Variant report

Variant	rs60715781
Chromosome Location	chr12:44253597-44253598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44199765..44202625-chr12:44253112..44255967,2	MCF-7	breast:
2	chr12:44249126..44251692-chr12:44253550..44257434,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1531402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55669442	0.81[EUR][1000 genomes]
rs55821943	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55913788	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55914098	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55987826	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55995646	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56008731	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56024677	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56066688	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56134007	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56168228	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56312131	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57066844	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57331385	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58531015	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58824683	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58938395	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60120002	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60221557	0.86[EUR][1000 genomes]
rs60306990	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60467323	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930678	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930689	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930691	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930693	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930709	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930716	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61930718	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61932974	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61933009	0.82[EUR][1000 genomes]
rs71435964	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73085709	0.82[EUR][1000 genomes]
rs73085734	0.82[EUR][1000 genomes]
rs7971036	0.95[AMR][1000 genomes];1.00[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230800-44254800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:44231000-44254600	Weak transcription	GM12878-XiMat	blood
4	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:44233400-44254400	Weak transcription	Left Ventricle	heart
6	chr12:44234200-44254000	Weak transcription	Primary B cells from cord blood	blood
7	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
8	chr12:44237800-44254200	Weak transcription	Small Intestine	intestine
9	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
10	chr12:44241400-44254000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:44243000-44258000	Weak transcription	Fetal Intestine Small	intestine
12	chr12:44244400-44257400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:44245800-44255400	Weak transcription	HSMM	muscle
14	chr12:44247000-44254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr12:44251000-44254400	Weak transcription	Right Atrium	heart
16	chr12:44252200-44254400	Weak transcription	HSMMtube	muscle
17	chr12:44252200-44260800	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:44252400-44254200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:44252400-44254600	Weak transcription	HMEC	breast
20	chr12:44252400-44254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:44253000-44255600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:44253200-44257400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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