Variant report

Variant	esv3335953
Chromosome Location	chr8:54529448-54557707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54539383..54541156-chr8:54547912..54549422,2	K562	blood:
2	chr8:54547138..54549363-chr8:54573155..54575642,2	MCF-7	breast:
3	chr8:54539383..54541156-chr8:54547912..54549422,2	K562	blood:
4	chr8:54556956..54558528-chr8:54569373..54571068,2	MCF-7	breast:

Extended variants
information (count: 860 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:860 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111993517	chr8:54529511-54529512	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs182248460	chr8:54529535-54529536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs557276777	chr8:54529547-54529548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541212257	chr8:54529593-54529594	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs561604028	chr8:54529597-54529598	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs377613336	chr8:54529607-54529608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs184423712	chr8:54529616-54529617	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs113058480	chr8:54529619-54529620	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs555308866	chr8:54529633-54529634	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563826426	chr8:54529634-54529635	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs6415673	chr8:54529645-54529646	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs6415674	chr8:54529661-54529662	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145391841	chr8:54529707-54529708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs6415675	chr8:54529719-54529720	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181380271	chr8:54529723-54529724	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs570545752	chr8:54529736-54529737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs147739039	chr8:54529737-54529738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113136483	chr8:54529757-54529758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142660133	chr8:54529772-54529773	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs6473869	chr8:54529787-54529788	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535399053	chr8:54529868-54529869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555630380	chr8:54529893-54529894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563290085	chr8:54529907-54529908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373903622	chr8:54529923-54529924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535001576	chr8:54529929-54529930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557832104	chr8:54529933-54529934	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs6473870	chr8:54529953-54529954	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543897441	chr8:54529954-54529955	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs543289408	chr8:54529961-54529962	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574282732	chr8:54529966-54529967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542981785	chr8:54529984-54529985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs371258833	chr8:54530005-54530006	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560016151	chr8:54530011-54530012	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185697466	chr8:54530031-54530032	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs118093861	chr8:54530035-54530036	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563689083	chr8:54530040-54530041	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190066617	chr8:54530063-54530064	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531485096	chr8:54530087-54530088	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73682504	chr8:54530090-54530091	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569559650	chr8:54530100-54530101	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116615362	chr8:54530101-54530102	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549041447	chr8:54530154-54530155	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565980525	chr8:54530163-54530164	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534568100	chr8:54530164-54530165	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145799915	chr8:54530193-54530194	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181762976	chr8:54530204-54530205	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550740356	chr8:54530228-54530229	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537590785	chr8:54530229-54530230	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557471171	chr8:54530247-54530248	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148982420	chr8:54530249-54530250	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54528400-54530800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr8:54528400-54532000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:54529000-54530400	Weak transcription	Fetal Lung	lung
4	chr8:54529000-54531600	Weak transcription	Pancreas	Pancrea
5	chr8:54529200-54530000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:54529200-54531400	Weak transcription	Fetal Heart	heart
7	chr8:54530000-54530600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:54530000-54532000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:54530200-54531400	Enhancers	Fetal Thymus	thymus
10	chr8:54530400-54530800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:54530400-54531200	Enhancers	Fetal Lung	lung
12	chr8:54530400-54531800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:54530600-54531600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr8:54530600-54531800	Enhancers	Brain Germinal Matrix	brain
15	chr8:54530600-54536000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:54530800-54531000	Enhancers	Brain Hippocampus Middle	brain
17	chr8:54530800-54531200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:54530800-54531400	Enhancers	HUVEC	blood vessel
19	chr8:54530800-54531600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr8:54530800-54531800	Enhancers	Colon Smooth Muscle	Colon
21	chr8:54530800-54531800	Enhancers	Spleen	Spleen
22	chr8:54530800-54532000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:54530800-54532000	Enhancers	Fetal Muscle Leg	muscle
24	chr8:54530800-54532000	Enhancers	Fetal Stomach	stomach
25	chr8:54530800-54532600	Enhancers	Fetal Brain Female	brain
26	chr8:54531000-54531200	Enhancers	Stomach Smooth Muscle	stomach
27	chr8:54531000-54531400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:54531000-54531600	Enhancers	Stomach Mucosa	stomach
29	chr8:54531000-54531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:54531000-54532000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:54531000-54532000	Enhancers	Adipose Nuclei	Adipose
32	chr8:54531000-54532000	Enhancers	Fetal Brain Male	brain
33	chr8:54531200-54531400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:54531200-54531400	Enhancers	NHEK	skin
35	chr8:54531200-54531600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:54531200-54531800	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:54531200-54531800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr8:54531200-54531800	Enhancers	Rectal Smooth Muscle	rectum
39	chr8:54531200-54531800	Enhancers	HMEC	breast
40	chr8:54531200-54532000	Flanking Active TSS	Fetal Lung	lung
41	chr8:54531200-54532000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr8:54531200-54532200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:54531200-54532200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:54531400-54531600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr8:54531400-54531600	Active TSS	Duodenum Mucosa	Duodenum
46	chr8:54531400-54531800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:54531400-54531800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:54531400-54531800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:54531400-54531800	Enhancers	Aorta	Aorta
50	chr8:54531400-54531800	Enhancers	Fetal Muscle Trunk	muscle

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