Variant report

Variant	nsv972582
Chromosome Location	chr8:39633744-39642252
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	BATF	chr8:39637507-39637695	GM12878	blood:	n/a	n/a
2	BATF	chr8:39637507-39637697	GM12878	blood:	n/a	n/a
3	CEBPB	chr8:39635155-39635197	A549	lung:	n/a	n/a
4	EBF1	chr8:39634713-39634750	GM12878	blood:	n/a	n/a
5	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
6	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
7	GATA3	chr8:39634694-39635120	MCF-7	breast:	n/a	n/a
8	GATA3	chr8:39634154-39635058	MCF-7	breast:	n/a	chr8:39634266-39634282
9	GATA3	chr8:39634517-39635291	MCF-7	breast:	n/a	n/a
10	GATA3	chr8:39634076-39634259	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr8:39633803-39635157	MCF-7	breast:	n/a	chr8:39634266-39634282
12	GATA3	chr8:39634602-39634858	SH-SY5Y	brain:	n/a	n/a
13	JUND	chr8:39634772-39634994	HepG2	liver:	n/a	chr8:39634879-39634890 chr8:39634881-39634888 chr8:39634880-39634890 chr8:39634880-39634889 chr8:39634881-39634889 chr8:39634879-39634891
14	MAFF	chr8:39633918-39634211	K562	blood:	n/a	n/a
15	MAFF	chr8:39633887-39634235	HepG2	liver:	n/a	n/a
16	MAFK	chr8:39633880-39634239	IMR90	lung:	n/a	chr8:39634050-39634067 chr8:39634132-39634143
17	MAFK	chr8:39633886-39634232	HepG2	liver:	n/a	chr8:39634050-39634067 chr8:39634132-39634143
18	MAFK	chr8:39633950-39634106	K562	blood:	n/a	chr8:39634050-39634067
19	MAFK	chr8:39633880-39634237	HepG2	liver:	n/a	chr8:39634050-39634067 chr8:39634132-39634143
20	POLR2A	chr8:39638669-39638785	GM12878	blood:	n/a	n/a
21	TCF12	chr8:39634445-39635135	MCF-7	breast:	n/a	n/a
22	TCF12	chr8:39634570-39635111	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:39629008..39630969-chr8:39633550..39635113,2	K562	blood:
2	chr8:39629924..39632128-chr8:39633892..39635911,2	MCF-7	breast:

Variant related genes	Relation type
ADAM2	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376377318	chr8:39633756-39633757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568849572	chr8:39633770-39633771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192104272	chr8:39633784-39633785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117174242	chr8:39633854-39633855	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs117636214	chr8:39633865-39633866	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs533996488	chr8:39633884-39633885	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs202003	chr8:39633957-39633958	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs202002	chr8:39633965-39633966	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2290301	chr8:39633967-39633968	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs139590626	chr8:39633968-39633969	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs576367519	chr8:39634014-39634015	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs180810129	chr8:39634030-39634031	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs565399442	chr8:39634082-39634083	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs527736320	chr8:39634084-39634085	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs548052370	chr8:39634090-39634091	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs149715119	chr8:39634117-39634118	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551961803	chr8:39634171-39634172	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530445508	chr8:39634174-39634175	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs550480380	chr8:39634199-39634200	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185425172	chr8:39634239-39634240	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs75730114	chr8:39634246-39634247	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs59459903	chr8:39634263-39634264	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs563901288	chr8:39634308-39634309	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs112674570	chr8:39634310-39634311	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535539228	chr8:39634317-39634318	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs372524578	chr8:39634400-39634401	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557079023	chr8:39634450-39634451	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs543151201	chr8:39634464-39634465	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs531324463	chr8:39634483-39634484	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs530897325	chr8:39634492-39634493	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs553595432	chr8:39634509-39634510	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573476432	chr8:39634511-39634512	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs536172942	chr8:39634519-39634520	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556054229	chr8:39634566-39634567	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs545821972	chr8:39634569-39634570	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576228322	chr8:39634620-39634621	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs376672589	chr8:39634647-39634648	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs369996616	chr8:39634671-39634672	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369312313	chr8:39634674-39634675	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs200082856	chr8:39634685-39634686	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs367751242	chr8:39634686-39634687	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs182562838	chr8:39634703-39634704	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs558638008	chr8:39634705-39634706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371192342	chr8:39634706-39634707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs188028572	chr8:39634710-39634711	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs146763997	chr8:39634759-39634760	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs191650158	chr8:39634868-39634869	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs183634610	chr8:39634881-39634882	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs1901387	chr8:39634917-39634918	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs115197035	chr8:39635009-39635010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39623800-39634200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:39633800-39634200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:39633800-39634400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:39634400-39634600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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