Variant report

Variant	esv3377959
Chromosome Location	chr8:49809299-49813497
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	chr8:49796061..49798020-chr8:49808059..49810348,2	K562	blood:
2	chr8:49776108..49777646-chr8:49810328..49812918,2	MCF-7	breast:

Extended variants
information (count: 167 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:167 , 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	rs183656995	chr8:49809317-49809318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556405776	chr8:49809357-49809358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574640552	chr8:49809380-49809381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577679366	chr8:49809410-49809411	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs543145713	chr8:49809449-49809450	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs560361043	chr8:49809540-49809541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs527577616	chr8:49809561-49809562	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545812452	chr8:49809575-49809576	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs368190074	chr8:49809578-49809579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs563728098	chr8:49809585-49809586	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs376795108	chr8:49809589-49809590	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs531314127	chr8:49809607-49809608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35724973	chr8:49809621-49809622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111707823	chr8:49809630-49809631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370733059	chr8:49809651-49809652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568336915	chr8:49809682-49809683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529410668	chr8:49809686-49809687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547657581	chr8:49809687-49809688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75611016	chr8:49809715-49809716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545623707	chr8:49809716-49809717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558175799	chr8:49809720-49809721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372539232	chr8:49809738-49809739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375848835	chr8:49809747-49809748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139237161	chr8:49809818-49809819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187968132	chr8:49809857-49809858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555873222	chr8:49809879-49809880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574701519	chr8:49809936-49809937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542041845	chr8:49809945-49809946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553664960	chr8:49809947-49809948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572353589	chr8:49809955-49809956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545737468	chr8:49809958-49809959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370156691	chr8:49809964-49809965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116259419	chr8:49809976-49809977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572884850	chr8:49809981-49809982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543126226	chr8:49809982-49809983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573941351	chr8:49809986-49809987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561478022	chr8:49810000-49810001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540212408	chr8:49810043-49810044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112468330	chr8:49810064-49810065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555114935	chr8:49810148-49810149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142606234	chr8:49810203-49810204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533689005	chr8:49810230-49810231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181955030	chr8:49810234-49810235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570090358	chr8:49810274-49810275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542902968	chr8:49810298-49810299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377238360	chr8:49810340-49810341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150996173	chr8:49810341-49810342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549383591	chr8:49810349-49810350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186123666	chr8:49810362-49810363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534805501	chr8:49810395-49810396	Weak transcription Enhancers	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
Lung cancer	18438408	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
Pancreatic endocrine tumor	17639061	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
low-grade B-cell lymphoma tumor	18367492	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
small cell lung cancer	20016488	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
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49802000-49809400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:49802000-49814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:49804200-49811200	Weak transcription	Fetal Kidney	kidney
4	chr8:49804600-49811400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:49804800-49811600	Weak transcription	HMEC	breast
6	chr8:49805000-49811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:49805400-49809400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:49805600-49811400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:49805600-49811600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:49805800-49810600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:49807200-49811800	Weak transcription	NHDF-Ad	bronchial
12	chr8:49807600-49812000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:49808800-49809800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:49808800-49818600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr8:49809400-49809600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr8:49809400-49809800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr8:49809400-49809800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:49809400-49810200	Enhancers	Hela-S3	cervix
19	chr8:49809400-49817800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:49809600-49809800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:49809600-49809800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr8:49809800-49811400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:49809800-49811800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:49809800-49814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:49810000-49810400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr8:49810000-49814800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:49810200-49810400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:49810200-49810600	Enhancers	Psoas Muscle	Psoas
29	chr8:49810200-49810600	Enhancers	Right Ventricle	heart
30	chr8:49810200-49810800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr8:49810200-49811400	Weak transcription	Hela-S3	cervix
32	chr8:49810400-49810600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:49810400-49810600	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:49810400-49810600	Enhancers	Fetal Muscle Leg	muscle
35	chr8:49810400-49811400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:49810400-49811800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:49810600-49810800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:49810600-49811600	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:49810600-49811800	Weak transcription	Psoas Muscle	Psoas
40	chr8:49810600-49813000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:49810800-49811200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:49810800-49811200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:49810800-49811600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:49810800-49811800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:49811200-49811600	ZNF genes & repeats	Fetal Kidney	kidney
46	chr8:49811200-49812400	Enhancers	Fetal Heart	heart
47	chr8:49811200-49812600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:49811200-49812600	Enhancers	Fetal Muscle Trunk	muscle
49	chr8:49811400-49811600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:49811400-49811600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon

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