n/a
45	FAM48A	chr8:39598711-39598878	GM12878	blood:	n/a	n/a
46	FOS	chr8:39610890-39611061	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr8:39615135-39615433	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr8:39610894-39611099	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr8:39634817-39634995	MCF10A-Er-Src	breast:	n/a	chr8:39634881-39634888 chr8:39634880-39634890 chr8:39634880-39634889 chr8:39634881-39634889 chr8:39634879-39634891
50	FOS	chr8:39634758-39634958	MCF10A-Er-Src	breast:	n/a	chr8:39634881-39634888 chr8:39634880-39634890 chr8:39634880-39634889 chr8:39634881-39634889 chr8:39634879-39634891

No.	Distal block	Cell Line	Cell type
1	chr8:39629008..39630969-chr8:39633550..39635113,2	K562	blood:
2	chr8:39578570..39581049-chr8:39586519..39588228,2	MCF-7	breast:
3	chr8:39629924..39632128-chr8:39633892..39635911,2	MCF-7	breast:
4	chr8:39629008..39630969-chr8:39633550..39635113,2	K562	blood:
5	chr8:39578570..39581049-chr8:39586519..39588228,2	MCF-7	breast:
6	chr8:39629924..39632128-chr8:39633892..39635911,2	MCF-7	breast:
7	chr8:39622412..39624554-chr8:39628340..39630731,2	MCF-7	breast:
8	chr8:39610203..39611775-chr8:39614895..39616496,2	K562	blood:
9	chr8:39602749..39604278-chr8:39604368..39606576,2	K562	blood:
10	chr8:39622412..39624554-chr8:39628340..39630731,2	MCF-7	breast:
11	chr8:39602749..39604278-chr8:39604368..39606576,2	K562	blood:
12	chr8:39610203..39611775-chr8:39614895..39616496,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IDO1-3	chr8:39581267-39581477	NONHSAT126180
2	lnc-IDO1-2	chr8:39556641-39556699	l_3583_chr8:39549918-39556807_testes
3	lnc-IDO1-3	chr8:39581267-39581426	NONHSAT126179
4	lnc-IDO1-3	chr8:39564309-39564423	NONHSAT126180
5	lnc-IDO1-3	chr8:39564309-39564423	NONHSAT126179
6	lnc-IDO1-3	chr8:39587417-39587581	NONHSAT126179
7	lnc-IDO1-2	chr8:39556704-39556807	l_3583_chr8:39549918-39556807_testes

Variant related genes	Relation type
ADAM2	TF binding region
ENSG00000221018	TF binding region

Extended variants
information (count: 2430 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2430 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1901388	chr8:39553261-39553262	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs74984626	chr8:39553352-39553353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577291177	chr8:39553416-39553417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575172143	chr8:39553417-39553418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186240095	chr8:39553498-39553499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190036788	chr8:39553536-39553537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540150800	chr8:39553546-39553547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181276323	chr8:39553556-39553557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573469397	chr8:39553604-39553605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11991456	chr8:39553628-39553629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs541035852	chr8:39553633-39553634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113245971	chr8:39553658-39553659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1597697	chr8:39553685-39553686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75051060	chr8:39553688-39553689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576991448	chr8:39553706-39553707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369051888	chr8:39553765-39553766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs114586519	chr8:39553767-39553768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559429323	chr8:39553779-39553780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72642824	chr8:39553783-39553784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374079920	chr8:39553787-39553788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201738714	chr8:39553788-39553789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200046602	chr8:39553838-39553839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201198876	chr8:39553839-39553840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559680109	chr8:39553860-39553861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs71517758	chr8:39553928-39553929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561706493	chr8:39553930-39553931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190376041	chr8:39553961-39553962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183720657	chr8:39553982-39553983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541711091	chr8:39553994-39553995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149937759	chr8:39554075-39554076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530061436	chr8:39554175-39554176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570905319	chr8:39554242-39554243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560015734	chr8:39554282-39554283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547164674	chr8:39554298-39554299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4614040	chr8:39554341-39554342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145011449	chr8:39554358-39554359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188597816	chr8:39554384-39554385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533316422	chr8:39554390-39554391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140969900	chr8:39554441-39554442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552666162	chr8:39554463-39554464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144891088	chr8:39554491-39554492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4733920	chr8:39554526-39554527	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs563771710	chr8:39554570-39554571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576860432	chr8:39554629-39554630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79819435	chr8:39554668-39554669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111248844	chr8:39554685-39554686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78458269	chr8:39554696-39554697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541687706	chr8:39554701-39554702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377167770	chr8:39554732-39554733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373179832	chr8:39554736-39554737	Weak transcription	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39548000-39559000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:39559000-39559400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:39559400-39566200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:39566200-39567000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:39567000-39567400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:39580000-39580400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:39580200-39580800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:39580400-39584000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr8:39582000-39583000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr8:39583000-39583600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr8:39583600-39584000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:39584000-39584400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:39584000-39584400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:39584000-39584800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr8:39584000-39584800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr8:39584000-39585200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr8:39584200-39584400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:39584200-39585600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:39584400-39584600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:39584400-39584800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:39584400-39585800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:39584400-39586000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr8:39584600-39585000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr8:39584800-39585400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:39584800-39585400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:39584800-39585600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr8:39584800-39585600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr8:39584800-39585600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:39585000-39585200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr8:39585000-39585600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:39585000-39585800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:39585200-39585400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:39585200-39585400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr8:39585200-39585600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr8:39585400-39585800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr8:39585400-39585800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:39585400-39586400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr8:39585400-39586600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
39	chr8:39585600-39585800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr8:39585600-39585800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr8:39585800-39587200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:39585800-39587600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:39587600-39587800	ZNF genes & repeats	Lung	lung
44	chr8:39587600-39588200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr8:39587600-39588200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:39588200-39594800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:39594800-39595000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:39604800-39605800	Enhancers	Colon Smooth Muscle	Colon
49	chr8:39620000-39621000	Enhancers	Stomach Smooth Muscle	stomach
50	chr8:39620800-39621200	Enhancers	Colon Smooth Muscle	Colon

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