Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120000902..120002481-chr4:120133558..120135375,2	MCF-7	breast:
2	chr4:120001166..120004043-chr4:120014693..120016511,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

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

rs_ID	r²[population]
rs11098478	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1119909	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11729503	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12498258	0.85[ASN][1000 genomes]
rs12509365	0.85[ASN][1000 genomes]
rs12641581	0.85[ASN][1000 genomes]
rs12641599	0.85[ASN][1000 genomes]
rs13101656	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13131041	0.83[ASN][1000 genomes]
rs1964519	0.86[ASN][1000 genomes]
rs2085660	0.85[ASN][1000 genomes]
rs2100709	0.85[ASN][1000 genomes]
rs34601157	0.86[ASN][1000 genomes]
rs35197635	0.86[ASN][1000 genomes]
rs35781568	0.86[ASN][1000 genomes]
rs4438744	0.85[ASN][1000 genomes]
rs4834739	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4834740	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66909626	0.86[ASN][1000 genomes]
rs6831924	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs766350	0.85[ASN][1000 genomes]
rs7670862	0.80[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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119975800-120003000	Weak transcription	Left Ventricle	heart
2	chr4:120001000-120002000	Enhancers	HepG2	liver
3	chr4:120001200-120002000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:120001200-120002000	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr4:120001200-120002000	Flanking Active TSS	A549	lung
6	chr4:120001200-120002400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:120001200-120002400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr4:120001200-120003200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:120001200-120003400	Enhancers	Stomach Mucosa	stomach
10	chr4:120001200-120004000	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:120001600-120002200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:120001600-120002400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:120001600-120002800	Enhancers	Placenta	Placenta
14	chr4:120001800-120002200	Enhancers	Fetal Intestine Small	intestine

Quick Search: