Variant report

Variant	rs12079227
Chromosome Location	chr1:193674124-193674125
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12060042	0.90[ASN][1000 genomes]
rs12116751	0.81[ASN][1000 genomes]
rs12138394	0.81[ASN][1000 genomes]
rs12726685	0.81[ASN][1000 genomes]
rs12737948	0.81[ASN][1000 genomes]
rs12747654	1.00[ASN][1000 genomes]
rs12751433	0.81[ASN][1000 genomes]
rs12756397	1.00[ASN][1000 genomes]
rs1339319	0.81[ASN][1000 genomes]
rs1887629	0.81[ASN][1000 genomes]
rs34195829	0.81[ASN][1000 genomes]
rs35418296	0.81[ASN][1000 genomes]
rs4657874	0.81[ASN][1000 genomes]
rs60581324	0.81[ASN][1000 genomes]
rs6428182	0.81[ASN][1000 genomes]
rs6678275	0.81[ASN][1000 genomes]
rs6689774	1.00[ASN][1000 genomes]
rs6695669	0.81[ASN][1000 genomes]
rs6703565	0.81[ASN][1000 genomes]
rs7512670	0.81[ASN][1000 genomes]
rs7524134	0.81[ASN][1000 genomes]
rs7524872	0.81[ASN][1000 genomes]
rs7541624	1.00[ASN][1000 genomes]
rs7541925	1.00[ASN][1000 genomes]
rs7550219	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3372415	chr1:193612172-193988265	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv34989	chr1:193630577-193710196	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2756877	chr1:193631528-193710196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758986	chr1:193631528-193710196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1012595	chr1:193648643-193682630	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv441729	chr1:193661018-193710376	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3693068	chr1:193661626-193709696	Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv872832	chr1:193661626-193850407	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv34261	chr1:193663276-193710196	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv34863	chr1:193663276-193710196	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193670200-193674800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:193670600-193674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:193670600-193674600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:193670800-193674600	Weak transcription	NHEK	skin
5	chr1:193671200-193674400	Weak transcription	HMEC	breast
6	chr1:193671400-193674600	Weak transcription	Hela-S3	cervix
7	chr1:193671400-193676000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:193671600-193674200	Enhancers	Fetal Lung	lung
9	chr1:193673800-193674200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:193674000-193674200	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links