Variant report

Variant	rs12539623
Chromosome Location	chr7:121114980-121114981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10270571	1.00[EUR][1000 genomes]
rs12538669	0.93[AFR][1000 genomes]
rs17143522	1.00[EUR][1000 genomes]
rs17143563	1.00[EUR][1000 genomes]
rs17143570	1.00[EUR][1000 genomes]
rs2141358	1.00[EUR][1000 genomes]
rs2244577	1.00[EUR][1000 genomes]
rs2463647	1.00[EUR][1000 genomes]
rs28433587	1.00[EUR][1000 genomes]
rs41450350	1.00[EUR][1000 genomes]
rs41529646	1.00[EUR][1000 genomes]
rs57135280	1.00[EUR][1000 genomes]
rs59345057	0.87[AFR][1000 genomes]
rs59465771	1.00[AFR][1000 genomes]
rs59515746	1.00[EUR][1000 genomes]
rs59688740	1.00[EUR][1000 genomes]
rs60903610	1.00[EUR][1000 genomes]
rs61636283	1.00[EUR][1000 genomes]
rs6466786	1.00[EUR][1000 genomes]
rs6466787	1.00[EUR][1000 genomes]
rs73429156	1.00[EUR][1000 genomes]
rs73429163	1.00[EUR][1000 genomes]
rs73429166	1.00[EUR][1000 genomes]
rs73429169	1.00[EUR][1000 genomes]
rs73429170	1.00[EUR][1000 genomes]
rs73429173	1.00[EUR][1000 genomes]
rs73429175	1.00[EUR][1000 genomes]
rs73429176	1.00[EUR][1000 genomes]
rs73429178	1.00[EUR][1000 genomes]
rs73429179	1.00[EUR][1000 genomes]
rs73429184	1.00[EUR][1000 genomes]
rs73429185	1.00[EUR][1000 genomes]
rs73429186	1.00[EUR][1000 genomes]
rs73429187	1.00[EUR][1000 genomes]
rs73429189	1.00[EUR][1000 genomes]
rs73429190	1.00[EUR][1000 genomes]
rs73429191	1.00[EUR][1000 genomes]
rs73717345	0.94[AFR][1000 genomes]
rs73717357	0.87[AFR][1000 genomes]
rs73717359	0.87[AFR][1000 genomes]
rs73717360	0.87[AFR][1000 genomes]
rs73717361	0.87[AFR][1000 genomes]
rs73717362	0.87[AFR][1000 genomes]
rs7803325	1.00[AFR][1000 genomes]
rs7809121	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121114200-121115200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:121114200-121115400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:121114200-121116200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:121114200-121116400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:121114200-121117400	Weak transcription	Stomach Mucosa	stomach
6	chr7:121114200-121119200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:121114400-121115400	Weak transcription	Fetal Intestine Large	intestine
8	chr7:121114400-121115400	Weak transcription	Fetal Intestine Small	intestine
9	chr7:121114400-121119200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:121114400-121119200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:121114400-121119200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links