Variant report

Variant	rs57331385
Chromosome Location	chr12:44277371-44277372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44228150..44229800-chr12:44275974..44278416,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1531402	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1532218	1.00[ASN][1000 genomes]
rs17093993	1.00[ASN][1000 genomes]
rs17094007	1.00[ASN][1000 genomes]
rs2407791	1.00[ASN][1000 genomes]
rs55641600	1.00[ASN][1000 genomes]
rs55669442	0.85[EUR][1000 genomes]
rs55773976	1.00[ASN][1000 genomes]
rs55821943	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55834309	1.00[ASN][1000 genomes]
rs55913788	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914098	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55917469	1.00[ASN][1000 genomes]
rs55987826	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55995646	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56008731	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011342	1.00[ASN][1000 genomes]
rs56024677	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56066688	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56081380	1.00[ASN][1000 genomes]
rs56114967	1.00[ASN][1000 genomes]
rs56134007	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56312131	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56322120	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56355753	1.00[ASN][1000 genomes]
rs57066844	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58531015	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58824683	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58938395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60120002	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60221557	0.91[EUR][1000 genomes]
rs60306990	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60467323	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60715781	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930676	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61930678	0.88[EUR][1000 genomes]
rs61930689	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930691	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930693	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930709	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61930716	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61930718	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61932974	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61933009	0.86[EUR][1000 genomes]
rs7132451	1.00[ASN][1000 genomes]
rs71435964	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73085709	0.86[EUR][1000 genomes]
rs73085734	0.86[EUR][1000 genomes]
rs73085788	1.00[ASN][1000 genomes]
rs73087603	1.00[ASN][1000 genomes]
rs73087605	1.00[ASN][1000 genomes]
rs73087610	1.00[ASN][1000 genomes]
rs73087626	1.00[ASN][1000 genomes]
rs73087687	1.00[ASN][1000 genomes]
rs73087696	1.00[ASN][1000 genomes]
rs73089730	1.00[ASN][1000 genomes]
rs73089734	1.00[ASN][1000 genomes]
rs73089744	1.00[ASN][1000 genomes]
rs73089748	1.00[ASN][1000 genomes]
rs73089752	1.00[ASN][1000 genomes]
rs73089753	1.00[ASN][1000 genomes]
rs73091736	1.00[ASN][1000 genomes]
rs7311778	1.00[ASN][1000 genomes]
rs7960478	1.00[ASN][1000 genomes]
rs7971036	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783507	1.00[ASN][1000 genomes]
rs9919711	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44263800-44277600	Weak transcription	Left Ventricle	heart
4	chr12:44273800-44278400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44274600-44278600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
7	chr12:44275000-44278400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:44275200-44277800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:44276600-44278600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr12:44276800-44278400	Weak transcription	Brain Anterior Caudate	brain
12	chr12:44276800-44278600	Enhancers	Osteobl	bone
13	chr12:44277000-44277400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:44277000-44278600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:44277000-44279600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:44277200-44277600	Enhancers	HSMM	muscle
17	chr12:44277200-44278600	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links