Variant report

Variant	rs56216064
Chromosome Location	chr15:50404870-50404871
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10519259	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414018	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28416764	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2899454	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3985833	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4143837	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62021719	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7168944	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170781	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7172916	0.88[ASN][1000 genomes]
rs7173633	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv569395	chr15:50345393-50437494	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50399200-50407200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:50399800-50407800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:50401400-50405000	Weak transcription	Spleen	Spleen
4	chr15:50402200-50405000	Weak transcription	Liver	Liver
5	chr15:50402200-50406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:50402600-50405800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:50402600-50407800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr15:50403400-50409000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
9	chr15:50403600-50409000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50403800-50405000	Enhancers	K562	blood
11	chr15:50403800-50405600	Active TSS	Brain Hippocampus Middle	brain
12	chr15:50403800-50411200	Weak transcription	Thymus	Thymus
13	chr15:50404000-50405600	Active TSS	Fetal Muscle Leg	muscle
14	chr15:50404400-50405400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
15	chr15:50404400-50405600	Active TSS	Adipose Nuclei	Adipose
16	chr15:50404400-50405600	Active TSS	Placenta	Placenta
17	chr15:50404400-50406800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr15:50404600-50405000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr15:50404600-50405200	Weak transcription	Fetal Thymus	thymus
20	chr15:50404600-50405200	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr15:50404600-50405400	Active TSS	Duodenum Mucosa	Duodenum
22	chr15:50404600-50405400	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr15:50404600-50405800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:50404800-50405200	Active TSS	Primary B cells from cord blood	blood
25	chr15:50404800-50405200	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr15:50404800-50405400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr15:50404800-50405400	Active TSS	Stomach Smooth Muscle	stomach

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