Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:129369660..129371294-chr4:129729631..129731777,2	K562	blood:
2	chr4:129368721..129371421-chr4:129730817..129733366,2	MCF-7	breast:
3	chr4:129368987..129371381-chr4:129472765..129474766,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273077	Chromatin interaction
ENSG00000077684	Chromatin interaction

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

rs_ID	r²[population]
rs12499030	0.85[ASN][1000 genomes]
rs12511843	0.85[ASN][1000 genomes]
rs12648490	0.85[ASN][1000 genomes]
rs17013269	0.85[ASN][1000 genomes]
rs2133465	0.82[CHB][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4305531	0.82[CHB][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56212199	0.85[ASN][1000 genomes]
rs58020409	0.83[ASN][1000 genomes]
rs59296747	0.85[ASN][1000 genomes]
rs59363695	0.85[ASN][1000 genomes]
rs72677867	0.85[ASN][1000 genomes]
rs72677868	0.83[ASN][1000 genomes]
rs72677873	0.85[ASN][1000 genomes]
rs72677874	0.85[ASN][1000 genomes]
rs72677876	0.85[ASN][1000 genomes]
rs72677877	0.85[ASN][1000 genomes]
rs72677891	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72677893	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72677894	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72677896	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72677900	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7691529	0.85[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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	79 gene(s)	inside rSNPs	diseases
2	esv275440	chr4:129362619-129369873	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129363200-129372400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129367000-129370800	Weak transcription	A549	lung
3	chr4:129367200-129372400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:129367200-129375400	Weak transcription	Fetal Intestine Small	intestine
5	chr4:129367200-129376200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:129368800-129376200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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