Variant report

Variant	rs17539593
Chromosome Location	chr11:16261098-16261099
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16254762..16258115-chr11:16260794..16264082,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10128558	0.83[CEU][hapmap]
rs10160356	0.83[CEU][hapmap]
rs10832583	0.83[CEU][hapmap]
rs10832595	0.83[CEU][hapmap]
rs10832596	0.85[CEU][hapmap]
rs11023876	1.00[CEU][hapmap]
rs11023877	1.00[CEU][hapmap]
rs11023883	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11023888	1.00[CEU][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11023895	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11023905	0.83[CEU][hapmap]
rs11023911	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11023919	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11023922	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11512059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1393923	0.83[CEU][hapmap]
rs16932896	0.83[CEU][hapmap]
rs17462448	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2351959	0.83[CEU][hapmap]
rs2351960	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv897012	chr11:16189326-16283644	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv897013	chr11:16206658-16307700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv897014	chr11:16211343-16283644	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv467710	chr11:16219341-16266740	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv553564	chr11:16219341-16266740	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv553565	chr11:16220289-16307700	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv897015	chr11:16235962-16307700	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16248200-16274200	Weak transcription	Pancreas	Pancrea
2	chr11:16256200-16272000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:16258600-16264200	Enhancers	Fetal Heart	heart
4	chr11:16260400-16261600	Enhancers	Fetal Brain Female	brain
5	chr11:16260400-16262000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:16260600-16261200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:16260600-16261200	Flanking Active TSS	K562	blood
8	chr11:16260600-16261400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:16260600-16261400	Enhancers	Brain Germinal Matrix	brain
10	chr11:16260600-16261400	Enhancers	Fetal Stomach	stomach
11	chr11:16260600-16261400	Enhancers	Left Ventricle	heart
12	chr11:16260600-16261400	Enhancers	NHLF	lung
13	chr11:16260600-16261600	Enhancers	Fetal Lung	lung
14	chr11:16260800-16261200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr11:16260800-16261200	Flanking Active TSS	Psoas Muscle	Psoas
16	chr11:16260800-16261200	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr11:16260800-16261200	Active TSS	HSMMtube	muscle
18	chr11:16260800-16261400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:16260800-16261400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:16260800-16261400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:16260800-16261400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:16260800-16261600	Enhancers	Fetal Muscle Leg	muscle
23	chr11:16260800-16262400	Enhancers	Fetal Brain Male	brain
24	chr11:16261000-16261400	Enhancers	Right Atrium	heart
25	chr11:16261000-16261400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr11:16261000-16261400	Enhancers	Stomach Smooth Muscle	stomach

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