Variant report

Variant	esv995663
Chromosome Location	chr8:9495365-9501901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:9494330..9496133-chr8:9501405..9503698,2	K562	blood:
2	chr8:9408610..9410129-chr8:9497260..9499270,2	K562	blood:
3	chr8:9491095..9493822-chr8:9498438..9500490,2	K562	blood:
4	chr8:9408610..9410364-chr8:9497260..9500179,3	K562	blood:
5	chr8:9478144..9480144-chr8:9497689..9499942,2	K562	blood:
6	chr8:9494330..9496133-chr8:9501405..9503698,2	K562	blood:

Extended variants
information (count: 256 )
Associated
traits (count: 144 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573164003	chr8:9495399-9495400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182285824	chr8:9495423-9495424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573600349	chr8:9495424-9495425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542158253	chr8:9495465-9495466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186221602	chr8:9495494-9495495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114830419	chr8:9495510-9495511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139340880	chr8:9495522-9495523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543562154	chr8:9495529-9495530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563436197	chr8:9495536-9495537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569612203	chr8:9495624-9495625	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532002588	chr8:9495633-9495634	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs10104653	chr8:9495637-9495638	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs564776346	chr8:9495683-9495684	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs191890565	chr8:9495713-9495714	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144318936	chr8:9495727-9495728	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553866006	chr8:9495734-9495735	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183938126	chr8:9495750-9495751	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4240627	chr8:9495766-9495767	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4240628	chr8:9495786-9495787	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575937497	chr8:9495791-9495792	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs146570609	chr8:9495804-9495805	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs576995758	chr8:9495819-9495820	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141253671	chr8:9495847-9495848	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs143579074	chr8:9495880-9495881	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs373950079	chr8:9495914-9495915	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs201463756	chr8:9495926-9495927	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs546055039	chr8:9495941-9495942	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs199592160	chr8:9495947-9495948	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs116108373	chr8:9495949-9495950	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs559433608	chr8:9495970-9495971	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145676530	chr8:9495974-9495975	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs113932748	chr8:9495976-9495977	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs577409582	chr8:9495980-9495981	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs114656262	chr8:9495988-9495989	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562823764	chr8:9496007-9496008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188832103	chr8:9496011-9496012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148904289	chr8:9496015-9496016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562228595	chr8:9496030-9496031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4841187	chr8:9496049-9496050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13275502	chr8:9496118-9496119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs570566425	chr8:9496132-9496133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539102980	chr8:9496133-9496134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549367135	chr8:9496138-9496139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566724382	chr8:9496204-9496205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535374771	chr8:9496276-9496277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191908962	chr8:9496308-9496309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79101529	chr8:9496335-9496336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs13268770	chr8:9496357-9496358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs34638238	chr8:9496366-9496367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538032909	chr8:9496380-9496381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:144)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9474200-9509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:9481000-9510800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:9481200-9508400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:9481800-9501400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:9484800-9504600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:9485000-9502800	Weak transcription	Psoas Muscle	Psoas
7	chr8:9485600-9498200	Weak transcription	Ovary	ovary
8	chr8:9485600-9510400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:9485600-9510400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:9485800-9508000	Weak transcription	Fetal Brain Female	brain
11	chr8:9486400-9502800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:9487200-9500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:9487400-9509000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr8:9487800-9508400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr8:9491200-9502800	Weak transcription	Aorta	Aorta
16	chr8:9491400-9504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:9491400-9507800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:9491400-9509000	Weak transcription	HSMM	muscle
19	chr8:9492200-9508000	Weak transcription	NH-A	brain
20	chr8:9492400-9495600	Weak transcription	NHDF-Ad	bronchial
21	chr8:9492400-9507800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:9493600-9509000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:9494400-9510400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:9494600-9510600	Weak transcription	Fetal Kidney	kidney
25	chr8:9495000-9495400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:9495200-9499200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr8:9495200-9501200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:9495400-9496000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr8:9495600-9495800	Enhancers	Gastric	stomach
30	chr8:9495600-9496000	Active TSS	NHDF-Ad	bronchial
31	chr8:9495800-9531000	Weak transcription	Gastric	stomach
32	chr8:9496800-9502600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:9498200-9498400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:9498200-9498600	Enhancers	Ovary	ovary
35	chr8:9498200-9498800	Enhancers	K562	blood
36	chr8:9498400-9505200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:9498600-9501400	Weak transcription	Ovary	ovary
38	chr8:9498800-9499200	Weak transcription	K562	blood
39	chr8:9499200-9499800	Enhancers	Rectal Smooth Muscle	rectum
40	chr8:9499200-9499800	Enhancers	K562	blood
41	chr8:9499200-9500000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr8:9499600-9499800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr8:9499600-9499800	Enhancers	NHEK	skin
44	chr8:9499600-9500000	Enhancers	Osteobl	bone
45	chr8:9499800-9500200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:9499800-9500800	Weak transcription	K562	blood
47	chr8:9499800-9502600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr8:9499800-9505000	Weak transcription	NHEK	skin
49	chr8:9499800-9510400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:9499800-9512400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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