Variant report

Variant	rs13069717
Chromosome Location	chr3:141234523-141234524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141232140..141234840-chr3:141247609..141249349,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11711375	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11916906	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11917587	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13062809	0.82[EUR][1000 genomes]
rs1366042	0.91[EUR][1000 genomes]
rs1493209	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1582875	0.90[EUR][1000 genomes]
rs1863867	0.85[ASN][1000 genomes]
rs2042864	0.83[EUR][1000 genomes]
rs2172471	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2312193	0.87[EUR][1000 genomes]
rs2639998	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs295320	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs295323	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35711802	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806646	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3821710	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3821712	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6440013	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6440015	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6763498	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6767158	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6776003	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6785874	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6795168	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6800122	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6808837	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632308	0.92[EUR][1000 genomes]
rs7643837	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289631	0.83[EUR][1000 genomes]
rs9813177	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1006237	chr3:141227525-141300722	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13069717	RASA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141207000-141235800	Weak transcription	Gastric	stomach
2	chr3:141207000-141255000	Weak transcription	Aorta	Aorta
3	chr3:141207800-141235600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:141210400-141248000	Weak transcription	NHLF	lung
5	chr3:141211400-141235400	Weak transcription	A549	lung
6	chr3:141216000-141239600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:141217800-141235800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:141217800-141258400	Weak transcription	Psoas Muscle	Psoas
9	chr3:141218000-141235400	Weak transcription	NHEK	skin
10	chr3:141218200-141235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:141218600-141235400	Weak transcription	Brain Germinal Matrix	brain
12	chr3:141218800-141235600	Weak transcription	Left Ventricle	heart
13	chr3:141219000-141235200	Weak transcription	Hela-S3	cervix
14	chr3:141219000-141235400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:141219000-141235600	Weak transcription	Fetal Intestine Small	intestine
16	chr3:141219200-141235200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:141221000-141235600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr3:141221200-141235400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr3:141221400-141235000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:141221600-141235600	Weak transcription	Fetal Stomach	stomach
21	chr3:141221800-141235400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:141226200-141235600	Weak transcription	Thymus	Thymus
23	chr3:141226400-141235200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr3:141226400-141235400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:141226600-141235600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:141226600-141235600	Weak transcription	Pancreas	Pancrea
27	chr3:141226600-141235600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr3:141226600-141235800	Weak transcription	Brain Angular Gyrus	brain
29	chr3:141226600-141236200	Weak transcription	Brain Substantia Nigra	brain
30	chr3:141226600-141254400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:141226800-141235400	Weak transcription	HepG2	liver
32	chr3:141227400-141242800	Weak transcription	Ovary	ovary
33	chr3:141227600-141235800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:141227600-141236200	Weak transcription	Lung	lung
35	chr3:141228400-141246600	Strong transcription	Dnd41	blood
36	chr3:141229000-141236200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:141229200-141235400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:141229200-141236200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:141229400-141235600	Strong transcription	Primary B cells from cord blood	blood
40	chr3:141229400-141267400	Weak transcription	Fetal Heart	heart
41	chr3:141229800-141235400	Weak transcription	Placenta	Placenta
42	chr3:141229800-141235400	Weak transcription	K562	blood
43	chr3:141230000-141235400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:141230000-141235800	Weak transcription	Colonic Mucosa	Colon
45	chr3:141230000-141235800	Weak transcription	Esophagus	oesophagus
46	chr3:141230000-141235800	Weak transcription	NHDF-Ad	bronchial
47	chr3:141230000-141236400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:141230000-141259800	Weak transcription	Small Intestine	intestine
49	chr3:141230400-141243000	Weak transcription	Spleen	Spleen
50	chr3:141230600-141235400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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