Variant report

Variant	rs1405648
Chromosome Location	chr2:178748294-178748295
allele	A/C
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: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10201731	0.80[ASN][1000 genomes]
rs10497480	0.81[CHB][hapmap]
rs11899873	0.86[ASN][1000 genomes]
rs12618253	0.81[ASN][1000 genomes]
rs13018609	0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs13021998	0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1370661	0.82[JPT][hapmap]
rs1405647	0.82[JPT][hapmap]
rs1405650	0.82[JPT][hapmap]
rs1405651	0.82[JPT][hapmap]
rs1438051	0.82[JPT][hapmap]
rs1438064	0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs16865819	0.87[ASN][1000 genomes]
rs16865901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865906	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866000	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs17329531	0.81[CHB][hapmap];0.81[CHD][hapmap];0.85[ASN][1000 genomes]
rs17330075	0.81[CHB][hapmap]
rs1837164	0.82[JPT][hapmap]
rs1898587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083156	0.85[ASN][1000 genomes]
rs2118482	0.82[JPT][hapmap]
rs2365899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695091	0.82[JPT][hapmap]
rs2695092	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2695098	0.82[JPT][hapmap]
rs2695099	0.82[JPT][hapmap]
rs2695740	0.82[JPT][hapmap]
rs2695741	0.81[JPT][hapmap]
rs2695742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3108451	0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs34365395	0.87[ASN][1000 genomes]
rs35873373	0.87[ASN][1000 genomes]
rs3770054	0.81[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs3915272	0.82[JPT][hapmap]
rs4468852	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56748987	0.85[ASN][1000 genomes]
rs6738098	0.81[CHB][hapmap]
rs71423509	0.85[ASN][1000 genomes]
rs753346	0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs7570981	0.88[ASW][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7588062	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs7591800	0.81[CHB][hapmap]
rs7592459	0.85[ASN][1000 genomes]
rs7595421	0.85[ASN][1000 genomes]
rs7595479	0.81[CHB][hapmap]
rs7609487	0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[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	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
5	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 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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