Variant report

Variant	esv2445240
Chromosome Location	chr8:105586005-105587338
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532669860	chr8:105586064-105586065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs111463850	chr8:105586109-105586110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563940117	chr8:105586171-105586172	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377555041	chr8:105586180-105586181	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556533173	chr8:105586185-105586186	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs189496875	chr8:105586186-105586187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192114791	chr8:105586191-105586192	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs138673168	chr8:105586198-105586199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs6984085	chr8:105586269-105586270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547621200	chr8:105586341-105586342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149318147	chr8:105586342-105586343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533283197	chr8:105586347-105586348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538886403	chr8:105586394-105586395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143467264	chr8:105586418-105586419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372676824	chr8:105586419-105586420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370073153	chr8:105586420-105586421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145280614	chr8:105586447-105586448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6984152	chr8:105586483-105586484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538235254	chr8:105586484-105586485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556423757	chr8:105586522-105586523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113264423	chr8:105586526-105586527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184710859	chr8:105586600-105586601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7004507	chr8:105586614-105586615	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs188588370	chr8:105586619-105586620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546122801	chr8:105586635-105586636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367886591	chr8:105586646-105586647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181533698	chr8:105586657-105586658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142477429	chr8:105586664-105586665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575998998	chr8:105586693-105586694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186405518	chr8:105586785-105586786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561483148	chr8:105586810-105586811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562184669	chr8:105586833-105586834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541136177	chr8:105586893-105586894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4593510	chr8:105586912-105586913	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs189346681	chr8:105586968-105586969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111262731	chr8:105586983-105586984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74452882	chr8:105587055-105587056	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145954920	chr8:105587107-105587108	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs180874376	chr8:105587115-105587116	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs79788503	chr8:105587135-105587136	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs187224148	chr8:105587142-105587143	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs59216364	chr8:105587168-105587169	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs191056695	chr8:105587208-105587209	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs6468937	chr8:105587257-105587258	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547468729	chr8:105587260-105587261	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs77575435	chr8:105587265-105587266	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182883439	chr8:105587268-105587269	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs4476985	chr8:105587311-105587312	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs576680920	chr8:105587327-105587328	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105566200-105587200	Weak transcription	Left Ventricle	heart
2	chr8:105579800-105587600	Weak transcription	Fetal Heart	heart
3	chr8:105580400-105586200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:105581600-105590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:105581600-105593000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:105581600-105598600	Weak transcription	Osteobl	bone
7	chr8:105584200-105587200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:105584200-105587200	Weak transcription	Fetal Thymus	thymus
9	chr8:105584200-105587200	Weak transcription	Psoas Muscle	Psoas
10	chr8:105584200-105587200	Weak transcription	Thymus	Thymus
11	chr8:105584200-105588000	Weak transcription	Ovary	ovary
12	chr8:105584200-105600000	Weak transcription	Aorta	Aorta
13	chr8:105584600-105587200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:105584600-105587400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:105584600-105598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:105585600-105587400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:105585600-105587400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:105585600-105587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:105585800-105587000	Weak transcription	Dnd41	blood
20	chr8:105585800-105587000	Weak transcription	K562	blood
21	chr8:105585800-105587200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:105586000-105586600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr8:105586000-105587200	Weak transcription	Right Atrium	heart
24	chr8:105586200-105588000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:105586600-105586800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:105587000-105587200	Active TSS	GM12878-XiMat	blood
27	chr8:105587000-105587400	Enhancers	Dnd41	blood
28	chr8:105587000-105587800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:105587000-105588400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr8:105587000-105589200	Enhancers	K562	blood
31	chr8:105587200-105587600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:105587200-105587600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:105587200-105587600	Enhancers	Gastric	stomach
34	chr8:105587200-105587600	Enhancers	Psoas Muscle	Psoas
35	chr8:105587200-105587600	Enhancers	Right Atrium	heart
36	chr8:105587200-105587800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:105587200-105587800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr8:105587200-105587800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:105587200-105587800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:105587200-105588000	Flanking Active TSS	GM12878-XiMat	blood
41	chr8:105587200-105588200	Enhancers	Right Ventricle	heart
42	chr8:105587200-105588400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr8:105587200-105588800	Enhancers	Fetal Thymus	thymus
44	chr8:105587200-105588800	Enhancers	Left Ventricle	heart
45	chr8:105587200-105589000	Enhancers	Thymus	Thymus

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