Variant report

Variant	esv3358387
Chromosome Location	chr8:34262310-34265908
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	chr8:34261445..34263580-chr8:34266386..34268112,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548308007	chr8:34262362-34262363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574891993	chr8:34262387-34262388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200403994	chr8:34262404-34262405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145805369	chr8:34262405-34262406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35273653	chr8:34262414-34262415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373976693	chr8:34262428-34262429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530610158	chr8:34262480-34262481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532146103	chr8:34262505-34262506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185287382	chr8:34262539-34262540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535027488	chr8:34262566-34262567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547239808	chr8:34262579-34262580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2719299	chr8:34262612-34262613	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs535414339	chr8:34262647-34262648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556935747	chr8:34262752-34262753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74384668	chr8:34262767-34262768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73674336	chr8:34262791-34262792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371230690	chr8:34262794-34262795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190022937	chr8:34262864-34262865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2590465	chr8:34262922-34262923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs35952397	chr8:34262940-34262941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559552990	chr8:34262944-34262945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535823821	chr8:34262987-34262988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183209428	chr8:34263008-34263009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112068662	chr8:34263084-34263085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570896839	chr8:34263090-34263091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370218016	chr8:34263101-34263102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140116113	chr8:34263224-34263225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529988923	chr8:34263269-34263270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541886839	chr8:34263281-34263282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538345977	chr8:34263329-34263330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563256718	chr8:34263335-34263336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138266386	chr8:34263369-34263370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112606884	chr8:34263382-34263383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78297160	chr8:34263415-34263416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564542621	chr8:34263417-34263418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566426353	chr8:34263431-34263432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187209178	chr8:34263441-34263442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546982209	chr8:34263446-34263447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149495924	chr8:34263543-34263544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191688384	chr8:34263549-34263550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535738874	chr8:34263574-34263575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2719298	chr8:34263605-34263606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552276786	chr8:34263671-34263672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568890400	chr8:34263848-34263849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1445187	chr8:34263853-34263854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558190373	chr8:34263867-34263868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576967570	chr8:34263917-34263918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6997676	chr8:34263930-34263931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs552882341	chr8:34263949-34263950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4545096	chr8:34263963-34263964	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
T-cell prolymphocytic leukemia	17713554	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:34261200-34269800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:34262000-34262600	Enhancers	Fetal Brain Female	brain

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