Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210394665..210397584-chr1:210404970..210407618,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082497	Chromatin interaction
ENSG00000203706	Chromatin interaction

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10863816	0.94[EUR][1000 genomes]
rs11119444	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12239420	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1338298	0.94[EUR][1000 genomes]
rs1342135	0.89[ASN][1000 genomes]
rs1473696	0.94[EUR][1000 genomes]
rs2473813	0.90[EUR][1000 genomes]
rs2473814	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2487904	0.88[ASN][1000 genomes]
rs2494180	0.88[ASN][1000 genomes]
rs2494185	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2494186	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs624270	0.90[ASN][1000 genomes]
rs654523	0.90[ASN][1000 genomes]
rs656312	0.89[ASN][1000 genomes]
rs660611	0.84[ASN][1000 genomes]
rs674513	0.85[ASN][1000 genomes]
rs677520	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7534368	0.93[EUR][1000 genomes]
rs845451	0.82[ASN][1000 genomes]
rs910109	0.86[EUR][1000 genomes]
rs910110	0.86[EUR][1000 genomes]
rs9429839	0.86[EUR][1000 genomes]
rs9430037	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4844981	SYT14,SYT14L	cis	intralobular white matter	BrainEAC

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210395200-210397200	Enhancers	Rectal Smooth Muscle	rectum
2	chr1:210395800-210397200	Enhancers	Colon Smooth Muscle	Colon
3	chr1:210396000-210397200	Enhancers	Duodenum Mucosa	Duodenum
4	chr1:210396000-210397200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:210396000-210397200	Enhancers	Stomach Smooth Muscle	stomach
6	chr1:210396000-210397600	Enhancers	Fetal Kidney	kidney
7	chr1:210396200-210397200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:210396200-210397200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210396200-210397200	Enhancers	Small Intestine	intestine
10	chr1:210396200-210397200	Enhancers	Stomach Mucosa	stomach
11	chr1:210396200-210397200	Bivalent Enhancer	NHDF-Ad	bronchial
12	chr1:210396400-210397200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:210397000-210397600	Enhancers	Rectal Mucosa Donor 29	rectum

Quick Search: