Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:211721060..211723722-chr1:211744392..211746338,2	K562	blood:
2	chr1:211720115..211724286-chr1:211726481..211730427,4	K562	blood:
3	chr1:211721919..211725737-chr1:211730323..211735223,5	MCF-7	breast:
4	chr1:211721376..211723554-chr1:211750569..211753280,2	K562	blood:
5	chr1:211720646..211723922-chr1:211723928..211727458,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2099949	0.81[ASN][1000 genomes]
rs34414069	0.81[ASN][1000 genomes]
rs60320773	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12565970	DTL	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211716600-211725000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:211720200-211726000	Enhancers	Fetal Intestine Small	intestine
3	chr1:211720800-211723600	Enhancers	Fetal Heart	heart
4	chr1:211720800-211726000	Enhancers	Fetal Intestine Large	intestine
5	chr1:211721400-211723200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:211721600-211723200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:211721600-211723200	Enhancers	Aorta	Aorta
8	chr1:211721600-211723200	Enhancers	Left Ventricle	heart
9	chr1:211721800-211723200	Enhancers	Fetal Muscle Leg	muscle
10	chr1:211722000-211723200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:211722000-211723200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr1:211722200-211723200	Enhancers	Fetal Thymus	thymus
13	chr1:211722200-211725000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:211722400-211723200	Enhancers	Colon Smooth Muscle	Colon
15	chr1:211722600-211724400	Enhancers	K562	blood
16	chr1:211723000-211723200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:211723000-211723400	Enhancers	Brain Anterior Caudate	brain
18	chr1:211723000-211724400	Weak transcription	Placenta	Placenta
19	chr1:211723000-211725000	Enhancers	Hela-S3	cervix
20	chr1:211723000-211725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:211723000-211725200	Weak transcription	Duodenum Mucosa	Duodenum

Quick Search: