Variant report

Variant	esv3478708
Chromosome Location	chr8:1939682-1942463
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: 188 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs375698583	chr8:1939686-1939687	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545689700	chr8:1939698-1939699	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs545083503	chr8:1939699-1939700	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs527249734	chr8:1939703-1939704	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140858756	chr8:1939725-1939726	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs561217032	chr8:1939758-1939759	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs529993277	chr8:1939766-1939767	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73538631	chr8:1939779-1939780	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150179840	chr8:1939819-1939820	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs193237006	chr8:1939828-1939829	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs551434485	chr8:1939829-1939830	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs571436334	chr8:1939847-1939848	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs57121067	chr8:1939851-1939852	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs369750457	chr8:1939853-1939854	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs533809858	chr8:1939854-1939855	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs559341229	chr8:1939859-1939860	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs534183784	chr8:1939862-1939863	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs182721901	chr8:1939874-1939875	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs577705240	chr8:1939932-1939933	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs536497427	chr8:1939944-1939945	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs375312966	chr8:1939952-1939953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138584304	chr8:1939953-1939954	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564950124	chr8:1939970-1939971	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs149307494	chr8:1939978-1939979	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548956244	chr8:1939979-1939980	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560677047	chr8:1940007-1940008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529704580	chr8:1940011-1940012	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146085663	chr8:1940019-1940020	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540258591	chr8:1940083-1940084	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138846727	chr8:1940085-1940086	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551988277	chr8:1940088-1940089	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187847251	chr8:1940089-1940090	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192706041	chr8:1940107-1940108	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183824912	chr8:1940112-1940113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189032041	chr8:1940114-1940115	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192224617	chr8:1940136-1940137	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567567867	chr8:1940139-1940140	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570388537	chr8:1940141-1940142	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543959600	chr8:1940145-1940146	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542415107	chr8:1940146-1940147	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557388573	chr8:1940171-1940172	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13278963	chr8:1940238-1940239	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs79590429	chr8:1940239-1940240	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572606664	chr8:1940254-1940255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs540731459	chr8:1940256-1940257	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs184285329	chr8:1940270-1940271	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574324826	chr8:1940283-1940284	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs545911213	chr8:1940311-1940312	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs543044150	chr8:1940358-1940359	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs563227326	chr8:1940385-1940386	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	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:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1923800-1939800	Weak transcription	Colonic Mucosa	Colon
2	chr8:1929200-1940200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr8:1929400-1940000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:1929400-1947800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:1930000-1939800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:1930800-1939800	Weak transcription	Fetal Intestine Large	intestine
7	chr8:1931400-1940000	Weak transcription	Primary T cells from cord blood	blood
8	chr8:1931800-1948800	Weak transcription	Brain Germinal Matrix	brain
9	chr8:1932000-1939800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:1933800-1945200	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:1934000-1948800	Weak transcription	Fetal Brain Male	brain
12	chr8:1934600-1948600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1934600-1948800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:1936800-1942200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr8:1937000-1940400	Weak transcription	HSMM	muscle
16	chr8:1937200-1940400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:1937600-1940800	Enhancers	Primary hematopoietic stem cells	blood
18	chr8:1938000-1939800	Weak transcription	Brain Angular Gyrus	brain
19	chr8:1938000-1940200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:1938000-1945800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:1938000-1948400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:1938000-1948600	Weak transcription	Right Atrium	heart
23	chr8:1938200-1941800	Weak transcription	HSMMtube	muscle
24	chr8:1938200-1942000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:1938400-1940200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr8:1938400-1941000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:1938400-1941800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:1938400-1941800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:1938600-1940200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:1938600-1941200	Weak transcription	Osteobl	bone
31	chr8:1939200-1939800	Enhancers	Duodenum Mucosa	Duodenum
32	chr8:1939200-1940600	Enhancers	Brain Hippocampus Middle	brain
33	chr8:1939200-1940600	Enhancers	Pancreas	Pancrea
34	chr8:1939200-1940600	Enhancers	Spleen	Spleen
35	chr8:1939200-1940800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:1939200-1940800	Enhancers	Thymus	Thymus
37	chr8:1939400-1940000	ZNF genes & repeats	Lung	lung
38	chr8:1939400-1940000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr8:1939400-1940200	Strong transcription	Fetal Brain Female	brain
40	chr8:1939400-1940600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr8:1939400-1940800	Enhancers	Brain Anterior Caudate	brain
42	chr8:1939400-1941600	Enhancers	Fetal Thymus	thymus
43	chr8:1939600-1939800	Weak transcription	Brain Substantia Nigra	brain
44	chr8:1939600-1939800	Enhancers	Right Ventricle	heart
45	chr8:1939600-1940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:1939600-1940200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:1939600-1940400	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr8:1939600-1940600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr8:1939600-1940600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr8:1939600-1940600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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