Variant report

Variant	rs1006122
Chromosome Location	chr2:113785842-113785843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10179646	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1020404	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11894902	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12711747	0.91[CHB][hapmap];0.86[CHD][hapmap]
rs1446511	0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1446512	0.87[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1446514	0.83[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1446515	0.83[CEU][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1562306	0.83[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1596894	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1867831	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4849136	0.83[CEU][hapmap]
rs56141952	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6744874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6745709	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6749299	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7584409	0.83[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs895497	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9308681	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv961339	chr2:113772508-113796318	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv874885	chr2:113783671-113807021	Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113765600-113797400	Weak transcription	Gastric	stomach
2	chr2:113785200-113786400	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:113785400-113786000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
4	chr2:113785600-113786000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:113785600-113786200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:113785600-113786200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:113785800-113786200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:113785800-113787400	Enhancers	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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