Variant report

Variant	rs60120002
Chromosome Location	chr12:44276525-44276526
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42876592..42877329-chr12:44276106..44277055,3	K562	blood:
2	chr12:44170101..44170969-chr12:44276130..44276954,2	K562	blood:
3	chr12:44199227..44200140-chr12:44276081..44276608,2	K562	blood:
4	chr12:44170013..44170913-chr12:44276071..44277312,10	MCF-7	breast:
5	chr12:43838710..43839367-chr12:44275853..44276638,2	MCF-7	breast:
6	chr12:44228150..44229800-chr12:44275974..44278416,2	MCF-7	breast:
7	chr12:43895288..43896089-chr12:44276115..44276753,2	MCF-7	breast:
8	chr12:44152812..44153683-chr12:44276089..44276634,2	MCF-7	breast:
9	chr12:44170161..44170978-chr12:44276181..44276998,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139173	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000139174	Chromatin interaction
ENSG00000198001	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	0.80[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	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55834309	1.00[ASN][1000 genomes]
rs55913788	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55914098	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55917469	1.00[ASN][1000 genomes]
rs55987826	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55995646	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56008731	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56011342	1.00[ASN][1000 genomes]
rs56024677	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56066688	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56081380	1.00[ASN][1000 genomes]
rs56114967	1.00[ASN][1000 genomes]
rs56134007	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168228	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56312131	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56322120	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56355753	1.00[ASN][1000 genomes]
rs57066844	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57331385	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58531015	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58824683	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58938395	0.92[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	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60467323	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60715781	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61930676	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61930678	0.88[EUR][1000 genomes]
rs61930689	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930691	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930693	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930709	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61930716	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61930718	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61932974	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61933009	0.86[EUR][1000 genomes]
rs7132451	1.00[ASN][1000 genomes]
rs71435964	0.85[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	0.88[AFR][1000 genomes];0.85[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:13 , 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	chr12:44263600-44277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44263800-44277600	Weak transcription	Left Ventricle	heart
5	chr12:44273800-44278400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44274400-44277200	Weak transcription	HSMM	muscle
7	chr12:44274600-44278600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:44274600-44286000	Weak transcription	Pancreas	Pancrea
9	chr12:44275000-44276600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:44275000-44278400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:44275000-44281200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr12:44275200-44277800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:44276400-44276800	Enhancers	Brain Anterior Caudate	brain

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