Variant report

Variant	rs57594449
Chromosome Location	chr7:12879887-12879888
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10235332	0.83[ASN][1000 genomes]
rs10237365	0.83[ASN][1000 genomes]
rs10240064	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10246731	0.92[AFR][1000 genomes]
rs10247964	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248233	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10259615	1.00[AMR][1000 genomes]
rs10261644	0.96[AFR][1000 genomes]
rs10262918	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10274349	1.00[ASN][1000 genomes]
rs10274842	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10277517	1.00[ASN][1000 genomes]
rs10278841	1.00[AMR][1000 genomes]
rs10280104	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12699421	0.83[ASN][1000 genomes]
rs12699422	0.83[ASN][1000 genomes]
rs13437931	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28580150	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28593438	1.00[AMR][1000 genomes]
rs28865373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34269223	0.83[ASN][1000 genomes]
rs35988890	0.83[ASN][1000 genomes]
rs36003929	0.83[ASN][1000 genomes]
rs36091229	0.83[ASN][1000 genomes]
rs56753879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6942476	1.00[ASN][1000 genomes]
rs6954419	0.83[ASN][1000 genomes]
rs73294037	0.92[AFR][1000 genomes]
rs73296162	1.00[AMR][1000 genomes]
rs73296201	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73298122	1.00[AMR][1000 genomes]
rs9648162	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12878200-12880000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr7:12879000-12880400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:12879200-12880000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:12879200-12880000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:12879200-12880000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:12879200-12880000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:12879200-12880400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:12879400-12880000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:12879400-12880000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:12879400-12886200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:12879600-12880000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr7:12879600-12880000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:12879800-12880000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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