Variant report

Variant	rs7954282
Chromosome Location	chr12:45584046-45584047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45583296..45585213-chr12:45587599..45589983,2	K562	blood:
2	chr12:45583818..45586360-chr12:45587363..45589284,2	MCF-7	breast:
3	chr12:45566834..45570854-chr12:45581275..45584905,3	K562	blood:

Variant related genes	Relation type
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs1025090	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs10459293	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10459294	0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10459295	1.00[JPT][hapmap]
rs10492284	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10785556	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10785569	0.80[JPT][hapmap]
rs10880755	0.89[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs10880756	0.90[EUR][1000 genomes]
rs10880757	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880761	0.81[AMR][1000 genomes]
rs10880765	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10880766	1.00[JPT][hapmap]
rs10880768	1.00[JPT][hapmap]
rs10880775	0.80[JPT][hapmap]
rs11182898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11182899	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182903	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182904	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182905	0.80[CEU][hapmap]
rs11182912	0.92[ASN][1000 genomes]
rs11182916	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs11182917	0.90[ASN][1000 genomes]
rs11182919	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182921	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11182923	0.89[ASN][1000 genomes]
rs11182927	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11182931	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs11182935	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182940	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182941	0.82[ASN][1000 genomes]
rs11182942	0.85[ASN][1000 genomes]
rs11182943	0.86[ASN][1000 genomes]
rs11182947	0.87[ASN][1000 genomes]
rs11182949	0.88[MEX][hapmap]
rs11182951	0.82[CHD][hapmap]
rs11182954	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11182955	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs11182957	1.00[JPT][hapmap]
rs11182961	1.00[JPT][hapmap]
rs11182965	1.00[JPT][hapmap]
rs11182981	1.00[JPT][hapmap]
rs11182983	0.80[JPT][hapmap]
rs11182986	0.80[JPT][hapmap]
rs11182988	0.80[JPT][hapmap]
rs11182989	0.80[JPT][hapmap]
rs11182990	0.80[JPT][hapmap]
rs11561532	0.89[ASN][1000 genomes]
rs11610233	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11611509	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11612203	0.90[ASN][1000 genomes]
rs11612233	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11614082	1.00[JPT][hapmap]
rs11614089	0.93[JPT][hapmap]
rs11615850	0.90[ASN][1000 genomes]
rs12226944	0.89[ASN][1000 genomes]
rs12227678	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12228733	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12231753	0.80[CEU][hapmap]
rs12299174	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12320168	0.88[MEX][hapmap]
rs12320437	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12322087	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12814332	0.85[ASN][1000 genomes]
rs12815115	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12822746	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12828052	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17095551	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17095557	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs1896024	0.88[EUR][1000 genomes]
rs1903934	0.86[EUR][1000 genomes]
rs2408184	0.88[MEX][hapmap]
rs2408185	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34024171	0.90[ASN][1000 genomes]
rs35054776	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs35588430	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759077	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3759081	0.90[ASN][1000 genomes]
rs3759082	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3782131	0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57797434	0.91[ASN][1000 genomes]
rs61923804	1.00[EUR][1000 genomes]
rs61923810	0.91[ASN][1000 genomes]
rs61923825	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61923830	0.90[ASN][1000 genomes]
rs7135988	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs7138983	0.84[AMR][1000 genomes]
rs7956033	0.90[EUR][1000 genomes]
rs7971900	0.89[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs929903	0.90[EUR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45565400-45586400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:45565600-45585000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:45570000-45593200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:45571000-45594600	Weak transcription	Pancreas	Pancrea
5	chr12:45571600-45586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:45573200-45586000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:45573200-45587200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:45573400-45585000	Weak transcription	NHEK	skin
9	chr12:45573400-45594600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:45573600-45593600	Weak transcription	Fetal Thymus	thymus
11	chr12:45574000-45586200	Weak transcription	Dnd41	blood
12	chr12:45574200-45584200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:45574200-45586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:45574600-45586000	Weak transcription	Fetal Intestine Small	intestine
15	chr12:45575600-45584400	Weak transcription	Left Ventricle	heart
16	chr12:45576600-45585800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:45577600-45584400	Weak transcription	A549	lung
18	chr12:45577600-45584600	Weak transcription	Fetal Stomach	stomach
19	chr12:45578600-45585000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:45578600-45585800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:45578600-45585800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:45578600-45586000	Weak transcription	K562	blood
23	chr12:45578600-45594000	Weak transcription	Thymus	Thymus
24	chr12:45578600-45594600	Weak transcription	Psoas Muscle	Psoas
25	chr12:45579400-45599200	Weak transcription	Primary B cells from cord blood	blood
26	chr12:45579800-45586000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:45580000-45585800	Weak transcription	Fetal Intestine Large	intestine
28	chr12:45580200-45593800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:45581800-45586000	Weak transcription	Fetal Heart	heart
30	chr12:45582000-45586200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:45582200-45591200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:45582400-45593600	Weak transcription	Primary T cells from cord blood	blood
33	chr12:45582600-45585000	Weak transcription	Small Intestine	intestine
34	chr12:45582600-45586000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:45582800-45586800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr12:45583000-45585800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:45583200-45586200	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:45583600-45584400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:45583600-45584400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr12:45583600-45584600	Weak transcription	HepG2	liver
41	chr12:45583600-45586200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:45583800-45586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:45583800-45586800	Weak transcription	Right Ventricle	heart

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