Variant report

Variant	esv3478702
Chromosome Location	chr8:1901281-1901561
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	chr8:1900404..1902135-chr8:1904270..1906707,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564393674	chr8:1901290-1901291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs533046519	chr8:1901295-1901296	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184840620	chr8:1901296-1901297	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559870071	chr8:1901307-1901308	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529092361	chr8:1901311-1901312	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs189984073	chr8:1901335-1901336	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568241469	chr8:1901336-1901337	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs537435007	chr8:1901341-1901342	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs55895544	chr8:1901348-1901349	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542159489	chr8:1901359-1901360	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs539696885	chr8:1901366-1901367	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs553711289	chr8:1901367-1901368	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs573466838	chr8:1901385-1901386	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7459826	chr8:1901397-1901398	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs562362446	chr8:1901401-1901402	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs555481752	chr8:1901405-1901406	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs367856665	chr8:1901409-1901410	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs7819046	chr8:1901445-1901446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs112840648	chr8:1901446-1901447	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs7819052	chr8:1901454-1901455	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs544312770	chr8:1901457-1901458	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188913417	chr8:1901458-1901459	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142560473	chr8:1901465-1901466	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7817939	chr8:1901495-1901496	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181909347	chr8:1901507-1901508	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560060680	chr8:1901532-1901533	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs529825258	chr8:1901541-1901542	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs113485004	chr8:1901552-1901553	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	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
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1868000-1902400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
5	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:1884600-1906200	Weak transcription	A549	lung
7	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:1888000-1904800	Weak transcription	HMEC	breast
9	chr8:1889400-1905000	Weak transcription	HSMM	muscle
10	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
11	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:1891200-1906000	Weak transcription	Fetal Heart	heart
13	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:1891800-1906200	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:1892200-1906000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:1894000-1903800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:1894000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:1894200-1904800	Weak transcription	Ovary	ovary
19	chr8:1894200-1905000	Weak transcription	Fetal Intestine Small	intestine
20	chr8:1895200-1904600	Weak transcription	Fetal Lung	lung
21	chr8:1895400-1901600	Weak transcription	NHDF-Ad	bronchial
22	chr8:1895600-1902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:1895600-1904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:1895600-1905600	Weak transcription	NHLF	lung
25	chr8:1895600-1906200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr8:1895600-1907000	Weak transcription	Fetal Intestine Large	intestine
27	chr8:1895800-1901600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:1896600-1904800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:1896800-1905200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:1897200-1902000	Weak transcription	Fetal Brain Female	brain
31	chr8:1897400-1906000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr8:1897600-1901800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:1897600-1906200	Weak transcription	NH-A	brain
34	chr8:1898200-1901600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:1898200-1901800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr8:1898200-1902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:1898200-1905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:1898400-1904800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:1898400-1906000	Weak transcription	HSMMtube	muscle
40	chr8:1898400-1908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:1898600-1901600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:1898600-1901600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:1898600-1901800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr8:1898600-1903400	Weak transcription	Lung	lung
45	chr8:1898600-1903600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:1898600-1903600	Weak transcription	Spleen	Spleen
47	chr8:1898600-1904600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:1898600-1904600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:1898600-1905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:1898600-1905000	Weak transcription	Left Ventricle	heart

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