Variant report

Variant	esv3402271
Chromosome Location	chr8:6362806-6363054
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	chr8:6357189..6359349-chr8:6362649..6365411,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554257480	chr8:6362808-6362809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574476705	chr8:6362809-6362810	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540242064	chr8:6362810-6362811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567846340	chr8:6362813-6362814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560441602	chr8:6362823-6362824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577230343	chr8:6362824-6362825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545643400	chr8:6362827-6362828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562686461	chr8:6362830-6362831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531432279	chr8:6362831-6362832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542304124	chr8:6362832-6362833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192223988	chr8:6362838-6362839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576752803	chr8:6362842-6362843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556583432	chr8:6362843-6362844	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540134558	chr8:6362847-6362848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374456661	chr8:6362870-6362871	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369686444	chr8:6362876-6362877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553342668	chr8:6362883-6362884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547411890	chr8:6362887-6362888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373698283	chr8:6362889-6362890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533663803	chr8:6362902-6362903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573406030	chr8:6362905-6362906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10595687	chr8:6362906-6362907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182938815	chr8:6362917-6362918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550236883	chr8:6362929-6362930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570229852	chr8:6362932-6362933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535710853	chr8:6362934-6362935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188793998	chr8:6362936-6362937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374951044	chr8:6362938-6362939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10108181	chr8:6362945-6362946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553817548	chr8:6362966-6362967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576947177	chr8:6362973-6362974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10093839	chr8:6362993-6362994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542407695	chr8:6362999-6363000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13265524	chr8:6363001-6363002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562252240	chr8:6363002-6363003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546054914	chr8:6363008-6363009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13276324	chr8:6363029-6363030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13276326	chr8:6363031-6363032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35102936	chr8:6363043-6363044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13268756	chr8:6363048-6363049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11786946	chr8:6363053-6363054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541665494	chr8:6363054-6363055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

Disease	PMID	Source
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
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
Epilepsy	22083797	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
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6308000-6372600	Weak transcription	HMEC	breast
2	chr8:6317800-6380200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:6325800-6374400	Weak transcription	K562	blood
4	chr8:6336800-6377600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:6338800-6369600	Weak transcription	Spleen	Spleen
6	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
7	chr8:6340400-6371600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:6340800-6371800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr8:6341000-6372000	Weak transcription	A549	lung
10	chr8:6341000-6375000	Weak transcription	Brain Angular Gyrus	brain
11	chr8:6341200-6369400	Weak transcription	Primary B cells from cord blood	blood
12	chr8:6341200-6371200	Weak transcription	Fetal Brain Female	brain
13	chr8:6341400-6363600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr8:6342400-6365600	Weak transcription	Psoas Muscle	Psoas
15	chr8:6342400-6369600	Weak transcription	NHEK	skin
16	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:6346200-6368600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:6346200-6386000	Weak transcription	NH-A	brain
20	chr8:6348400-6363600	Weak transcription	Liver	Liver
21	chr8:6350600-6369600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:6352000-6375600	Weak transcription	Aorta	Aorta
23	chr8:6352400-6391400	Weak transcription	Ovary	ovary
24	chr8:6352600-6366000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:6352600-6372800	Weak transcription	Brain Substantia Nigra	brain
26	chr8:6354000-6363800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:6354600-6370600	Weak transcription	Small Intestine	intestine
28	chr8:6355600-6372800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr8:6355800-6367400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:6355800-6373000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:6357400-6368600	Strong transcription	Fetal Thymus	thymus
32	chr8:6357600-6366200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
34	chr8:6358200-6363600	Weak transcription	Fetal Kidney	kidney
35	chr8:6358400-6363600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr8:6358400-6366200	Weak transcription	Fetal Lung	lung
37	chr8:6358600-6368000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:6358800-6369800	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:6359000-6374800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr8:6359200-6374000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:6359600-6365600	Weak transcription	Hela-S3	cervix
43	chr8:6359800-6363800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:6360000-6363000	Weak transcription	Fetal Brain Male	brain
45	chr8:6360000-6364200	Strong transcription	Dnd41	blood
46	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:6360600-6373800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:6360800-6371800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:6360800-6383800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:6361000-6363800	Weak transcription	HepG2	liver

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