Variant report

Variant	rs2208711
Chromosome Location	chr1:185873705-185873706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10798036	1.00[LWK][hapmap]
rs10911808	1.00[LWK][hapmap]
rs10911816	1.00[LWK][hapmap]
rs1322358	1.00[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1407136	0.96[CEU][hapmap];0.83[CHB][hapmap];0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1475113	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.83[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1569989	1.00[LWK][hapmap]
rs2129123	0.86[ASW][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap]
rs6665753	1.00[LWK][hapmap]
rs6688811	1.00[LWK][hapmap]
rs6697503	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs716756	1.00[LWK][hapmap]
rs7545771	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7556537	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];1.00[LWK][hapmap];0.87[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185868000-185878400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:185872800-185878400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:185873000-185876400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:185873000-185878400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr1:185873200-185878200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:185873200-185878200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:185873200-185880800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:185873400-185881200	Weak transcription	H9 Cell Line	embryonic stem cell

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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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