Variant report

Variant	rs11182954
Chromosome Location	chr12:45656502-45656503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45654235..45656718-chr12:45666957..45669692,2	MCF-7	breast:
2	chr12:45654342..45656870-chr12:45658694..45660838,2	MCF-7	breast:
3	chr12:45608273..45611402-chr12:45650771..45657484,8	MCF-7	breast:
4	chr12:45655142..45658052-chr12:45658399..45661222,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177119	Chromatin interaction
ENSG00000134297	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1015626	0.82[CEU][hapmap]
rs1025090	0.81[JPT][hapmap];1.00[MKK][hapmap]
rs10459293	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10459294	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10459295	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10492284	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10748412	0.89[EUR][1000 genomes]
rs10785556	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10785566	0.82[CEU][hapmap]
rs10880757	0.87[JPT][hapmap]
rs10880758	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs10880765	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10880766	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10880768	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182898	0.84[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs11182899	0.82[ASN][1000 genomes]
rs11182903	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11182904	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11182912	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11182916	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182917	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182919	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11182921	0.89[ASN][1000 genomes]
rs11182923	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11182927	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11182931	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182935	0.90[ASN][1000 genomes]
rs11182940	0.89[ASN][1000 genomes]
rs11182941	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11182942	0.88[ASN][1000 genomes]
rs11182943	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182947	0.92[ASN][1000 genomes]
rs11182951	0.84[CHB][hapmap];0.93[MKK][hapmap]
rs11182953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182957	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11182961	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182965	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182966	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182969	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11182970	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11182973	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11182974	0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11182981	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11561532	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11610233	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11611509	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11612203	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11612233	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11614082	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11614089	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11615850	0.89[ASN][1000 genomes]
rs12226944	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12227678	0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12228399	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12228733	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12299174	0.82[ASN][1000 genomes]
rs12320437	0.89[ASN][1000 genomes]
rs12322087	0.84[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12814332	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12815115	0.88[ASN][1000 genomes]
rs12815334	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815577	0.82[CEU][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12815723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818421	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12822746	0.89[ASN][1000 genomes]
rs12828052	0.86[ASN][1000 genomes]
rs17095551	0.89[ASN][1000 genomes]
rs17095557	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1913692	0.82[CEU][hapmap]
rs2408185	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs34024171	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34759896	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs35032811	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs35054776	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35400022	0.94[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35588430	0.82[ASN][1000 genomes]
rs3759077	0.89[ASN][1000 genomes]
rs3759081	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3759082	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3782131	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4768085	0.82[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs57560057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57797434	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61923810	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61923825	0.89[ASN][1000 genomes]
rs61923830	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7138247	0.82[CEU][hapmap]
rs728590	0.82[CEU][hapmap]
rs7304481	0.82[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7307262	0.82[CEU][hapmap]
rs7309615	0.82[CEU][hapmap]
rs7954282	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7965430	0.82[CEU][hapmap]

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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45636200-45662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:45648000-45657400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:45651200-45662000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:45651400-45662000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:45651400-45662400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:45651400-45675600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:45651600-45656600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:45651600-45656600	Weak transcription	GM12878-XiMat	blood
9	chr12:45651600-45657200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:45651600-45662000	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:45651600-45662400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:45651600-45667000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:45651600-45667400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:45651600-45674000	Weak transcription	Primary B cells from cord blood	blood
15	chr12:45653800-45657400	Weak transcription	Small Intestine	intestine
16	chr12:45653800-45662000	Weak transcription	Esophagus	oesophagus
17	chr12:45654200-45656600	Weak transcription	Fetal Heart	heart
18	chr12:45654200-45657800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:45654200-45662000	Weak transcription	Right Ventricle	heart
20	chr12:45654200-45662000	Weak transcription	Spleen	Spleen
21	chr12:45654200-45662400	Weak transcription	Gastric	stomach
22	chr12:45654200-45666800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:45654400-45656600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:45654400-45656600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr12:45654400-45657000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:45654400-45657200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:45654400-45657200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:45654400-45657200	Weak transcription	Right Atrium	heart
29	chr12:45654400-45657200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:45654400-45657200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:45654400-45657200	Weak transcription	K562	blood
32	chr12:45654400-45657400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:45654400-45657400	Weak transcription	Fetal Kidney	kidney
34	chr12:45654400-45661800	Weak transcription	A549	lung
35	chr12:45654400-45662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:45654400-45662000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:45654400-45662000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:45654400-45662000	Weak transcription	Osteobl	bone
39	chr12:45654400-45662400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:45654400-45662400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:45654400-45662400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr12:45654400-45662400	Weak transcription	Fetal Stomach	stomach
43	chr12:45654400-45662400	Weak transcription	HSMM	muscle
44	chr12:45654400-45662400	Weak transcription	NH-A	brain
45	chr12:45654400-45662400	Weak transcription	NHLF	lung
46	chr12:45654400-45662600	Weak transcription	Stomach Mucosa	stomach
47	chr12:45654400-45666600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr12:45654400-45667600	Weak transcription	Primary T cells from cord blood	blood
49	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:45654600-45657200	Weak transcription	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links