Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68893378..68896303-chr14:69260766..69262455,2	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:25)

rs_ID	r²[population]
rs10132294	0.81[JPT][hapmap]
rs10138140	0.96[GIH][hapmap]
rs10146772	0.83[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap]
rs10149463	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10162434	0.91[JPT][hapmap]
rs10467820	0.96[GIH][hapmap];0.81[MEX][hapmap]
rs11158743	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs12886864	0.96[GIH][hapmap];0.87[MEX][hapmap]
rs1468279	0.96[GIH][hapmap];0.81[MEX][hapmap]
rs2074563	0.96[GIH][hapmap];0.81[MEX][hapmap]
rs2074565	0.96[GIH][hapmap];0.87[MEX][hapmap]
rs2097800	0.96[GIH][hapmap];0.81[MEX][hapmap]
rs2145424	0.80[ASN][1000 genomes]
rs2331701	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2331702	0.81[ASN][1000 genomes]
rs2877465	0.83[JPT][hapmap]
rs4325481	0.81[ASN][1000 genomes]
rs4902579	0.82[JPT][hapmap]
rs4902583	0.82[JPT][hapmap]
rs4902584	0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs746663	0.95[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap]
rs8012610	0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs8013236	0.81[JPT][hapmap]
rs9323508	0.84[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap]
rs9743618	0.81[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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68886200-68894800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:68886600-68903200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:68888000-68901000	Weak transcription	Primary T cells from cord blood	blood
4	chr14:68893600-68894200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:68893600-68894200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:68893600-68894200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr14:68893600-68894800	Flanking Active TSS	A549	lung
8	chr14:68893800-68894200	Enhancers	Stomach Mucosa	stomach
9	chr14:68894000-68894400	Weak transcription	Fetal Intestine Small	intestine
10	chr14:68894000-68894600	Enhancers	Rectal Mucosa Donor 31	rectum

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