Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76563429..76565224-chr1:76569257..76571060,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10493579	1.00[YRI][hapmap]
rs10493582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10873866	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs11585383	1.00[YRI][hapmap]
rs1251568	0.86[CHB][hapmap]
rs1251570	0.86[CHB][hapmap]
rs1251573	0.86[CHB][hapmap]
rs1335740	1.00[YRI][hapmap]
rs17609727	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17609913	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17660501	1.00[YRI][hapmap]
rs17660531	1.00[YRI][hapmap]
rs17660966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2631778	1.00[YRI][hapmap]
rs2992502	1.00[YRI][hapmap]
rs3011997	1.00[YRI][hapmap]
rs387214	1.00[YRI][hapmap]
rs423152	1.00[YRI][hapmap]
rs434633	1.00[YRI][hapmap]
rs603022	1.00[YRI][hapmap]
rs681280	1.00[YRI][hapmap]
rs72674437	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76542800-76572000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:76559600-76566800	Weak transcription	Fetal Lung	lung
6	chr1:76560000-76571000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:76560200-76573400	Weak transcription	Brain Angular Gyrus	brain
8	chr1:76561800-76569200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:76561800-76572000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:76562000-76566400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:76562200-76571400	Weak transcription	Fetal Kidney	kidney
12	chr1:76564800-76565400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:76565000-76565400	Enhancers	Fetal Brain Male	brain

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