Variant report

Variant	esv1559640
Chromosome Location	chr8:1197270-1197272
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:1196853-1197288	MCF-7	breast:	n/a	n/a
2	SETDB1	chr8:1196951-1197403	U2OS	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1197231-1197281	BE2_C	brain:	n/a
2	chr8:1197231-1197281	U87	brain:	n/a
3	chr8:1197231-1197281	MCF-7	breast:	n/a
4	chr8:1197231-1197281	NH-A	brain:	n/a
5	chr8:1197231-1197281	PFSK-1	brain:	n/a
6	chr8:1197231-1197281	PrEC	prostate:	n/a
7	chr8:1197231-1197281	AG04450	lung:	fetal
8	chr8:1197231-1197281	A549	lung:	n/a
9	chr8:1197231-1197281	RPTEC	kidney:	n/a
10	chr8:1197231-1197281	SK-N-SH_RA	brain:	n/a
11	chr8:1197231-1197281	HRCEpiC	kidney:	n/a
12	chr8:1197231-1197281	NHDF-neo	bronchial:	n/a
13	chr8:1197231-1197281	AG09309	skin:	n/a
14	chr8:1197231-1197281	CMK	blood:	n/a
15	chr8:1197231-1197281	K562	blood:	n/a
16	chr8:1197231-1197281	HL-60	blood:	n/a
17	chr8:1197231-1197281	Jurkat	blood:	n/a
18	chr8:1197231-1197281	NHBE	bronchial:	n/a
19	chr8:1197231-1197281	SK-N-SH	brain:	n/a
20	chr8:1197231-1197281	HCF	heart:	n/a
21	chr8:1197231-1197281	NB4	blood:	n/a
22	chr8:1197231-1197281	ovcar-3	ovarian:	n/a
23	chr8:1197231-1197281	SAEC	small airway:	n/a
24	chr8:1197231-1197281	Caco-2	colon:	n/a
25	chr8:1197231-1197281	HPAEpiC	pulmonary alveolar:	n/a
26	chr8:1197231-1197281	BJ	skin:	n/a
27	chr8:1197231-1197281	LNCaP	prostate:	n/a
28	chr8:1197231-1197281	Hela-S3	cervix:	n/a
29	chr8:1197231-1197281	NT2-D1	testis:	n/a
30	chr8:1197231-1197281	AoSMC	blood vessel:	n/a
31	chr8:1197231-1197281	GM12892	blood:	n/a
32	chr8:1197231-1197281	HUVEC	blood vessel:	n/a
33	chr8:1197231-1197281	IMR90	lung:	fetal
34	chr8:1197231-1197281	AG04449	skin:	fetal
35	chr8:1197231-1197281	PANC-1	pancreas:	n/a
36	chr8:1197231-1197281	HAEpiC	amniotic membrane:	n/a
37	chr8:1197231-1197281	HRPEpiC	eye:	n/a
38	chr8:1197231-1197281	HRE	kidney:	n/a
39	chr8:1197231-1197281	H1-hESC	embryonic stem cell:	embryo
40	chr8:1197231-1197281	HCPEpiC	choroid plexus:	n/a
41	chr8:1197231-1197281	AG10803	skin:	n/a
42	chr8:1197231-1197281	AG09319	gingival:	n/a
43	chr8:1197231-1197281	HMEC	breast:	n/a
44	chr8:1197231-1197281	SK-N-MC	brain:	n/a
45	chr8:1197231-1197281	HEK293	kidney:	embryo
46	chr8:1197231-1197281	ECC-1	luminal epithelium:	n/a
47	chr8:1197231-1197281	GM06990	blood:	n/a
48	chr8:1197231-1197281	HEEpiC	esophagus:	n/a
49	chr8:1197231-1197281	T-47D	breast:	n/a
50	chr8:1197231-1197281	HNPCEpiC	eye:	n/a

No data

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

Extended variants
information (count: 2 )
Associated
traits (count: 113 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374833904	chr8:1197271-1197272	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs36134480	chr8:1197272-1197273	ZNF genes & repeats Weak transcription	TF binding region CpG island	1 gene(s)	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1196800-1197400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:1196800-1197400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:1196800-1197400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
4	chr8:1197000-1197400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
5	chr8:1197000-1197400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:1197000-1197400	ZNF genes & repeats	Pancreas	Pancrea
7	chr8:1197200-1198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:1197200-1199200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:1197200-1201800	Weak transcription	Gastric	stomach

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