Variant report

Variant	esv3378155
Chromosome Location	chr8:3211495-3213543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:3208152..3210922-chr8:3213074..3214852,2	K562	blood:

Extended variants
information (count: 182 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs924731	chr8:3211503-3211504	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373393739	chr8:3211526-3211527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528385639	chr8:3211547-3211548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148495559	chr8:3211559-3211560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561419611	chr8:3211566-3211567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573524163	chr8:3211577-3211578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540630442	chr8:3211612-3211613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559307217	chr8:3211614-3211615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532838640	chr8:3211668-3211669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188940299	chr8:3211671-3211672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181606535	chr8:3211683-3211684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530598775	chr8:3211700-3211701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548813127	chr8:3211707-3211708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142999040	chr8:3211715-3211716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534919834	chr8:3211733-3211734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536578906	chr8:3211744-3211745	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185539246	chr8:3211754-3211755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188640549	chr8:3211769-3211770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75167168	chr8:3211771-3211772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557467062	chr8:3211788-3211789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575852612	chr8:3211797-3211798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112050598	chr8:3211806-3211807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555156400	chr8:3211822-3211823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10503205	chr8:3211836-3211837	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4579550	chr8:3211857-3211858	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs7818890	chr8:3211858-3211859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs151113909	chr8:3211872-3211873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369413920	chr8:3211889-3211890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577202201	chr8:3211896-3211897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544633083	chr8:3211902-3211903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552223015	chr8:3211915-3211916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563041432	chr8:3211923-3211924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530561879	chr8:3211930-3211931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542409223	chr8:3211959-3211960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112165623	chr8:3211974-3211975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398112112	chr8:3211979-3211980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11280117	chr8:3211985-3211986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371358659	chr8:3212020-3212021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181455283	chr8:3212021-3212022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528340165	chr8:3212030-3212031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2113351	chr8:3212031-3212032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571591127	chr8:3212094-3212095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185986780	chr8:3212103-3212104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2113350	chr8:3212104-3212105	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190905490	chr8:3212125-3212126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183910418	chr8:3212128-3212129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554839194	chr8:3212137-3212138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567072601	chr8:3212139-3212140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542808769	chr8:3212145-3212146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568166340	chr8:3212147-3212148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	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
Ovarian cancer	22355333	CNVD
Breast cancer	21364760	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3188000-3215600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:3211200-3211800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr8:3211400-3212000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:3211800-3212000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:3213200-3215800	Weak transcription	Brain Anterior Caudate	brain

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