Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:3071474..3073136-chr4:3075879..3078410,2	MCF-7	breast:
2	chr4:3063869..3067673-chr4:3071743..3074238,3	K562	blood:
3	chr4:3062728..3065376-chr4:3070329..3072702,2	MCF-7	breast:
4	chr4:3065221..3068395-chr4:3071743..3074538,3	K562	blood:
5	chr4:3070733..3073155-chr4:3073597..3075559,3	K562	blood:

Variant related genes	Relation type
ENSG00000197386	Chromatin interaction
ENSG00000251075	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs16843127	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843779	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34045730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57301890	0.82[EUR][1000 genomes]
rs61090955	1.00[EUR][1000 genomes]
rs61791252	0.97[EUR][1000 genomes]
rs61791253	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791254	0.97[EUR][1000 genomes]
rs61791255	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791257	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791258	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61791259	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792460	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792462	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61792464	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73086139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086140	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7674896	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688282	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291159	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3048200-3075200	Weak transcription	Right Atrium	heart
2	chr4:3049600-3074800	Weak transcription	Lung	lung
3	chr4:3058200-3075200	Weak transcription	Psoas Muscle	Psoas
4	chr4:3060800-3074800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:3061000-3074800	Weak transcription	Spleen	Spleen
6	chr4:3061600-3075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:3062200-3075000	Weak transcription	Adipose Nuclei	Adipose
8	chr4:3062600-3074000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:3062600-3074000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:3063800-3075200	Weak transcription	Right Ventricle	heart
11	chr4:3064400-3075000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:3064800-3074800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:3064800-3075000	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr4:3067600-3073800	Weak transcription	NHLF	lung
15	chr4:3068800-3075000	Weak transcription	Primary B cells from cord blood	blood
16	chr4:3069400-3072800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3069600-3073800	Weak transcription	Placenta	Placenta
18	chr4:3069600-3075200	Weak transcription	Brain Hippocampus Middle	brain
19	chr4:3070600-3072800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:3071800-3075000	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:3072200-3075200	Enhancers	Liver	Liver

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