Variant report

Variant	rs12621747
Chromosome Location	chr2:54498027-54498028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10165485	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10171249	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10175251	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10205866	0.92[ASN][1000 genomes]
rs11125529	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11890390	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11896604	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12615749	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12615793	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12618994	0.83[ASN][1000 genomes]
rs12622470	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13411098	0.95[ASN][1000 genomes]
rs13423343	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13424638	0.92[ASN][1000 genomes]
rs17045711	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17045754	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1817557	0.95[ASN][1000 genomes]
rs1872329	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2062340	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28416696	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55635437	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56227395	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57060498	0.84[EUR][1000 genomes]
rs62139199	0.85[ASN][1000 genomes]
rs62139200	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62139251	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62139253	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62139254	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62139258	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62139259	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62140461	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740641	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7579722	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv457897	chr2:54459093-54502912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv582012	chr2:54459093-54502912	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv998172	chr2:54488511-54537474	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1011754	chr2:54494644-54533805	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54449800-54535200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:54481000-54502600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:54483400-54521200	Weak transcription	Pancreas	Pancrea
4	chr2:54488200-54514600	Weak transcription	Aorta	Aorta
5	chr2:54489400-54501400	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:54491000-54501200	Weak transcription	HSMM	muscle
7	chr2:54492000-54498400	Weak transcription	Primary B cells from cord blood	blood
8	chr2:54495000-54500800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:54495200-54503400	Weak transcription	Psoas Muscle	Psoas
10	chr2:54495400-54501400	Weak transcription	Brain Anterior Caudate	brain
11	chr2:54496000-54501600	Weak transcription	Left Ventricle	heart
12	chr2:54498000-54498200	Enhancers	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links