Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96405505..96407862-chr5:96413976..96415782,2	K562	blood:

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10059209	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs17087294	0.87[ASN][1000 genomes]
rs17592834	0.86[ASN][1000 genomes]
rs17630580	0.82[JPT][hapmap]
rs4333338	1.00[EUR][1000 genomes]
rs56295110	0.91[ASN][1000 genomes]
rs57196504	0.91[ASN][1000 genomes]
rs57204547	0.91[ASN][1000 genomes]
rs57608661	0.91[ASN][1000 genomes]
rs57806518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58477147	1.00[EUR][1000 genomes]
rs59041418	0.91[ASN][1000 genomes]
rs59152856	0.91[ASN][1000 genomes]
rs59781414	0.91[ASN][1000 genomes]
rs59898871	0.91[ASN][1000 genomes]
rs60510178	0.91[ASN][1000 genomes]
rs6862188	0.87[EUR][1000 genomes]
rs6865929	0.91[ASN][1000 genomes]
rs6867338	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6884540	0.91[ASN][1000 genomes]
rs6887763	0.91[ASN][1000 genomes]
rs6888479	0.91[ASN][1000 genomes]
rs73141192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141197	0.91[ASN][1000 genomes]
rs769336	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs769338	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7702914	0.91[ASN][1000 genomes]
rs7702930	0.91[ASN][1000 genomes]
rs7703449	0.91[ASN][1000 genomes]
rs7720052	0.91[ASN][1000 genomes]
rs7723473	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96403400-96411200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:96405800-96408400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:96405800-96409400	Enhancers	Fetal Muscle Leg	muscle
4	chr5:96406000-96407800	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:96406400-96408600	Enhancers	Colon Smooth Muscle	Colon
6	chr5:96407000-96407600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:96407200-96407600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:96407200-96407600	Enhancers	NHDF-Ad	bronchial
9	chr5:96407200-96408800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:96407400-96408000	Enhancers	Psoas Muscle	Psoas
11	chr5:96407400-96408400	Enhancers	Fetal Kidney	kidney
12	chr5:96407400-96408600	Enhancers	Skeletal Muscle Female	skeletal muscle

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