Variant report

Variant	esv3444411
Chromosome Location	chr8:1204995-1207893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:1204866-1205001	MCF-7	breast:	n/a	n/a
2	GABPA	chr8:1206148-1206359	Hela-S3	cervix:	n/a	n/a
3	KAP1	chr8:1205485-1206543	HEK293	kidney:	n/a	n/a
4	SETDB1	chr8:1205635-1205883	U2OS	brain:	n/a	n/a
5	SRF	chr8:1205879-1206099	GM12878	blood:	n/a	n/a
6	SRF	chr8:1206145-1206349	GM12878	blood:	n/a	n/a
7	ZNF274	chr8:1205693-1206334	NT2-D1	testis:	n/a	n/a
8	ZNF274	chr8:1205975-1206336	GM08714	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1207710-1207760	PANC-1	pancreas:	n/a
2	chr8:1207238-1207288	AG04450	lung:	fetal
3	chr8:1207710-1207760	ECC-1	luminal epithelium:	n/a
4	chr8:1207291-1207341	HCT-116	colon:	n/a
5	chr8:1207291-1207341	Hela-S3	cervix:	n/a
6	chr8:1207238-1207288	AG09309	skin:	n/a
7	chr8:1207238-1207288	H1-hESC	embryonic stem cell:	embryo
8	chr8:1207291-1207341	AG04449	skin:	fetal
9	chr8:1207710-1207760	HUVEC	blood vessel:	n/a
10	chr8:1207710-1207760	T-47D	breast:	n/a
11	chr8:1207710-1207760	MCF-7	breast:	n/a
12	chr8:1207710-1207760	HMEC	breast:	n/a
13	chr8:1207238-1207288	GM19239	blood:	n/a
14	chr8:1207710-1207760	HL-60	blood:	n/a
15	chr8:1207710-1207760	AoSMC	blood vessel:	n/a
16	chr8:1207710-1207760	H1-hESC	embryonic stem cell:	embryo
17	chr8:1207291-1207341	GM12892	blood:	n/a
18	chr8:1207291-1207341	SAEC	small airway:	n/a
19	chr8:1207710-1207760	AG09319	gingival:	n/a
20	chr8:1207238-1207288	BJ	skin:	n/a
21	chr8:1207710-1207760	Jurkat	blood:	n/a
22	chr8:1207710-1207760	BJ	skin:	n/a
23	chr8:1207238-1207288	GM06990	blood:	n/a
24	chr8:1207710-1207760	CMK	blood:	n/a
25	chr8:1207710-1207760	Hela-S3	cervix:	n/a
26	chr8:1207710-1207760	GM12891	blood:	n/a
27	chr8:1207238-1207288	HAEpiC	amniotic membrane:	n/a
28	chr8:1207710-1207760	HRPEpiC	eye:	n/a
29	chr8:1207710-1207760	Caco-2	colon:	n/a
30	chr8:1207238-1207288	Hela-S3	cervix:	n/a
31	chr8:1207238-1207288	PANC-1	pancreas:	n/a
32	chr8:1207710-1207760	SKMC	muscle:	n/a
33	chr8:1207710-1207760	SK-N-SH_RA	brain:	n/a
34	chr8:1207238-1207288	HepG2	liver:	n/a
35	chr8:1207238-1207288	RPTEC	kidney:	n/a
36	chr8:1207238-1207288	A549	lung:	n/a
37	chr8:1207291-1207341	AG10803	skin:	n/a
38	chr8:1207710-1207760	NT2-D1	testis:	n/a
39	chr8:1207291-1207341	AG09319	gingival:	n/a
40	chr8:1207238-1207288	NT2-D1	testis:	n/a
41	chr8:1207238-1207288	HUVEC	blood vessel:	n/a
42	chr8:1207291-1207341	HMEC	breast:	n/a
43	chr8:1207291-1207341	CMK	blood:	n/a
44	chr8:1207291-1207341	MCF10A-Er-Src	breast:	n/a
45	chr8:1207291-1207341	Jurkat	blood:	n/a
46	chr8:1207238-1207288	AG10803	skin:	n/a
47	chr8:1207238-1207288	SK-N-SH	brain:	n/a
48	chr8:1207238-1207288	GM12878	blood:	n/a
49	chr8:1207710-1207760	HepG2	liver:	n/a
50	chr8:1207238-1207288	LNCaP	prostate:	n/a

No data

Variant related genes	Relation type
ENSG00000254269	TF binding region
ENSG00000254269	CpG island

Extended variants
information (count: 293 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537111497	chr8:1204995-1204996	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs557329382	chr8:1204999-1205000	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs114834423	chr8:1205007-1205008	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373420934	chr8:1205008-1205009	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs377504578	chr8:1205011-1205012	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146328141	chr8:1205012-1205013	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370995974	chr8:1205013-1205014	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183173179	chr8:1205017-1205018	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545307285	chr8:1205025-1205026	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs397974126	chr8:1205026-1205027	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58671235	chr8:1205027-1205028	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57766960	chr8:1205029-1205030	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113524354	chr8:1205038-1205039	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571937452	chr8:1205054-1205055	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56681232	chr8:1205056-1205057	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565348850	chr8:1205059-1205060	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs36145626	chr8:1205067-1205068	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540824180	chr8:1205068-1205069	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560691676	chr8:1205070-1205071	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs112839379	chr8:1205073-1205074	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543123214	chr8:1205074-1205075	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12549592	chr8:1205088-1205089	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563310628	chr8:1205090-1205091	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71855475	chr8:1205091-1205092	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs61728615	chr8:1205093-1205094	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199621874	chr8:1205094-1205095	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61720798	chr8:1205101-1205102	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61722423	chr8:1205105-1205106	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531996555	chr8:1205106-1205107	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539763827	chr8:1205108-1205109	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552929965	chr8:1205110-1205111	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72133058	chr8:1205123-1205124	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61720549	chr8:1205129-1205130	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61720641	chr8:1205130-1205131	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12544612	chr8:1205133-1205134	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12542265	chr8:1205139-1205140	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528734741	chr8:1205157-1205158	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138572657	chr8:1205161-1205162	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12549608	chr8:1205176-1205177	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540024553	chr8:1205180-1205181	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58791451	chr8:1205190-1205191	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376645861	chr8:1205191-1205192	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568624005	chr8:1205194-1205195	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369619078	chr8:1205196-1205197	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550765136	chr8:1205197-1205198	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs58783470	chr8:1205200-1205201	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs61720652	chr8:1205208-1205209	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs66491336	chr8:1205213-1205214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs61728613	chr8:1205215-1205216	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111275060	chr8:1205235-1205236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1200600-1206400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:1202600-1207200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:1202600-1209200	Weak transcription	Fetal Lung	lung
4	chr8:1202800-1210800	Weak transcription	Gastric	stomach
5	chr8:1203800-1205000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr8:1204000-1205000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:1204000-1205200	Enhancers	Brain Angular Gyrus	brain
8	chr8:1204200-1205000	Enhancers	Brain Anterior Caudate	brain
9	chr8:1205000-1209000	Weak transcription	Brain Anterior Caudate	brain
10	chr8:1205600-1205800	Enhancers	Brain Germinal Matrix	brain
11	chr8:1205600-1205800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:1206000-1206200	Enhancers	Right Ventricle	heart
13	chr8:1206000-1208400	Weak transcription	Brain Germinal Matrix	brain
14	chr8:1206400-1207000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:1207000-1210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:1207200-1210000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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