Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179078656..179081622-chr2:179106356..179108991,2	K562	blood:
2	chr2:179076997..179079458-chr2:179080638..179082932,3	K562	blood:

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10930827	0.87[JPT][hapmap]
rs13403689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186736	0.86[JPT][hapmap]
rs2366157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333996	0.87[JPT][hapmap]
rs334002	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs334005	0.87[JPT][hapmap]
rs334007	0.87[JPT][hapmap]
rs334014	0.80[JPT][hapmap]
rs334017	0.87[JPT][hapmap]
rs334024	0.83[JPT][hapmap]
rs334028	0.82[JPT][hapmap]
rs334032	0.93[YRI][hapmap]
rs334035	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs334037	0.82[JPT][hapmap]
rs334040	0.86[JPT][hapmap]
rs334042	0.86[JPT][hapmap]
rs334045	0.86[JPT][hapmap]
rs334102	0.93[JPT][hapmap]
rs334103	0.93[JPT][hapmap]
rs334110	0.93[JPT][hapmap]
rs6719178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6731799	0.93[YRI][hapmap]
rs6747743	0.84[ASN][1000 genomes]
rs73028670	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73028675	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7419749	0.87[JPT][hapmap]
rs7581504	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9989738	0.80[JPT][hapmap]

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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179076600-179081400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:179076600-179087600	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:179076600-179088000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:179077200-179088200	Weak transcription	Brain Anterior Caudate	brain
5	chr2:179077200-179089600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:179078600-179086200	Weak transcription	HMEC	breast
7	chr2:179078600-179091800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:179078800-179081000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:179078800-179084200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:179078800-179088400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:179079000-179081600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:179079000-179084200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:179079000-179088200	Weak transcription	Fetal Brain Female	brain
14	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:179080400-179081400	Weak transcription	Psoas Muscle	Psoas

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