Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:52810247..52812644-chr8:52840469..52844124,3	K562	blood:
2	chr8:52812165..52814815-chr8:52841897..52844740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228801	Chromatin interaction
ENSG00000168300	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10086504	0.96[YRI][hapmap]
rs10087958	0.87[CEU][hapmap];0.94[CHB][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10101163	0.96[YRI][hapmap]
rs10453128	0.81[ASN][1000 genomes]
rs11787499	0.97[YRI][hapmap]
rs1589079	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16916952	0.96[YRI][hapmap]
rs16916968	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2138297	0.89[ASN][1000 genomes]
rs2176119	0.89[ASN][1000 genomes]
rs4242479	0.96[YRI][hapmap]
rs6473666	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813414	0.96[ASN][1000 genomes]
rs7817558	0.81[ASN][1000 genomes]
rs7817892	0.81[ASN][1000 genomes]
rs7819892	0.98[ASN][1000 genomes]
rs7820177	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7833668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7834181	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7838307	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs877248	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.98[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	nsv817615	chr8:52252405-53023384	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1018429	chr8:52411443-52878946	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1034856	chr8:52411443-52886765	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16916966	LOC286071	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52814200-52850000	Weak transcription	Spleen	Spleen
2	chr8:52815000-52852000	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:52822600-52860200	Weak transcription	Fetal Muscle Leg	muscle
4	chr8:52831800-52858400	Weak transcription	Primary T cells from cord blood	blood
5	chr8:52831800-52863400	Weak transcription	Aorta	Aorta
6	chr8:52837800-52851800	Weak transcription	Ovary	ovary
7	chr8:52838000-52853400	Weak transcription	Esophagus	oesophagus
8	chr8:52841000-52843800	Enhancers	HUVEC	blood vessel
9	chr8:52841600-52852000	Weak transcription	Lung	lung
10	chr8:52841800-52844600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:52841800-52845200	Weak transcription	Psoas Muscle	Psoas
12	chr8:52842200-52843600	Weak transcription	Pancreas	Pancrea
13	chr8:52842200-52845800	Weak transcription	Right Atrium	heart
14	chr8:52842200-52851800	Weak transcription	Left Ventricle	heart
15	chr8:52842400-52843800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:52842400-52850800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:52842600-52851000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:52843000-52843400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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