Variant report

Variant	esv2632441
Chromosome Location	chr8:39765076-39766616
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	MAFK	chr8:39765848-39765961	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:39766586-39766731	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
IDO1	TF binding region

Extended variants
information (count: 63 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566379812	chr8:39765102-39765103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533266203	chr8:39765103-39765104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546636523	chr8:39765109-39765110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566860153	chr8:39765119-39765120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116328860	chr8:39765148-39765149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569482224	chr8:39765217-39765218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71518170	chr8:39765244-39765245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs538416301	chr8:39765275-39765276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558402829	chr8:39765339-39765340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566227168	chr8:39765438-39765439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539544409	chr8:39765528-39765529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552841580	chr8:39765532-39765533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560722923	chr8:39765536-39765537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557568845	chr8:39765593-39765594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201765530	chr8:39765636-39765637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199728197	chr8:39765638-39765639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200637396	chr8:39765639-39765640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201332760	chr8:39765640-39765641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199738640	chr8:39765641-39765642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200813411	chr8:39765642-39765643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199535373	chr8:39765646-39765647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115050700	chr8:39765763-39765764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11787179	chr8:39765780-39765781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs9657182	chr8:39765848-39765849	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575186363	chr8:39765892-39765893	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs147625740	chr8:39765893-39765894	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs543968657	chr8:39765901-39765902	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs563948604	chr8:39765913-39765914	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs533205584	chr8:39765948-39765949	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs540717062	chr8:39765950-39765951	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs114551663	chr8:39765979-39765980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115018345	chr8:39765981-39765982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549134848	chr8:39765999-39766000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570231623	chr8:39766010-39766011	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151000204	chr8:39766024-39766025	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537553941	chr8:39766056-39766057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572706492	chr8:39766060-39766061	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569540687	chr8:39766070-39766071	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76281328	chr8:39766101-39766102	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532057067	chr8:39766136-39766137	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150217127	chr8:39766216-39766217	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368568566	chr8:39766229-39766230	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116139637	chr8:39766230-39766231	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534169814	chr8:39766248-39766249	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112142600	chr8:39766250-39766251	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138204975	chr8:39766256-39766257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553142000	chr8:39766257-39766258	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553018492	chr8:39766271-39766272	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199862247	chr8:39766279-39766280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573195530	chr8:39766282-39766283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39760200-39770400	Weak transcription	Right Atrium	heart
2	chr8:39761400-39766800	Weak transcription	Fetal Lung	lung
3	chr8:39762600-39771200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:39763200-39766600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:39763200-39781600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:39763200-39783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:39763400-39765800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:39763400-39781000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:39763800-39766800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:39763800-39780000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:39763800-39781800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:39764600-39766000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:39765800-39773400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:39766000-39768400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr8:39766600-39769000	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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