Variant report

Variant	rs2252685
Chromosome Location	chr12:106742877-106742878
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106639618..106642375-chr12:106742667..106744528,3	MCF-7	breast:
2	chr12:106740945..106746236-chr12:106747854..106753428,6	MCF-7	breast:
3	chr12:106741271..106744230-chr12:106772582..106774357,2	K562	blood:
4	chr12:106739203..106740891-chr12:106742866..106745239,2	K562	blood:
5	chr12:106739391..106742209-chr12:106742866..106744499,2	K562	blood:
6	chr12:106740979..106743105-chr12:106751518..106753064,2	MCF-7	breast:
7	chr12:106742846..106744824-chr12:107347337..107349795,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258355	Chromatin interaction
ENSG00000136026	Chromatin interaction
ENSG00000151135	Chromatin interaction
ENSG00000013503	Chromatin interaction
ENSG00000260329	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10861600	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10861607	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11112983	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1532586	0.83[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap]
rs1882413	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243506	0.93[CEU][hapmap];0.85[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2245062	0.93[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2246353	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2246627	0.85[AMR][1000 genomes]
rs2249162	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2249773	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2250262	0.90[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2250441	1.00[LWK][hapmap];0.84[MKK][hapmap]
rs2253054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2253838	0.88[GIH][hapmap];0.91[MEX][hapmap]
rs2264761	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2288266	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.86[MEX][hapmap]
rs34619628	0.86[ASN][1000 genomes]
rs4964460	1.00[ASW][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap]
rs6539261	1.00[LWK][hapmap]
rs6539262	0.81[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap]
rs6539264	0.81[GIH][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2252685	NUAK1	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106705200-106743400	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr12:106705400-106743200	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:106723600-106751000	Weak transcription	Fetal Kidney	kidney
4	chr12:106724000-106751000	Weak transcription	Fetal Brain Female	brain
5	chr12:106731200-106743600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:106735800-106751000	Weak transcription	Colonic Mucosa	Colon
7	chr12:106736200-106751400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:106736600-106751000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:106736800-106745000	Weak transcription	Psoas Muscle	Psoas
10	chr12:106736800-106746600	Weak transcription	Pancreas	Pancrea
11	chr12:106736800-106751000	Weak transcription	Right Ventricle	heart
12	chr12:106737000-106743800	Weak transcription	Aorta	Aorta
13	chr12:106737000-106751000	Weak transcription	Fetal Thymus	thymus
14	chr12:106737200-106743000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:106737200-106743400	Weak transcription	NH-A	brain
16	chr12:106737200-106750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:106737200-106751000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr12:106737200-106751000	Weak transcription	Fetal Lung	lung
19	chr12:106737400-106750800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:106737400-106750800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr12:106737400-106751000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:106737600-106743600	Weak transcription	HepG2	liver
23	chr12:106737600-106750800	Weak transcription	Fetal Intestine Small	intestine
24	chr12:106737600-106751000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:106737600-106751000	Weak transcription	Fetal Intestine Large	intestine
26	chr12:106737800-106750800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:106738400-106751000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:106738600-106744200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr12:106738600-106750800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:106738600-106750800	Weak transcription	Fetal Heart	heart
31	chr12:106738800-106751000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:106739400-106743600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:106739800-106751000	Weak transcription	Fetal Muscle Leg	muscle
34	chr12:106740000-106743400	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:106740200-106751000	Weak transcription	Fetal Stomach	stomach
36	chr12:106740400-106743800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:106740400-106745200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:106740400-106746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:106740400-106750400	Weak transcription	Liver	Liver
40	chr12:106740400-106750800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:106740400-106750800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:106740400-106751000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr12:106740400-106751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:106740400-106751000	Weak transcription	HSMMtube	muscle
45	chr12:106740400-106751400	Weak transcription	Esophagus	oesophagus
46	chr12:106740400-106751400	Weak transcription	Lung	lung
47	chr12:106740400-106751400	Weak transcription	Spleen	Spleen
48	chr12:106740600-106744400	Weak transcription	Thymus	Thymus
49	chr12:106740600-106750800	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:106740600-106750800	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links