Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68891942..68893577-chr14:69259383..69261752,2	MCF-7	breast:
2	chr14:68891874..68894078-chr14:68933895..68936431,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

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

rs_ID	r²[population]
rs10130623	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10131303	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10133531	0.83[ASN][1000 genomes]
rs10135443	1.00[ASN][1000 genomes]
rs10142381	0.91[ASN][1000 genomes]
rs10144394	0.88[ASN][1000 genomes]
rs10145082	0.83[ASN][1000 genomes]
rs10145446	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149278	0.88[ASN][1000 genomes]
rs10151245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11625077	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626013	0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626015	0.88[ASN][1000 genomes]
rs11846851	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1570107	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105664	0.88[ASN][1000 genomes]
rs28376370	0.83[ASN][1000 genomes]
rs28655994	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784127	0.91[ASN][1000 genomes]
rs60145217	0.91[ASN][1000 genomes]
rs73276276	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68882400-68893400	Weak transcription	Fetal Intestine Small	intestine
2	chr14:68885200-68893600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:68886200-68894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:68886600-68903200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:68888000-68893400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:68888000-68901000	Weak transcription	Primary T cells from cord blood	blood
7	chr14:68888200-68892600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:68888200-68893200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:68888800-68893600	Weak transcription	Lung	lung
10	chr14:68889000-68893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:68891400-68893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:68891800-68892600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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