Variant report

Variant	nsv889692
Chromosome Location	chr8:1089766-1178457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1123513..1126337-chr8:1142683..1145446,2	K562	blood:
2	chr8:1100497..1102716-chr8:1106130..1107719,2	K562	blood:
3	chr8:1100497..1102716-chr8:1106130..1107719,2	K562	blood:
4	chr8:1100395..1102279-chr8:1115435..1117687,2	K562	blood:
5	chr8:1100395..1102279-chr8:1115435..1117687,2	K562	blood:
6	chr8:1123513..1126337-chr8:1142683..1145446,2	K562	blood:

Extended variants
information (count: 4831 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:4831 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10104725	chr8:1089766-1089767	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs541970695	chr8:1089770-1089771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs547662375	chr8:1089774-1089775	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs190476061	chr8:1089780-1089781	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs148609867	chr8:1089808-1089809	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563329385	chr8:1089821-1089822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs575911890	chr8:1089836-1089837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs142139135	chr8:1089839-1089840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs374893680	chr8:1089840-1089841	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs538330734	chr8:1089850-1089851	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs147799884	chr8:1089851-1089852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs141192013	chr8:1089852-1089853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs386720563	chr8:1089891-1089892	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113636891	chr8:1089892-1089893	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs75265730	chr8:1089893-1089894	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs117110861	chr8:1089925-1089926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547751353	chr8:1089947-1089948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188938019	chr8:1089968-1089969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs115363625	chr8:1090022-1090023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559828214	chr8:1090027-1090028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201455711	chr8:1090049-1090050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558374424	chr8:1090059-1090060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192020017	chr8:1090099-1090100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547379946	chr8:1090105-1090106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561208669	chr8:1090111-1090112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17668480	chr8:1090144-1090145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569768518	chr8:1090163-1090164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549981656	chr8:1090170-1090171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs76393069	chr8:1090175-1090176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73670651	chr8:1090176-1090177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182774526	chr8:1090179-1090180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565343867	chr8:1090208-1090209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534562434	chr8:1090217-1090218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187693003	chr8:1090221-1090222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575039699	chr8:1090226-1090227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191668245	chr8:1090234-1090235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558951799	chr8:1090261-1090262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370544913	chr8:1090266-1090267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557430185	chr8:1090274-1090275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372641544	chr8:1090284-1090285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184141692	chr8:1090310-1090311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546331476	chr8:1090317-1090318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62487480	chr8:1090327-1090328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76731917	chr8:1090333-1090334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13260497	chr8:1090349-1090350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs542174439	chr8:1090370-1090371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145255759	chr8:1090420-1090421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530030036	chr8:1090423-1090424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140901407	chr8:1090441-1090442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563182926	chr8:1090469-1090470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
Esophageal adenocarcinoma	19417022	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1087000-1089800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:1089000-1089800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:1089200-1090000	ZNF genes & repeats	Pancreas	Pancrea
4	chr8:1089600-1092600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:1089800-1092800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:1090600-1091200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:1092400-1092600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:1092600-1092800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:1092600-1093800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:1092600-1110000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:1092800-1093600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:1093000-1093800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1093800-1094000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:1093800-1094000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr8:1093800-1094200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:1094000-1096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:1094200-1094400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:1094400-1094800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:1094600-1094800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:1094600-1095000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:1094800-1095200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr8:1094800-1095200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr8:1094800-1095400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:1094800-1095600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr8:1094800-1095600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr8:1095000-1095600	Enhancers	Primary hematopoietic stem cells	blood
27	chr8:1095000-1095600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:1095000-1095600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr8:1095000-1095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:1095200-1095600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr8:1095200-1095600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:1095200-1096200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:1096000-1096800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:1096000-1096800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:1096400-1096800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:1096800-1097000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:1096800-1101400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:1099800-1100400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:1100400-1100600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:1100600-1102600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:1101400-1101800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr8:1101600-1102800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:1101800-1104800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1102200-1103200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr8:1102400-1102600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr8:1102400-1104400	Enhancers	Fetal Brain Male	brain
47	chr8:1102600-1102800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr8:1102600-1103000	Enhancers	H9 Cell Line	embryonic stem cell
49	chr8:1102600-1103200	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr8:1102600-1103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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