Variant report

Variant	rs4808950
Chromosome Location	chr19:19518889-19518890
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19518514..19520258-chr19:19600327..19603326,2	K562	blood:
2	chr19:19517676..19523653-chr19:19565926..19570851,6	K562	blood:
3	chr19:19471807..19473725-chr19:19518188..19520974,2	K562	blood:
4	chr19:19518149..19520841-chr19:19526563..19530203,3	MCF-7	breast:
5	chr19:19492268..19501550-chr19:19512499..19523684,29	K562	blood:
6	chr19:19517676..19519463-chr19:19566372..19569188,2	K562	blood:
7	chr19:19514595..19517232-chr19:19518026..19521023,2	MCF-7	breast:
8	chr19:19517059..19519979-chr19:19556271..19558619,2	MCF-7	breast:
9	chr19:19491673..19504307-chr19:19513999..19523684,33	K562	blood:
10	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
11	chr19:19514824..19526614-chr19:19535593..19543548,15	K562	blood:
12	chr19:19494732..19500297-chr19:19512585..19520288,14	MCF-7	breast:
13	chr19:19476063..19479194-chr19:19516845..19521061,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000167491	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1000237	0.91[ASN][1000 genomes]
rs10401193	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10402627	0.81[ASN][1000 genomes]
rs10404728	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10405625	0.84[ASN][1000 genomes]
rs10410664	0.84[ASN][1000 genomes]
rs10414830	0.84[ASN][1000 genomes]
rs1054284	0.89[ASN][1000 genomes]
rs1063966	0.81[ASN][1000 genomes]
rs11669516	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12972397	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12973258	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12975119	0.84[ASN][1000 genomes]
rs12977524	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12983940	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465695	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1469712	0.84[ASN][1000 genomes]
rs1469713	0.82[ASN][1000 genomes]
rs17288409	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1858999	0.87[ASN][1000 genomes]
rs2082421	0.87[ASN][1000 genomes]
rs2099333	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2099334	0.84[ASN][1000 genomes]
rs2163804	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2163805	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2315279	0.85[ASN][1000 genomes]
rs2315281	0.84[ASN][1000 genomes]
rs28478453	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2905431	0.86[ASN][1000 genomes]
rs2916069	0.91[ASN][1000 genomes]
rs2916073	0.84[ASN][1000 genomes]
rs2916074	0.84[ASN][1000 genomes]
rs2916076	0.84[ASN][1000 genomes]
rs2965175	0.81[ASN][1000 genomes]
rs2965180	0.87[ASN][1000 genomes]
rs2965182	0.84[ASN][1000 genomes]
rs2965183	0.84[ASN][1000 genomes]
rs2965188	0.90[ASN][1000 genomes]
rs2965189	0.91[ASN][1000 genomes]
rs34277109	0.87[ASN][1000 genomes]
rs34647936	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35418933	0.84[ASN][1000 genomes]
rs3752151	0.89[ASN][1000 genomes]
rs4808196	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4808198	0.82[ASN][1000 genomes]
rs4808199	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808200	0.84[ASN][1000 genomes]
rs4808202	0.84[ASN][1000 genomes]
rs4808203	0.84[ASN][1000 genomes]
rs4808955	0.83[ASN][1000 genomes]
rs4808957	0.83[ASN][1000 genomes]
rs4808959	0.83[ASN][1000 genomes]
rs4808960	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808961	0.84[ASN][1000 genomes]
rs4808964	0.87[ASN][1000 genomes]
rs60003758	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60321073	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6511036	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6909	0.81[ASN][1000 genomes]
rs7250658	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7252888	0.87[ASN][1000 genomes]
rs7256149	0.85[ASN][1000 genomes]
rs7258508	0.83[EUR][1000 genomes]
rs751858	0.80[EUR][1000 genomes]
rs754255	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892022	0.87[ASN][1000 genomes]
rs9917108	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19517600-19519200	Flanking Active TSS	Hela-S3	cervix
2	chr19:19518000-19519000	Enhancers	Primary B cells from peripheral blood	blood
3	chr19:19518000-19521800	Weak transcription	Aorta	Aorta
4	chr19:19518200-19521600	Enhancers	Fetal Thymus	thymus
5	chr19:19518200-19521600	Enhancers	Stomach Mucosa	stomach
6	chr19:19518200-19522000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr19:19518200-19522800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:19518400-19519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr19:19518400-19519000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr19:19518400-19519000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr19:19518400-19519400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:19518400-19519400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:19518400-19519600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:19518400-19519600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:19518400-19520200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr19:19518400-19520200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:19518400-19520200	Weak transcription	Thymus	Thymus
18	chr19:19518400-19520800	Enhancers	Dnd41	blood
19	chr19:19518400-19521400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:19518400-19521600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr19:19518400-19521600	Enhancers	NHEK	skin
22	chr19:19518400-19521800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr19:19518400-19522000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr19:19518400-19522000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:19518400-19522000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr19:19518400-19522600	Enhancers	Primary T cells from cord blood	blood
27	chr19:19518400-19522600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr19:19518400-19522800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr19:19518400-19525200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr19:19518600-19519000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr19:19518600-19519000	Enhancers	Liver	Liver
32	chr19:19518600-19519000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr19:19518600-19519000	Enhancers	Lung	lung
34	chr19:19518600-19519000	Enhancers	NH-A	brain
35	chr19:19518600-19519400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:19518600-19519400	Enhancers	Primary B cells from cord blood	blood
37	chr19:19518600-19519600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr19:19518600-19519600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr19:19518600-19519600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr19:19518600-19519600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:19518600-19519600	Weak transcription	Fetal Intestine Large	intestine
42	chr19:19518600-19519600	Weak transcription	Placenta	Placenta
43	chr19:19518600-19519600	Weak transcription	Gastric	stomach
44	chr19:19518600-19519600	Weak transcription	Left Ventricle	heart
45	chr19:19518600-19519600	Weak transcription	Psoas Muscle	Psoas
46	chr19:19518600-19519600	Weak transcription	Small Intestine	intestine
47	chr19:19518600-19519600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr19:19518600-19519600	Weak transcription	Spleen	Spleen
49	chr19:19518600-19519800	Weak transcription	HSMMtube	muscle
50	chr19:19518600-19520000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links