Variant report

Variant	esv3422722
Chromosome Location	chr8:34613960-34616958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16882913	chr8:34613967-34613968	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs73671544	chr8:34613977-34613978	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531648930	chr8:34613984-34613985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75109459	chr8:34614047-34614048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569399249	chr8:34614107-34614108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571448612	chr8:34614132-34614133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532355833	chr8:34614151-34614152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs142583032	chr8:34614202-34614203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566729744	chr8:34614236-34614237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533857715	chr8:34614283-34614284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555495388	chr8:34614305-34614306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567349795	chr8:34614367-34614368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181065735	chr8:34614368-34614369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146743372	chr8:34614380-34614381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs151289326	chr8:34614444-34614445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544994673	chr8:34614469-34614470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536797346	chr8:34614472-34614473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186213022	chr8:34614482-34614483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572660195	chr8:34614504-34614505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150315050	chr8:34614556-34614557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1403377	chr8:34614570-34614571	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs531780170	chr8:34614640-34614641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543642287	chr8:34614655-34614656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79274617	chr8:34614670-34614671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568349069	chr8:34614672-34614673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1522854	chr8:34614675-34614676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376835447	chr8:34614676-34614677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1522853	chr8:34614677-34614678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs200470685	chr8:34614679-34614680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565948101	chr8:34614746-34614747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189452043	chr8:34614775-34614776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572661591	chr8:34614804-34614805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs549000617	chr8:34614844-34614845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567604056	chr8:34614872-34614873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538018817	chr8:34614920-34614921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556418105	chr8:34614937-34614938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571331908	chr8:34614946-34614947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142331660	chr8:34614961-34614962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558229865	chr8:34615024-34615025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553682456	chr8:34615113-34615114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576586428	chr8:34615118-34615119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181470484	chr8:34615184-34615185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185763721	chr8:34615198-34615199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191950852	chr8:34615304-34615305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144930162	chr8:34615318-34615319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1403376	chr8:34615323-34615324	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
Breast cancer	21785460	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
Melanoma	20688739	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34611000-34614400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:34613200-34615400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:34613800-34614000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:34614400-34614600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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