Variant report

Variant	nsv971309
Chromosome Location	chr8:54958017-54960828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:54959860-54959931	Lung_OC	lung:	n/a	n/a
2	FOS	chr8:54960045-54960350	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr8:54960051-54960251	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr8:54960044-54960359	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr8:54960059-54960341	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFF	chr8:54960176-54960253	K562	blood:	n/a	n/a
7	MAFK	chr8:54960165-54960259	HepG2	liver:	n/a	chr8:54960193-54960208
8	MAFK	chr8:54960175-54960240	HepG2	liver:	n/a	chr8:54960193-54960208
9	POLR2A	chr8:54960684-54963128	K562	blood:	n/a	n/a
10	POLR2A	chr8:54954101-54958288	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54955513..54957737-chr8:54960707..54962521,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPLA1-1	chr8:54958117-54958189	ENSG00000260955.2

Variant related genes	Relation type
ENSG00000260955	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553844629	chr8:54958024-54958025	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146824000	chr8:54958026-54958027	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546132183	chr8:54958031-54958032	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555451967	chr8:54958102-54958103	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562850192	chr8:54958116-54958117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531778231	chr8:54958119-54958120	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs148920838	chr8:54958144-54958145	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560628143	chr8:54958195-54958196	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs186702626	chr8:54958298-54958299	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546698221	chr8:54958348-54958349	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112286898	chr8:54958360-54958361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370591329	chr8:54958366-54958367	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574720648	chr8:54958386-54958387	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190686128	chr8:54958391-54958392	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532144572	chr8:54958478-54958479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182929768	chr8:54958487-54958488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200886521	chr8:54958508-54958509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188628564	chr8:54958550-54958551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35672696	chr8:54958586-54958587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573897017	chr8:54958720-54958721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538018798	chr8:54958744-54958745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542914930	chr8:54958759-54958760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554841665	chr8:54958769-54958770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191070722	chr8:54958930-54958931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534005903	chr8:54958944-54958945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143675656	chr8:54959009-54959010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559601260	chr8:54959032-54959033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1044691	chr8:54959094-54959095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182862441	chr8:54959104-54959105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6473905	chr8:54959173-54959174	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577115529	chr8:54959203-54959204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187504210	chr8:54959304-54959305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192311453	chr8:54959338-54959339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561918258	chr8:54959340-54959341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148161630	chr8:54959350-54959351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182622912	chr8:54959366-54959367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556239055	chr8:54959370-54959371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532010339	chr8:54959397-54959398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576039248	chr8:54959426-54959427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552232196	chr8:54959437-54959438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562758683	chr8:54959443-54959444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531599325	chr8:54959446-54959447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188380158	chr8:54959554-54959555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568113753	chr8:54959573-54959574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533998652	chr8:54959636-54959637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372949634	chr8:54959729-54959730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547563001	chr8:54959778-54959779	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570970984	chr8:54959787-54959788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539425859	chr8:54959837-54959838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4310181	chr8:54959908-54959909	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:218 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54935400-54962800	Weak transcription	HSMMtube	muscle
2	chr8:54935600-54963000	Weak transcription	Thymus	Thymus
3	chr8:54940200-54978200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:54944000-54966000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:54944000-54985800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:54944200-54974600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:54945800-54960600	Weak transcription	HMEC	breast
8	chr8:54945800-54961000	Weak transcription	Fetal Lung	lung
9	chr8:54946400-54961600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:54946400-54999200	Weak transcription	NHDF-Ad	bronchial
11	chr8:54947200-54960800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:54947200-54964800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:54947800-54961600	Weak transcription	Esophagus	oesophagus
14	chr8:54949000-54977200	Weak transcription	Aorta	Aorta
15	chr8:54949800-54999400	Weak transcription	NHLF	lung
16	chr8:54950400-54961400	Weak transcription	Small Intestine	intestine
17	chr8:54951400-54964800	Weak transcription	Fetal Kidney	kidney
18	chr8:54953000-54960800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:54953800-54962200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:54954000-54960800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:54954000-54973800	Weak transcription	Right Ventricle	heart
22	chr8:54954200-54960600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:54954200-54960800	Weak transcription	Colon Smooth Muscle	Colon
24	chr8:54954200-54960800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:54954200-54961200	Weak transcription	Adipose Nuclei	Adipose
26	chr8:54954600-54958400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:54954600-54958400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:54954600-54960800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:54954800-54960800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr8:54954800-54961600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:54954800-54964800	Weak transcription	Brain Germinal Matrix	brain
32	chr8:54955000-54958200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:54955000-54958200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:54955000-54958400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:54955000-54958600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:54955000-54959000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:54955000-54960600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:54955000-54968000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:54955000-54968400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:54955200-54958400	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:54955200-54959000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:54955200-54959200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:54955200-54979000	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:54955400-54958200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:54955400-54958400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:54955400-54958400	Strong transcription	Placenta	Placenta
47	chr8:54955400-54964000	Weak transcription	NH-A	brain
48	chr8:54955400-54964400	Weak transcription	Ovary	ovary
49	chr8:54955400-54965000	Weak transcription	Fetal Brain Male	brain
50	chr8:54955400-54970400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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