Variant report

Variant	nsv890840
Chromosome Location	chr8:39597328-39664696
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	chr8:39599175-39599222	K562	blood:	n/a	n/a
2	ARID3A	chr8:39661584-39661750	K562	blood:	n/a	n/a
3	ARID3A	chr8:39621219-39621517	HepG2	liver:	n/a	n/a
4	BACH1	chr8:39601010-39601037	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr8:39661591-39661665	K562	blood:	n/a	n/a
6	BACH1	chr8:39601076-39601099	K562	blood:	n/a	n/a
7	BATF	chr8:39637507-39637697	GM12878	blood:	n/a	n/a
8	BATF	chr8:39637507-39637695	GM12878	blood:	n/a	n/a
9	CCNT2	chr8:39613824-39613995	K562	blood:	n/a	n/a
10	CEBPB	chr8:39621750-39622030	HepG2	liver:	n/a	chr8:39621879-39621890
11	CEBPB	chr8:39647685-39647955	A549	lung:	n/a	n/a
12	CEBPB	chr8:39610769-39611092	IMR90	lung:	n/a	n/a
13	CEBPB	chr8:39661488-39661761	K562	blood:	n/a	n/a
14	CEBPB	chr8:39621751-39621950	H1-hESC	embryonic stem cell:	n/a	chr8:39621879-39621890
15	CEBPB	chr8:39635155-39635197	A549	lung:	n/a	n/a
16	CEBPB	chr8:39647716-39648001	IMR90	lung:	n/a	n/a
17	CEBPB	chr8:39610912-39610941	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr8:39621736-39621988	A549	lung:	n/a	chr8:39621879-39621890
19	CHD2	chr8:39659191-39659806	K562	blood:	n/a	n/a
20	CHD2	chr8:39659320-39659649	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr8:39621560-39621710	WI-38	lung:	n/a	n/a
22	CTCF	chr8:39621713-39621735	Fibrobl	skin:	n/a	n/a
23	EBF1	chr8:39634713-39634750	GM12878	blood:	n/a	n/a
24	EBF1	chr8:39610065-39610367	GM12878	blood:	n/a	n/a
25	EBF1	chr8:39659511-39659689	GM12878	blood:	n/a	chr8:39659548-39659559
26	EP300	chr8:39661469-39661782	K562	blood:	n/a	n/a
27	EP300	chr8:39619585-39621723	SK-N-SH	brain:	n/a	chr8:39620401-39620415 chr8:39620730-39620744
28	EP300	chr8:39661501-39661598	K562	blood:	n/a	n/a
29	EP300	chr8:39620347-39620817	SK-N-SH_RA	brain:	n/a	chr8:39620401-39620415 chr8:39620730-39620744
30	EP300	chr8:39620399-39620804	SK-N-SH_RA	brain:	n/a	chr8:39620401-39620415 chr8:39620730-39620744
31	FAM48A	chr8:39598711-39598878	GM12878	blood:	n/a	n/a
32	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
33	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
34	FOS	chr8:39610894-39611099	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr8:39610890-39611061	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr8:39615135-39615433	MCF10A-Er-Src	breast:	n/a	n/a
37	FOXA1	chr8:39621092-39621521	HepG2	liver:	n/a	chr8:39621241-39621256
38	FOXA1	chr8:39621103-39621397	T-47D	breast:	n/a	chr8:39621241-39621256
39	FOXA1	chr8:39621042-39621405	HepG2	liver:	n/a	chr8:39621241-39621256
40	FOXA1	chr8:39621081-39621399	T-47D	breast:	n/a	chr8:39621241-39621256
41	FOXA1	chr8:39621061-39621438	HepG2	liver:	n/a	chr8:39621241-39621256
42	FOXA1	chr8:39620948-39621463	HepG2	liver:	n/a	chr8:39621241-39621256
43	FOXA2	chr8:39621140-39621415	HepG2	liver:	n/a	n/a
44	FOXA2	chr8:39621107-39621380	A549	lung:	n/a	n/a
45	GATA2	chr8:39619742-39621604	SH-SY5Y	brain:	n/a	n/a
46	GATA2	chr8:39610009-39610440	SH-SY5Y	brain:	n/a	n/a
47	GATA3	chr8:39633803-39635157	MCF-7	breast:	n/a	chr8:39634266-39634282
48	GATA3	chr8:39634694-39635120	MCF-7	breast:	n/a	n/a
49	GATA3	chr8:39634602-39634858	SH-SY5Y	brain:	n/a	n/a
50	GATA3	chr8:39634076-39634259	SH-SY5Y	brain:	n/a	n/a

