Variant report

Variant	rs609471
Chromosome Location	chr11:107469758-107469759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107464081..107465916-chr11:107468034..107470721,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11212301	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12271970	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12281067	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12284345	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12293198	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12577893	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1616927	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1784270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1939900	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs483468	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs549541	0.88[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.98[ASN][1000 genomes]
rs597383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs611085	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs652243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs668308	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs670446	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.98[ASN][1000 genomes]
rs693605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73555593	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73557714	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73557719	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73557724	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7933941	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935762	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7949340	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv556376	chr11:107250851-107486598	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs609471	ELMOD1	cis	Liver	GTEx
rs609471	ELMOD1	cis	multi-tissue	Pritchard

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107463200-107482600	Weak transcription	HSMMtube	muscle
2	chr11:107468600-107469800	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr11:107468600-107469800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:107469000-107469800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr11:107469000-107470000	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:107469200-107469800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:107469200-107469800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:107469200-107469800	Enhancers	Adipose Nuclei	Adipose
9	chr11:107469200-107469800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:107469200-107469800	Enhancers	HUVEC	blood vessel
11	chr11:107469200-107470000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:107469200-107470000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:107469400-107476400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:107469600-107469800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:107469600-107469800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:107469600-107469800	Enhancers	Liver	Liver
17	chr11:107469600-107469800	Enhancers	Skeletal Muscle Male	skeletal muscle

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