Variant report

Variant	esv17001
Chromosome Location	chr8:1938559-1939424
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	chr8:1939104..1942044-chr8:1945221..1947708,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575209113	chr8:1938563-1938564	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs544217176	chr8:1938564-1938565	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs35988668	chr8:1938570-1938571	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs564414740	chr8:1938578-1938579	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs112919550	chr8:1938581-1938582	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs533489954	chr8:1938591-1938592	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs540415257	chr8:1938596-1938597	Enhancers Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs560694090	chr8:1938601-1938602	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34766742	chr8:1938603-1938604	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35727032	chr8:1938610-1938611	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113635460	chr8:1938614-1938615	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529466339	chr8:1938615-1938616	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35484205	chr8:1938636-1938637	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111705385	chr8:1938643-1938644	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34888896	chr8:1938647-1938648	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549032908	chr8:1938648-1938649	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568875565	chr8:1938662-1938663	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34048848	chr8:1938669-1938670	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113942146	chr8:1938676-1938677	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs36020330	chr8:1938680-1938681	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34408624	chr8:1938702-1938703	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79953721	chr8:1938709-1938710	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111646946	chr8:1938713-1938714	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34776590	chr8:1938735-1938736	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549738333	chr8:1938738-1938739	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35167085	chr8:1938742-1938743	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112817443	chr8:1938746-1938747	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35631128	chr8:1938768-1938769	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113908849	chr8:1938774-1938775	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34173823	chr8:1938775-1938776	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551424647	chr8:1938794-1938795	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79661776	chr8:1938801-1938802	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35240344	chr8:1938808-1938809	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35005447	chr8:1938812-1938813	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75903074	chr8:1938845-1938846	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534122434	chr8:1938846-1938847	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76866639	chr8:1938867-1938868	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377273464	chr8:1938874-1938875	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77619818	chr8:1938907-1938908	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569019841	chr8:1938973-1938974	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34238910	chr8:1939039-1939040	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34181347	chr8:1939043-1939044	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373344820	chr8:1939060-1939061	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377463108	chr8:1939065-1939066	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370255215	chr8:1939071-1939072	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34830204	chr8:1939072-1939073	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112199996	chr8:1939076-1939077	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78174787	chr8:1939098-1939099	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34959765	chr8:1939105-1939106	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113172655	chr8:1939137-1939138	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1923800-1939800	Weak transcription	Colonic Mucosa	Colon
2	chr8:1924000-1939600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:1924400-1939200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:1929200-1939400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:1929200-1940200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:1929400-1940000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:1929400-1947800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:1930000-1939800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:1930800-1939800	Weak transcription	Fetal Intestine Large	intestine
10	chr8:1931400-1940000	Weak transcription	Primary T cells from cord blood	blood
11	chr8:1931600-1939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:1931800-1939400	Weak transcription	Lung	lung
13	chr8:1931800-1939600	Weak transcription	Right Ventricle	heart
14	chr8:1931800-1948800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:1932000-1939800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:1933600-1939200	Weak transcription	Pancreas	Pancrea
17	chr8:1933800-1945200	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:1934000-1948800	Weak transcription	Fetal Brain Male	brain
19	chr8:1934400-1939400	Weak transcription	Fetal Brain Female	brain
20	chr8:1934600-1948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:1934600-1948800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:1936800-1939600	Strong transcription	Fetal Intestine Small	intestine
23	chr8:1936800-1942200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:1937000-1940400	Weak transcription	HSMM	muscle
25	chr8:1937200-1938600	Enhancers	Osteobl	bone
26	chr8:1937200-1940400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:1937400-1938600	Enhancers	NH-A	brain
28	chr8:1937600-1938600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:1937600-1938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:1937600-1940800	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:1937800-1938600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:1937800-1938800	Enhancers	Spleen	Spleen
33	chr8:1938000-1939200	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:1938000-1939200	Weak transcription	Thymus	Thymus
35	chr8:1938000-1939400	Weak transcription	Brain Anterior Caudate	brain
36	chr8:1938000-1939800	Weak transcription	Brain Angular Gyrus	brain
37	chr8:1938000-1940200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:1938000-1945800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:1938000-1948400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:1938000-1948600	Weak transcription	Right Atrium	heart
41	chr8:1938200-1938600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr8:1938200-1939400	Weak transcription	Brain Substantia Nigra	brain
43	chr8:1938200-1939400	Weak transcription	Fetal Thymus	thymus
44	chr8:1938200-1941800	Weak transcription	HSMMtube	muscle
45	chr8:1938200-1942000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:1938400-1940200	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr8:1938400-1941000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:1938400-1941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:1938400-1941800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:1938600-1939600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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