Variant report

Variant	rs16941662
Chromosome Location	chr17:45287504-45287505
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45264884..45268790-chr17:45285196..45288860,4	K562	blood:
2	chr17:45264174..45269379-chr17:45283146..45288200,6	K562	blood:
3	chr17:45252852..45255226-chr17:45287274..45289191,2	K562	blood:
4	chr17:45286922..45288937-chr17:45391804..45393844,2	K562	blood:

Variant related genes	Relation type
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11079760	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11570468	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11570511	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11570546	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12601027	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16941622	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3785874	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809858	0.92[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58422248	0.85[AFR][1000 genomes]
rs66945411	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67305320	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67861319	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72823428	0.85[AFR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45281000-45288400	Enhancers	Fetal Thymus	thymus
2	chr17:45283000-45289600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:45283400-45287600	Weak transcription	Psoas Muscle	Psoas
4	chr17:45283400-45287800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:45283400-45288000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr17:45283600-45287800	Weak transcription	Osteobl	bone
7	chr17:45284400-45293400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr17:45286000-45288000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr17:45286000-45288200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:45286000-45288200	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr17:45286000-45288200	Enhancers	Fetal Stomach	stomach
12	chr17:45286000-45288400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:45286000-45288400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:45286000-45288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:45286000-45288400	Enhancers	Placenta	Placenta
16	chr17:45286000-45288400	Enhancers	Left Ventricle	heart
17	chr17:45286000-45288400	Enhancers	Right Ventricle	heart
18	chr17:45286200-45288000	Enhancers	Placenta Amnion	Placenta Amnion
19	chr17:45286200-45288000	Active TSS	HSMMtube	muscle
20	chr17:45286200-45289200	Active TSS	Fetal Heart	heart
21	chr17:45286200-45290800	Active TSS	Right Atrium	heart
22	chr17:45286400-45288400	Flanking Active TSS	HSMM	muscle
23	chr17:45286600-45289800	Weak transcription	GM12878-XiMat	blood
24	chr17:45286600-45296200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr17:45287000-45287600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:45287000-45287800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:45287000-45288000	Active TSS	K562	blood
28	chr17:45287000-45288400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr17:45287000-45294200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr17:45287400-45288000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:45287400-45288000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:45287400-45288000	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr17:45287400-45288000	Enhancers	Lung	lung
34	chr17:45287400-45288200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr17:45287400-45288200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:45287400-45288400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:45287400-45288400	Enhancers	Fetal Lung	lung
38	chr17:45287400-45288400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr17:45287400-45288600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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