Variant report

Variant	esv2761402
Chromosome Location	chr8:5864854-5873093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 559 )
Associated
traits (count: 126 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10108017	chr8:5864854-5864855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2703206	chr8:5864890-5864891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2703207	chr8:5864896-5864897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147459611	chr8:5864917-5864918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148468965	chr8:5864918-5864919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182875545	chr8:5864926-5864927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1834201	chr8:5864927-5864928	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs374897356	chr8:5864948-5864949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2840409	chr8:5864951-5864952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116127431	chr8:5864960-5864961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533792970	chr8:5864990-5864991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141784460	chr8:5865025-5865026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572363336	chr8:5865041-5865042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs118054759	chr8:5865060-5865061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2552253	chr8:5865072-5865073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116488031	chr8:5865120-5865121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116007204	chr8:5865125-5865126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551659538	chr8:5865163-5865164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542182694	chr8:5865164-5865165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74569969	chr8:5865177-5865178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529282850	chr8:5865178-5865179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116364082	chr8:5865180-5865181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139559916	chr8:5865231-5865232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2703208	chr8:5865240-5865241	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143403535	chr8:5865299-5865300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186022192	chr8:5865303-5865304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536781817	chr8:5865381-5865382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372835768	chr8:5865390-5865391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567197172	chr8:5865433-5865434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534603826	chr8:5865446-5865447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2703209	chr8:5865460-5865461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572426543	chr8:5865509-5865510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201896977	chr8:5865527-5865528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34633303	chr8:5865530-5865531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369263488	chr8:5865547-5865548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190535052	chr8:5865560-5865561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567783522	chr8:5865620-5865621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146686067	chr8:5865639-5865640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139211407	chr8:5865649-5865650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34090429	chr8:5865682-5865683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374967597	chr8:5865687-5865688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs398112146	chr8:5865690-5865691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374913183	chr8:5865691-5865692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549208851	chr8:5865698-5865699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183864127	chr8:5865699-5865700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541421404	chr8:5865727-5865728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188858021	chr8:5865735-5865736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2703210	chr8:5865771-5865772	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2703211	chr8:5865777-5865778	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs569895337	chr8:5865779-5865780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:126)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5863000-5870200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:5865600-5866200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:5865600-5866200	Enhancers	Fetal Heart	heart
4	chr8:5865600-5866200	Enhancers	Hela-S3	cervix
5	chr8:5865800-5866200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:5865800-5866200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:5866000-5866200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:5866200-5875000	Weak transcription	Hela-S3	cervix
9	chr8:5866600-5869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:5869400-5870400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:5870200-5870400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:5871200-5871600	Enhancers	NHEK	skin
13	chr8:5871400-5871600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:5871600-5872200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:5871600-5875000	Weak transcription	NHEK	skin
16	chr8:5872200-5872400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:5872400-5875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:5872800-5874000	Enhancers	Fetal Brain Male	brain

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