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

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

Extended variants
information (count: 1284 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1284 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545414507	chr8:39604837-39604838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185540263	chr8:39604851-39604852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375772509	chr8:39604853-39604854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149013484	chr8:39604864-39604865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114871202	chr8:39604903-39604904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190348060	chr8:39604919-39604920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376166154	chr8:39604995-39604996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182904705	chr8:39605028-39605029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529008230	chr8:39605038-39605039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143800740	chr8:39605060-39605061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186254622	chr8:39605080-39605081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201973	chr8:39605113-39605114	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538030661	chr8:39605132-39605133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551423261	chr8:39605184-39605185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138226618	chr8:39605192-39605193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192097975	chr8:39605196-39605197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554155716	chr8:39605202-39605203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201972	chr8:39605204-39605205	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570081928	chr8:39605294-39605295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372064697	chr8:39605407-39605408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536393120	chr8:39605412-39605413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556226236	chr8:39605420-39605421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113045862	chr8:39605424-39605425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370464973	chr8:39605474-39605475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545560968	chr8:39605482-39605483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182772438	chr8:39605490-39605491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374604178	chr8:39605509-39605510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201971	chr8:39605515-39605516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541321622	chr8:39605537-39605538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560194819	chr8:39605567-39605568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560556109	chr8:39605619-39605620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542784409	chr8:39605636-39605637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112325617	chr8:39605639-39605640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142717401	chr8:39605754-39605755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531436102	chr8:39605755-39605756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551578316	chr8:39605798-39605799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543474600	chr8:39613772-39613773	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563653439	chr8:39613778-39613779	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs57787712	chr8:39613883-39613884	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs58048436	chr8:39613885-39613886	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs377711043	chr8:39613889-39613890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs566322043	chr8:39613893-39613894	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs528673468	chr8:39613921-39613922	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs114833640	chr8:39613939-39613940	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs568672595	chr8:39613992-39613993	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs535847724	chr8:39613996-39613997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs537719085	chr8:39614020-39614021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs539569595	chr8:39614067-39614068	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs555898580	chr8:39614069-39614070	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs183856078	chr8:39614089-39614090	Inactive region	TF binding region	1 gene(s)	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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39604800-39605800	Enhancers	Colon Smooth Muscle	Colon
2	chr8:39620000-39621000	Enhancers	Stomach Smooth Muscle	stomach
3	chr8:39620800-39621200	Enhancers	Colon Smooth Muscle	Colon
4	chr8:39620800-39621800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:39620800-39622200	Enhancers	Fetal Intestine Large	intestine
6	chr8:39620800-39622200	Enhancers	Fetal Intestine Small	intestine
7	chr8:39621000-39621200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:39621000-39621400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr8:39621000-39622000	Enhancers	HepG2	liver
10	chr8:39621000-39622200	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:39621200-39622200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:39621400-39622000	Enhancers	Stomach Smooth Muscle	stomach
13	chr8:39621600-39622000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:39621800-39622000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:39621800-39622200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:39621800-39622200	Enhancers	Fetal Stomach	stomach
17	chr8:39623800-39634200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:39633800-39634200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr8:39633800-39634400	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:39634400-39634600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:39647800-39659200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:39649200-39649400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:39649400-39650400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:39650200-39651000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:39650200-39651200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:39650400-39651000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:39650400-39651200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr8:39659000-39659800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr8:39659200-39659800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:39659200-39659800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:39659200-39659800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:39659400-39659800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:39659600-39659800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr8:39659600-39664600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:39661000-39661600	Active TSS	A549	lung
36	chr8:39664600-39664800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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