Variant report

Variant	rs17462448
Chromosome Location	chr11:16359567-16359568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16357700..16360126-chr11:16394336..16397110,2	K562	blood:
2	chr11:16357549..16359818-chr11:16628155..16630353,2	K562	blood:
3	chr11:16348563..16352653-chr11:16357412..16360331,4	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11023883	0.87[EUR][1000 genomes]
rs11023888	0.87[EUR][1000 genomes]
rs11023895	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11023911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11023919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11023922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11512059	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17539593	0.86[AMR][1000 genomes];0.87[EUR][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	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv553566	chr11:16329009-16799044	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 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	chr11:16319400-16377600	Weak transcription	Psoas Muscle	Psoas
2	chr11:16345800-16367000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:16348400-16362600	Weak transcription	Left Ventricle	heart
4	chr11:16348800-16368600	Weak transcription	Brain Germinal Matrix	brain
5	chr11:16351000-16360000	Weak transcription	Fetal Heart	heart
6	chr11:16353000-16361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:16354800-16360400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr11:16356800-16360800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:16357400-16360200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:16357400-16360200	Enhancers	Fetal Intestine Large	intestine
11	chr11:16358000-16359800	Enhancers	K562	blood
12	chr11:16358000-16360800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:16358200-16360400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:16358200-16366800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:16358200-16368600	Weak transcription	Pancreas	Pancrea
16	chr11:16358400-16359800	Weak transcription	Fetal Kidney	kidney
17	chr11:16358400-16360600	Weak transcription	Small Intestine	intestine
18	chr11:16358600-16359800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:16358800-16359600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:16359000-16360200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:16359000-16360200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:16359000-16360800	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:16359000-16360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:16359000-16361000	Enhancers	Fetal Intestine Small	intestine
25	chr11:16359400-16360200	Enhancers	Primary T cells from cord blood	blood

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