Variant report

Variant	esv1822901
Chromosome Location	chr8:119207029-119214396
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	8:118988958-118993290..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
2	8:118823602-118831545..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
3	chr8:119209093..119211365-chr8:119212463..119213987,2	K562	blood:
4	8:118911988-118922970..8:119208477-119211356	GM12878	blood:
5	chr8:119209093..119211365-chr8:119212463..119213987,2	K562	blood:
6	8:118847934-118851389..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
7	8:118831545-118831953..8:119208477-119211356	H1-hESC	embryonic stem cell:	embryo
8	8:119208477-119211356..8:119221082-119223921	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	SAMD12	hsa-miR-93-5p	chr8:119209420-119209441
2	SAMD12	hsa-miR-340-5p	chr8:119209423-119209417
3	SAMD12	hsa-miR-93-5p	chr8:119209426-119209419

Extended variants
information (count: 272 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10955863	chr8:119207029-119207030	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374817445	chr8:119207044-119207045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189601693	chr8:119207055-119207056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17507215	chr8:119207071-119207072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs180744815	chr8:119207084-119207085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563892662	chr8:119207090-119207091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531089646	chr8:119207096-119207097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546483797	chr8:119207104-119207105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17484726	chr8:119207115-119207116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12540990	chr8:119207140-119207141	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567704949	chr8:119207161-119207162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11562711	chr8:119207170-119207171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199724298	chr8:119207291-119207292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550233730	chr8:119207315-119207316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4515585	chr8:119207345-119207346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539206355	chr8:119207348-119207349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs17484747	chr8:119207355-119207356	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs4302874	chr8:119207381-119207382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs143454922	chr8:119207386-119207387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185403257	chr8:119207420-119207421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77667272	chr8:119207583-119207584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542356555	chr8:119207604-119207605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557448827	chr8:119207655-119207656	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538581057	chr8:119207735-119207736	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575909764	chr8:119207817-119207818	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs541082863	chr8:119207826-119207827	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs71530896	chr8:119207838-119207839	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs2514981	chr8:119207847-119207848	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs540900777	chr8:119207859-119207860	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs4517152	chr8:119207860-119207861	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs561369942	chr8:119207907-119207908	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs17507236	chr8:119207920-119207921	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs534522028	chr8:119207922-119207923	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs147138005	chr8:119207934-119207935	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2514742	chr8:119207938-119207939	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551320829	chr8:119207964-119207965	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs17484754	chr8:119207971-119207972	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs377337476	chr8:119207978-119207979	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543146215	chr8:119207989-119207990	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs148650991	chr8:119208011-119208012	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549225141	chr8:119208106-119208107	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568472082	chr8:119208120-119208121	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9886406	chr8:119208131-119208132	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557386071	chr8:119208142-119208143	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575846309	chr8:119208191-119208192	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539908469	chr8:119208230-119208231	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142174269	chr8:119208259-119208260	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs558099773	chr8:119208285-119208286	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561226013	chr8:119208298-119208299	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540586080	chr8:119208364-119208365	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119199200-119207600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr8:119199600-119208000	Weak transcription	HSMMtube	muscle
3	chr8:119200000-119207200	Weak transcription	HSMM	muscle
4	chr8:119200000-119207600	Weak transcription	Pancreas	Pancrea
5	chr8:119200800-119218800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:119201400-119209400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:119202600-119207800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:119202600-119207800	Weak transcription	HMEC	breast
9	chr8:119203000-119207600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:119203000-119207600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:119203400-119207800	Weak transcription	NHDF-Ad	bronchial
12	chr8:119203600-119207800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:119203800-119207400	Weak transcription	Aorta	Aorta
14	chr8:119203800-119207600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119203800-119207600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:119203800-119207800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:119203800-119207800	Weak transcription	Osteobl	bone
18	chr8:119203800-119215200	Weak transcription	Liver	Liver
19	chr8:119204600-119208400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:119205400-119207800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:119206000-119207600	Weak transcription	Fetal Intestine Small	intestine
22	chr8:119206200-119212200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:119206400-119214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:119206600-119209000	Weak transcription	Fetal Intestine Large	intestine
25	chr8:119206600-119214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:119206800-119208000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:119206800-119209200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:119206800-119210200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:119206800-119210200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:119207000-119208000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:119207000-119208400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:119207000-119208400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr8:119207000-119209800	Enhancers	NH-A	brain
34	chr8:119207200-119210000	Enhancers	HSMM	muscle
35	chr8:119207400-119209000	Enhancers	Aorta	Aorta
36	chr8:119207600-119207800	Enhancers	Lung	lung
37	chr8:119207600-119207800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr8:119207600-119208400	Strong transcription	Fetal Intestine Small	intestine
39	chr8:119207600-119208400	Strong transcription	Pancreas	Pancrea
40	chr8:119207600-119208400	Enhancers	Stomach Smooth Muscle	stomach
41	chr8:119207600-119208400	Enhancers	Spleen	Spleen
42	chr8:119207600-119208800	Enhancers	GM12878-XiMat	blood
43	chr8:119207600-119209000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:119207600-119209200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:119207600-119209400	Enhancers	HUVEC	blood vessel
46	chr8:119207600-119210200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:119207600-119210400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:119207800-119208200	Enhancers	Right Ventricle	heart
49	chr8:119207800-119208400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr8:119207800-119208400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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