Variant report

Variant	rs11175483
Chromosome Location	chr12:65031846-65031847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65020670..65023700-chr12:65029685..65032659,3	MCF-7	breast:
2	chr12:65030293..65032004-chr12:65033712..65035363,2	MCF-7	breast:
3	chr12:65030974..65032522-chr12:65034384..65035894,2	K562	blood:

Variant related genes	Relation type
ENSG00000225195	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10784417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784418	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175484	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1147105	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147107	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1244869	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1244873	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1244878	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245168	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1245169	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1245179	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245180	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1245181	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1245183	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245184	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245185	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1245186	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1245187	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1264485	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1268914	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1270437	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1270836	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1270837	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1272547	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1383117	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1690259	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1690272	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1690273	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716490	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1716496	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716506	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1716517	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795613	0.97[ASN][1000 genomes]
rs1795618	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1795621	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1795622	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795624	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795625	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1797677	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1797678	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797679	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797684	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1797688	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1797689	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2464347	0.97[ASN][1000 genomes]
rs2620730	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682714	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682716	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2682719	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2682728	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2701849	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2701850	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7968403	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7971636	0.97[ASN][1000 genomes]
rs7975455	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv438218	chr12:65017844-65037483	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65018600-65035000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:65021800-65037000	Weak transcription	Adipose Nuclei	Adipose
5	chr12:65021800-65038000	Weak transcription	Ovary	ovary
6	chr12:65022400-65039600	Weak transcription	Osteobl	bone
7	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
8	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
10	chr12:65026800-65032400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:65027400-65032600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
13	chr12:65027600-65032600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
15	chr12:65028000-65032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:65028000-65032600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:65028000-65036600	Weak transcription	Lung	lung
18	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:65028400-65032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:65028400-65032400	Weak transcription	Hela-S3	cervix
21	chr12:65028400-65037000	Weak transcription	HUVEC	blood vessel
22	chr12:65028400-65038600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
24	chr12:65028400-65047400	Weak transcription	NHLF	lung
25	chr12:65028600-65056400	Weak transcription	NHEK	skin
26	chr12:65029000-65041800	Weak transcription	Left Ventricle	heart
27	chr12:65029200-65032800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:65029200-65039800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr12:65029200-65041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr12:65029200-65041600	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:65029400-65032400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:65029400-65036800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:65029400-65038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:65029600-65032400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:65029600-65032400	Weak transcription	K562	blood
36	chr12:65029600-65032600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:65029600-65036600	Weak transcription	Pancreas	Pancrea
38	chr12:65029600-65036800	Weak transcription	GM12878-XiMat	blood
39	chr12:65029600-65037600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:65029600-65038200	Weak transcription	Right Atrium	heart
41	chr12:65029600-65042600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
43	chr12:65030600-65032400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr12:65030800-65032600	Enhancers	Fetal Heart	heart
45	chr12:65030800-65033800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:65030800-65034600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:65031000-65032400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:65031000-65032400	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:65031200-65032400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links