Variant report

Variant	esv3328392
Chromosome Location	chr8:35697860-35700158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375189368	chr8:35699010-35699011	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561657536	chr8:35699021-35699022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs531186381	chr8:35699028-35699029	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs543412392	chr8:35699065-35699066	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149397492	chr8:35699067-35699068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549306300	chr8:35699116-35699117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs13266246	chr8:35699123-35699124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs564624888	chr8:35699173-35699174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547563478	chr8:35699214-35699215	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565872454	chr8:35699222-35699223	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529934585	chr8:35699272-35699273	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144803773	chr8:35699304-35699305	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567578284	chr8:35699307-35699308	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs374140059	chr8:35699320-35699321	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534699201	chr8:35699354-35699355	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549726494	chr8:35699364-35699365	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs185423541	chr8:35699404-35699405	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs538741793	chr8:35699416-35699417	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs79505281	chr8:35699417-35699418	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190278543	chr8:35699439-35699440	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs536878318	chr8:35699442-35699443	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554886226	chr8:35699493-35699494	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576640876	chr8:35699555-35699556	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs7815881	chr8:35699604-35699605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138856221	chr8:35699626-35699627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181480680	chr8:35699695-35699696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577956629	chr8:35699699-35699700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576956549	chr8:35699756-35699757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541112533	chr8:35699776-35699777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145667247	chr8:35700014-35700015	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1595206	chr8:35700016-35700017	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs147235242	chr8:35700154-35700155	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
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
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
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	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
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35699000-35699400	ZNF genes & repeats	Pancreas	Pancrea
2	chr8:35699000-35699600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:35699200-35699600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:35699400-35699600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:35699600-35700000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr8:35700000-35700400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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