Variant report

Variant	esv1798473
Chromosome Location	chr8:6385839-6391304
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	chr8:6386091..6387814-chr8:6394957..6397917,2	K562	blood:

Extended variants
information (count: 372 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2515464	chr8:6385839-6385840	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140913240	chr8:6385858-6385859	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2515465	chr8:6385862-6385863	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs539842771	chr8:6385864-6385865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560132641	chr8:6385902-6385903	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149775846	chr8:6385905-6385906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573653199	chr8:6385923-6385924	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145603293	chr8:6385936-6385937	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562314003	chr8:6385947-6385948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138863557	chr8:6386013-6386014	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs371338591	chr8:6386021-6386022	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532029544	chr8:6386036-6386037	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531418371	chr8:6386053-6386054	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs187099794	chr8:6386065-6386066	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562018270	chr8:6386067-6386068	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs533921135	chr8:6386073-6386074	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547467772	chr8:6386090-6386091	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192254578	chr8:6386095-6386096	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs74344164	chr8:6386110-6386111	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs550519290	chr8:6386111-6386112	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs2922887	chr8:6386127-6386128	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs140388548	chr8:6386131-6386132	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145603745	chr8:6386132-6386133	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574437065	chr8:6386139-6386140	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs138022360	chr8:6386148-6386149	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs553440883	chr8:6386162-6386163	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs141013359	chr8:6386169-6386170	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs545658131	chr8:6386173-6386174	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs562425494	chr8:6386174-6386175	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs575957950	chr8:6386188-6386189	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78177277	chr8:6386201-6386202	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs6990020	chr8:6386204-6386205	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs527744412	chr8:6386247-6386248	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs3824310	chr8:6386250-6386251	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs564448839	chr8:6386284-6386285	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs2515466	chr8:6386286-6386287	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550234634	chr8:6386293-6386294	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182867102	chr8:6386303-6386304	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs528479806	chr8:6386313-6386314	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs144637336	chr8:6386325-6386326	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs148224907	chr8:6386331-6386332	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141137144	chr8:6386338-6386339	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs187934140	chr8:6386351-6386352	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs375977915	chr8:6386354-6386355	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2515467	chr8:6386358-6386359	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs80049401	chr8:6386372-6386373	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs193293890	chr8:6386373-6386374	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs575923043	chr8:6386379-6386380	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374737156	chr8:6386395-6386396	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs150713936	chr8:6386399-6386400	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	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:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6338800-6389600	Weak transcription	HSMMtube	muscle
2	chr8:6342400-6421400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr8:6345800-6402400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:6346200-6386000	Weak transcription	NH-A	brain
5	chr8:6352400-6391400	Weak transcription	Ovary	ovary
6	chr8:6357800-6391400	Weak transcription	Colonic Mucosa	Colon
7	chr8:6359200-6389200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:6360400-6386200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:6361200-6386000	Weak transcription	Fetal Intestine Large	intestine
10	chr8:6364200-6417200	Weak transcription	Fetal Kidney	kidney
11	chr8:6364200-6478200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:6366800-6389800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr8:6367200-6417000	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:6367400-6389200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:6368800-6392200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:6370200-6400800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:6370400-6386000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:6370400-6389200	Weak transcription	Osteobl	bone
19	chr8:6370400-6391200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr8:6370400-6400200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:6370400-6402600	Weak transcription	GM12878-XiMat	blood
22	chr8:6370400-6403000	Weak transcription	Primary B cells from cord blood	blood
23	chr8:6370400-6405000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:6373200-6390200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:6373600-6386000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:6373600-6386200	Weak transcription	Primary T cells from cord blood	blood
27	chr8:6373600-6391400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr8:6373600-6420200	Weak transcription	Esophagus	oesophagus
29	chr8:6373800-6390800	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:6374800-6390400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:6374800-6408800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:6375000-6388400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:6375200-6404400	Weak transcription	NHEK	skin
34	chr8:6375800-6386200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:6377000-6386000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:6377000-6398200	Weak transcription	Spleen	Spleen
37	chr8:6377200-6386000	Weak transcription	Pancreas	Pancrea
38	chr8:6377400-6386000	Weak transcription	Dnd41	blood
39	chr8:6377400-6388200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:6377400-6388800	Weak transcription	Right Ventricle	heart
41	chr8:6377400-6389800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:6377400-6396000	Weak transcription	Aorta	Aorta
43	chr8:6377400-6398000	Weak transcription	Left Ventricle	heart
44	chr8:6377400-6398600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:6377400-6400800	Weak transcription	Thymus	Thymus
46	chr8:6377400-6405600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:6377400-6414600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:6377600-6389800	Weak transcription	Gastric	stomach
49	chr8:6377600-6390000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:6377600-6390800	Weak transcription	Fetal Stomach	stomach

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