Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:77006287..77011420-chr4:77011515..77015802,5	K562	blood:
2	chr4:77012326..77015299-chr4:77068893..77071066,2	K562	blood:
3	chr4:76909511..76914243-chr4:77012216..77015645,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction
ENSG00000198301	Chromatin interaction

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10017484	1.00[CHB][hapmap]
rs10022137	0.92[ASN][1000 genomes]
rs10022519	0.92[ASN][1000 genomes]
rs10030683	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097232	0.92[ASN][1000 genomes]
rs12331521	0.92[ASN][1000 genomes]
rs13139234	1.00[ASN][1000 genomes]
rs17001248	0.88[YRI][hapmap]
rs17001290	0.88[YRI][hapmap]
rs17001352	1.00[YRI][hapmap]
rs4241591	0.92[ASN][1000 genomes]
rs4274876	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4333205	1.00[CHB][hapmap]
rs4440243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4624679	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859613	1.00[ASN][1000 genomes]
rs4859619	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4859622	0.88[AMR][1000 genomes]
rs6532230	0.82[AMR][1000 genomes]
rs6814012	1.00[CHB][hapmap]
rs6814817	1.00[CHB][hapmap]
rs6857166	0.82[AMR][1000 genomes]
rs7654988	0.92[ASN][1000 genomes]
rs7670789	1.00[CHB][hapmap]
rs7697711	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9990550	0.92[ASN][1000 genomes]
rs9992976	0.92[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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1009047	chr4:76989180-77077885	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77008600-77016800	Weak transcription	Psoas Muscle	Psoas
2	chr4:77012400-77015600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:77012400-77015600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:77012600-77016200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:77012600-77016800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:77012800-77016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:77012800-77016800	Weak transcription	HMEC	breast
8	chr4:77014400-77015400	Weak transcription	Pancreas	Pancrea
9	chr4:77014600-77015000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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