Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:2060219..2062148-chr8:2064179..2066993,2	K562	blood:
2	chr8:2059520..2062048-chr8:2062116..2064224,2	K562	blood:

Variant related genes	Relation type
ENSG00000036448	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1043221	1.00[CHB][hapmap]
rs1043225	1.00[CHB][hapmap]
rs1043226	1.00[CHB][hapmap]
rs11136467	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547598	1.00[ASN][1000 genomes]
rs13257924	1.00[CHB][hapmap]
rs13276575	1.00[CHB][hapmap]
rs14375	1.00[CHB][hapmap]
rs17683288	1.00[CHD][hapmap]
rs17684547	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751773	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34053376	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34397313	1.00[ASN][1000 genomes]
rs35528480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3779830	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3824186	1.00[CHB][hapmap]
rs4598291	1.00[CHB][hapmap]
rs6558566	1.00[CHB][hapmap]
rs6984792	1.00[CHB][hapmap]
rs7012346	0.84[AMR][1000 genomes]
rs7015556	1.00[CHB][hapmap]
rs7386016	1.00[CHB][hapmap]
rs7386994	1.00[CHB][hapmap]
rs9644316	1.00[CHB][hapmap]

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	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17751791	HMG20A	trans	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:2023600-2067000	Weak transcription	Right Atrium	heart
2	chr8:2034600-2074200	Weak transcription	Fetal Heart	heart
3	chr8:2035000-2075000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:2049800-2061800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:2050000-2070000	Weak transcription	Psoas Muscle	Psoas
6	chr8:2053400-2074000	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:2053800-2062200	Strong transcription	Left Ventricle	heart
8	chr8:2057600-2066400	Weak transcription	Fetal Kidney	kidney
9	chr8:2057800-2063400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:2058200-2065600	Weak transcription	Fetal Muscle Leg	muscle
11	chr8:2059400-2062600	Enhancers	Fetal Thymus	thymus
12	chr8:2060000-2061400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr8:2060200-2061800	Weak transcription	Primary B cells from cord blood	blood
14	chr8:2060800-2061600	ZNF genes & repeats	Spleen	Spleen
15	chr8:2060800-2062000	Strong transcription	Right Ventricle	heart
16	chr8:2061000-2061600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr8:2061000-2061800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
18	chr8:2061000-2062000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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