Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191464759..191466338-chr2:191468193..191471068,2	K562	blood:
2	chr2:191398124..191401338-chr2:191468460..191472195,4	K562	blood:

Variant related genes	Relation type
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10165399	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10173771	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11680758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12611871	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006708	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28452331	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4321393	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4853513	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6724607	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7598979	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7603849	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630991	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6434402	HIBCH	cis	Muscle Skeletal	GTEx

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
2	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
3	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
4	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:191463800-191470600	Weak transcription	HMEC	breast
6	chr2:191464800-191471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:191464800-191471800	Weak transcription	Right Atrium	heart
8	chr2:191464800-191472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:191465000-191471800	Weak transcription	Right Ventricle	heart
10	chr2:191465400-191470000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:191465600-191471600	Weak transcription	HSMMtube	muscle
12	chr2:191467000-191469600	Enhancers	Brain Angular Gyrus	brain
13	chr2:191467200-191469400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:191467200-191470000	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:191467200-191470000	Enhancers	Brain Hippocampus Middle	brain
16	chr2:191467400-191469400	Enhancers	A549	lung
17	chr2:191468000-191473200	Enhancers	Fetal Heart	heart
18	chr2:191468200-191471600	Weak transcription	NHLF	lung
19	chr2:191468400-191471200	Weak transcription	Left Ventricle	heart
20	chr2:191468800-191469400	Enhancers	Brain Anterior Caudate	brain
21	chr2:191468800-191469400	Enhancers	Brain Substantia Nigra	brain
22	chr2:191468800-191470800	Enhancers	Hela-S3	cervix

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