Variant report

Variant	esv3422371
Chromosome Location	chr8:1895445-1896593
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	chr8:1888469..1891151-chr8:1893688..1896485,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530361208	chr8:1895452-1895453	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs550078039	chr8:1895467-1895468	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs556554651	chr8:1895501-1895502	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs13276575	chr8:1895526-1895527	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190238805	chr8:1895536-1895537	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs551845618	chr8:1895548-1895549	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs193104958	chr8:1895559-1895560	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs36060763	chr8:1895573-1895574	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs534301007	chr8:1895586-1895587	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs548202187	chr8:1895589-1895590	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs184724401	chr8:1895591-1895592	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs188365377	chr8:1895593-1895594	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs555047225	chr8:1895595-1895596	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs180723352	chr8:1895625-1895626	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146087666	chr8:1895634-1895635	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140093592	chr8:1895644-1895645	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548938411	chr8:1895651-1895652	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185249289	chr8:1895686-1895687	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572532745	chr8:1895748-1895749	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541052277	chr8:1895762-1895763	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201986175	chr8:1895784-1895785	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574515376	chr8:1895849-1895850	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543662647	chr8:1895874-1895875	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113014618	chr8:1895875-1895876	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149383697	chr8:1895908-1895909	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115685119	chr8:1895934-1895935	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552765511	chr8:1895949-1895950	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559167898	chr8:1895959-1895960	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6984792	chr8:1896013-1896014	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs144660265	chr8:1896039-1896040	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553717768	chr8:1896071-1896072	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568011986	chr8:1896080-1896081	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537051294	chr8:1896088-1896089	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs73182801	chr8:1896133-1896134	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148510591	chr8:1896141-1896142	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77730540	chr8:1896142-1896143	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536459472	chr8:1896149-1896150	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374941453	chr8:1896155-1896156	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189697612	chr8:1896172-1896173	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372370234	chr8:1896188-1896189	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572968938	chr8:1896189-1896190	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117395523	chr8:1896190-1896191	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536176104	chr8:1896242-1896243	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs574451988	chr8:1896256-1896257	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs543456869	chr8:1896272-1896273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181337691	chr8:1896273-1896274	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs555909652	chr8:1896286-1896287	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs577152800	chr8:1896289-1896290	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs546195415	chr8:1896323-1896324	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs559867311	chr8:1896326-1896327	Strong transcription Weak transcription Enhancers Genic enhancers Flanking 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:146 , 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	chr8:1883000-1896200	Weak transcription	NH-A	brain
6	chr8:1884200-1897000	Weak transcription	Placenta	Placenta
7	chr8:1884400-1904800	Weak transcription	Brain Germinal Matrix	brain
8	chr8:1884600-1898400	Weak transcription	Hela-S3	cervix
9	chr8:1884600-1906200	Weak transcription	A549	lung
10	chr8:1885400-1900000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:1886000-1896400	Weak transcription	HSMMtube	muscle
12	chr8:1886000-1906200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr8:1887800-1898000	Weak transcription	Left Ventricle	heart
14	chr8:1887800-1900400	Weak transcription	Gastric	stomach
15	chr8:1888000-1896000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:1888000-1904800	Weak transcription	HMEC	breast
17	chr8:1888400-1896600	Weak transcription	NHEK	skin
18	chr8:1889000-1896600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:1889400-1896000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:1889400-1905000	Weak transcription	HSMM	muscle
21	chr8:1889400-1910000	Weak transcription	HUVEC	blood vessel
22	chr8:1890000-1896600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:1890000-1911000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:1890200-1897600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr8:1890600-1896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:1891000-1897200	Enhancers	Fetal Brain Male	brain
27	chr8:1891200-1906000	Weak transcription	Fetal Heart	heart
28	chr8:1891400-1897800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:1891600-1898400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:1891600-1907400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:1891800-1896800	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr8:1891800-1906200	Weak transcription	Colon Smooth Muscle	Colon
33	chr8:1892000-1899600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:1892000-1901200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:1892200-1896800	Genic enhancers	Fetal Stomach	stomach
36	chr8:1892200-1906000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:1892400-1899400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:1892400-1900000	Strong transcription	H9 Cell Line	embryonic stem cell
39	chr8:1892400-1901000	Genic enhancers	Fetal Muscle Leg	muscle
40	chr8:1892800-1900000	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:1893000-1898600	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr8:1893200-1896000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:1893200-1896400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:1893200-1896400	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr8:1893200-1897600	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:1893200-1898200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:1893200-1898800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:1893400-1897000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr8:1893400-1898600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr8:1893600-1896200	Weak transcription	Primary monocytes fromperipheralblood	blood

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