Variant report

Variant	esv3329718
Chromosome Location	chr8:1903033-1903480
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	chr8:1869392..1872141-chr8:1901807..1903545,2	K562	blood:
2	chr8:1902551..1904412-chr8:1906073..1908055,2	K562	blood:

Variant related genes	Relation type
ENSG00000104728	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574081515	chr8:1903038-1903039	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs187542517	chr8:1903041-1903042	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562755353	chr8:1903046-1903047	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6994044	chr8:1903059-1903060	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs551789570	chr8:1903063-1903064	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190452978	chr8:1903065-1903066	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145571007	chr8:1903078-1903079	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs111552765	chr8:1903094-1903095	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200631061	chr8:1903110-1903111	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79878729	chr8:1903113-1903114	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13258485	chr8:1903126-1903127	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369092538	chr8:1903128-1903129	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535830831	chr8:1903141-1903142	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372463933	chr8:1903149-1903150	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71211531	chr8:1903153-1903154	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs35663003	chr8:1903154-1903155	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145812374	chr8:1903161-1903162	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs112636070	chr8:1903164-1903165	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113790175	chr8:1903169-1903170	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs80153637	chr8:1903176-1903177	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs141726187	chr8:1903177-1903178	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549715845	chr8:1903179-1903180	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74677168	chr8:1903182-1903183	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112305303	chr8:1903190-1903191	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs143705374	chr8:1903193-1903194	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148120692	chr8:1903195-1903196	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113679443	chr8:1903201-1903202	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs58413787	chr8:1903206-1903207	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs113400578	chr8:1903216-1903217	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs61156389	chr8:1903221-1903222	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61475774	chr8:1903229-1903230	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558589308	chr8:1903243-1903244	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374078526	chr8:1903244-1903245	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112410099	chr8:1903253-1903254	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs13258814	chr8:1903257-1903258	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13258816	chr8:1903258-1903259	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs35527689	chr8:1903265-1903266	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112053195	chr8:1903267-1903268	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74349874	chr8:1903272-1903273	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61124288	chr8:1903279-1903280	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112275542	chr8:1903280-1903281	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs60347065	chr8:1903285-1903286	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs61380289	chr8:1903293-1903294	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs60195892	chr8:1903294-1903295	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554291139	chr8:1903302-1903303	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574146243	chr8:1903303-1903304	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs60241342	chr8:1903304-1903305	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6994386	chr8:1903308-1903309	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11384329	chr8:1903315-1903316	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35272881	chr8:1903316-1903317	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1845400-1908000	Weak transcription	Right Atrium	heart
2	chr8:1871600-1907400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:1880800-1906200	Weak transcription	Colonic Mucosa	Colon
4	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
5	chr8:1884600-1906200	Weak transcription	A549	lung
6	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:1888000-1904800	Weak transcription	HMEC	breast
8	chr8:1889400-1905000	Weak transcription	HSMM	muscle
9	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
10	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:1891200-1906000	Weak transcription	Fetal Heart	heart
12	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:1891800-1906200	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:1892200-1906000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr8:1894000-1903800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:1894000-1904800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:1894200-1904800	Weak transcription	Ovary	ovary
18	chr8:1894200-1905000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:1895200-1904600	Weak transcription	Fetal Lung	lung
20	chr8:1895600-1904800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:1895600-1905600	Weak transcription	NHLF	lung
22	chr8:1895600-1906200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:1895600-1907000	Weak transcription	Fetal Intestine Large	intestine
24	chr8:1896600-1904800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:1896800-1905200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr8:1897400-1906000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:1897600-1906200	Weak transcription	NH-A	brain
28	chr8:1898200-1905600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:1898400-1904800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:1898400-1906000	Weak transcription	HSMMtube	muscle
31	chr8:1898400-1908600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:1898600-1903400	Weak transcription	Lung	lung
33	chr8:1898600-1903600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:1898600-1903600	Weak transcription	Spleen	Spleen
35	chr8:1898600-1904600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:1898600-1904600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr8:1898600-1905000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:1898600-1905000	Weak transcription	Left Ventricle	heart
39	chr8:1898600-1905800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:1898800-1906000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr8:1900200-1905600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:1900200-1909000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr8:1900400-1904800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:1901000-1903600	Weak transcription	Aorta	Aorta
45	chr8:1901000-1903800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:1901000-1903800	Weak transcription	Gastric	stomach
47	chr8:1901000-1904000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr8:1901000-1904000	Strong transcription	NHEK	skin
49	chr8:1901000-1904800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:1901000-1904800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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