Variant report

Variant	rs17017563
Chromosome Location	chr4:144216590-144216591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:144213803..144215459-chr4:144216493..144217994,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17017629	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs17017662	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs28377860	1.00[ASN][1000 genomes]
rs28448391	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28676298	1.00[ASN][1000 genomes]
rs28680635	1.00[ASN][1000 genomes]
rs34420992	0.90[AFR][1000 genomes]
rs6825973	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72947118	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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144209000-144217800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:144212200-144216800	Enhancers	Colon Smooth Muscle	Colon
3	chr4:144213000-144217400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:144213000-144217400	Weak transcription	NHEK	skin
5	chr4:144213600-144216800	Enhancers	Rectal Smooth Muscle	rectum
6	chr4:144213600-144217600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:144214200-144216800	Enhancers	Fetal Stomach	stomach
8	chr4:144214200-144217400	Weak transcription	HMEC	breast
9	chr4:144215000-144216600	Enhancers	Adipose Nuclei	Adipose
10	chr4:144215000-144217000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:144215200-144216600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:144215200-144216800	Enhancers	Fetal Lung	lung
13	chr4:144215200-144216800	Enhancers	Placenta	Placenta
14	chr4:144215400-144216800	Enhancers	Fetal Heart	heart
15	chr4:144215400-144216800	Enhancers	Fetal Intestine Small	intestine
16	chr4:144215600-144216600	Enhancers	NHDF-Ad	bronchial
17	chr4:144215600-144216800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:144215600-144216800	Enhancers	Fetal Muscle Leg	muscle
19	chr4:144215600-144216800	Enhancers	NHLF	lung
20	chr4:144215800-144216600	Enhancers	Lung	lung
21	chr4:144216000-144217800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr4:144216000-144219000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:144216000-144222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:144216000-144223000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:144216200-144216800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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