Variant report

Variant	nsv609498
Chromosome Location	chr8:1083364-1117739
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

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

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXO25-5	chr8:1087299-1087777	NR_073397
2	lnc-FBXO25-5	chr8:1087299-1087777	ENSG00000237647
3	lnc-FBXO25-5	chr8:1087299-1087777	NONHSAT124629

No data

Extended variants
information (count: 2058 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:2058 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1451882	chr8:1083364-1083365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190391516	chr8:1083371-1083372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573530241	chr8:1083393-1083394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536066260	chr8:1083400-1083401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369185236	chr8:1083409-1083410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533996426	chr8:1083437-1083438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549163226	chr8:1083442-1083443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575909479	chr8:1083444-1083445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544747136	chr8:1083479-1083480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181746799	chr8:1083491-1083492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112604350	chr8:1083525-1083526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540571986	chr8:1083544-1083545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186067048	chr8:1083595-1083596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386720559	chr8:1083604-1083605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528408262	chr8:1083634-1083635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374698779	chr8:1083655-1083656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140233573	chr8:1083715-1083716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548073685	chr8:1083733-1083734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190985558	chr8:1083736-1083737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530602771	chr8:1083764-1083765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34382202	chr8:1083786-1083787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114988560	chr8:1083797-1083798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10866917	chr8:1083803-1083804	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs79394581	chr8:1083819-1083820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111648347	chr8:1083830-1083831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566467122	chr8:1083832-1083833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536201683	chr8:1083862-1083863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182100867	chr8:1083874-1083875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575945229	chr8:1083895-1083896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113951583	chr8:1083913-1083914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538403007	chr8:1083915-1083916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557994659	chr8:1083933-1083934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578013933	chr8:1083964-1083965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555809529	chr8:1083991-1083992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185216545	chr8:1084000-1084001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568112731	chr8:1084044-1084045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573675605	chr8:1084059-1084060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541755020	chr8:1084069-1084070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561615306	chr8:1084070-1084071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530640072	chr8:1084083-1084084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550704690	chr8:1084111-1084112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577233994	chr8:1084139-1084140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538204231	chr8:1084210-1084211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564036133	chr8:1084216-1084217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150285144	chr8:1084232-1084233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546375156	chr8:1084238-1084239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10112424	chr8:1084288-1084289	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs111893685	chr8:1084292-1084293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191103963	chr8:1084297-1084298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183454216	chr8:1084298-1084299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1077000-1084200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:1080600-1083800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:1080800-1083800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:1080800-1083800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:1081200-1083800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr8:1081800-1085600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:1083000-1083800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:1083000-1084000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:1083200-1086200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:1083200-1087000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:1083800-1084800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:1083800-1084800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:1083800-1085600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:1084200-1084400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:1084400-1085600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:1084600-1084800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr8:1084800-1085200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:1084800-1086200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:1085600-1085800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:1085600-1086200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr8:1085600-1086200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr8:1085800-1086200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:1086200-1086600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr8:1086200-1086800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:1086400-1086800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:1086600-1087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:1087000-1089800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:1088000-1089600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:1088000-1089600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr8:1088000-1089600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:1089000-1089800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:1089200-1089600	ZNF genes & repeats	Liver	Liver
33	chr8:1089200-1090000	ZNF genes & repeats	Pancreas	Pancrea
34	chr8:1089600-1092600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:1089800-1092800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:1090600-1091200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:1092400-1092600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:1092600-1092800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:1092600-1093800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:1092600-1110000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:1092800-1093600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:1093000-1093800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:1093800-1094000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:1093800-1094000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr8:1093800-1094200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:1094000-1096400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:1094200-1094400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:1094400-1094800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:1094600-1094800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:1094600-1095000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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