Variant report

Variant	rs1817557
Chromosome Location	chr2:54494448-54494449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10165485	0.93[CHB][hapmap];0.92[CHD][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.94[ASN][1000 genomes]
rs10171249	0.93[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.91[MEX][hapmap];0.99[ASN][1000 genomes]
rs10175251	0.93[ASN][1000 genomes]
rs10205866	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11125529	0.93[CHB][hapmap];0.84[CHD][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs11890390	0.88[CHD][hapmap];0.81[MEX][hapmap];0.82[ASN][1000 genomes]
rs11896604	0.84[CHD][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap]
rs12615749	0.93[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.81[MEX][hapmap];0.84[TSI][hapmap];0.89[ASN][1000 genomes]
rs12615793	0.93[CHB][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs12618994	0.83[ASN][1000 genomes]
rs12621747	0.95[ASN][1000 genomes]
rs12622470	0.93[ASN][1000 genomes]
rs13411098	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423343	0.87[ASN][1000 genomes]
rs13424638	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17045711	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs17045754	0.93[CHB][hapmap];0.97[ASN][1000 genomes]
rs1872329	0.92[CHB][hapmap];0.84[ASN][1000 genomes]
rs2062340	0.82[ASN][1000 genomes]
rs28416696	0.85[ASN][1000 genomes]
rs55635437	0.97[ASN][1000 genomes]
rs56227395	0.92[ASN][1000 genomes]
rs57060498	0.81[ASN][1000 genomes]
rs62139199	0.88[ASN][1000 genomes]
rs62139200	0.81[ASN][1000 genomes]
rs62139251	0.91[ASN][1000 genomes]
rs62139253	0.91[ASN][1000 genomes]
rs62139254	0.82[ASN][1000 genomes]
rs62139258	0.92[ASN][1000 genomes]
rs62139259	0.99[ASN][1000 genomes]
rs62140461	0.95[ASN][1000 genomes]
rs6740641	0.82[ASN][1000 genomes]
rs7579722	0.93[CHB][hapmap];0.96[CHD][hapmap];0.84[GIH][hapmap];0.92[JPT][hapmap];0.81[MEX][hapmap];0.99[ASN][1000 genomes]
rs843715	1.00[JPT][hapmap]
rs843746	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs843748	1.00[JPT][hapmap]

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	nsv1011975	chr2:54475866-54495222	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1817557	EML6	cis	cerebellum	SCAN
rs1817557	EFEMP1	cis	parietal	SCAN

Chromatin state (count:11 , 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	chr2:54486600-54496000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:54488200-54514600	Weak transcription	Aorta	Aorta
6	chr2:54489400-54495600	Weak transcription	Left Ventricle	heart
7	chr2:54489400-54501400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:54491000-54501200	Weak transcription	HSMM	muscle
9	chr2:54492000-54498400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:54494200-54494800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:54494400-54495200	Enhancers	Psoas Muscle	Psoas

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