Variant report

Variant	rs1405649
Chromosome Location	chr2:178748269-178748270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178739623..178741157-chr2:178746550..178748805,2	K562	blood:
2	chr2:178746834..178749681-chr2:178770158..178771750,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1025598	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs10497480	0.83[CHD][hapmap]
rs10497488	0.85[MEX][hapmap]
rs11899873	0.86[ASN][1000 genomes]
rs12618253	0.81[ASN][1000 genomes]
rs12618537	1.00[CHB][hapmap]
rs13018609	0.85[ASN][1000 genomes]
rs13021998	0.83[ASN][1000 genomes]
rs1438064	0.80[ASN][1000 genomes]
rs16865791	0.87[AMR][1000 genomes]
rs16865819	0.85[ASN][1000 genomes]
rs16865921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16866025	1.00[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs16866032	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap]
rs17329531	0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs17330075	0.83[CHD][hapmap]
rs17400325	0.85[MEX][hapmap]
rs1946812	0.83[AMR][1000 genomes]
rs2083156	0.83[ASN][1000 genomes]
rs3108451	0.86[ASN][1000 genomes]
rs34365395	0.85[ASN][1000 genomes]
rs35873373	0.85[ASN][1000 genomes]
rs3770047	1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs3770050	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3770054	0.85[ASN][1000 genomes]
rs3821007	0.85[MEX][hapmap]
rs56748987	0.83[ASN][1000 genomes]
rs57157809	0.83[AMR][1000 genomes]
rs58442170	0.83[AMR][1000 genomes]
rs58585905	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60097472	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61190950	0.87[AMR][1000 genomes]
rs6716206	0.82[CHB][hapmap]
rs71423509	0.83[ASN][1000 genomes]
rs73034255	0.87[AMR][1000 genomes]
rs73034264	0.83[AMR][1000 genomes]
rs73034271	0.83[AMR][1000 genomes]
rs73034272	0.83[AMR][1000 genomes]
rs73034273	0.87[AMR][1000 genomes]
rs73034286	0.83[AMR][1000 genomes]
rs73034288	0.87[AMR][1000 genomes]
rs73034292	0.87[AMR][1000 genomes]
rs73036088	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73036090	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73036091	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs753346	0.84[CHB][hapmap];0.83[ASN][1000 genomes]
rs7558482	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7567851	1.00[GIH][hapmap];0.85[TSI][hapmap]
rs7570981	0.87[CHD][hapmap];0.85[ASN][1000 genomes]
rs7592459	0.83[ASN][1000 genomes]
rs7595421	0.83[ASN][1000 genomes]
rs7609487	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178745200-178750000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:178746000-178759200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:178747000-178750000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:178747800-178750600	Enhancers	Psoas Muscle	Psoas
6	chr2:178748000-178751000	Weak transcription	Liver	Liver

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