Variant report

Variant	rs60020506
Chromosome Location	chr15:50136309-50136310
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11070732	0.93[ASN][1000 genomes]
rs11635372	0.88[ASN][1000 genomes]
rs11855174	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12909220	0.85[ASN][1000 genomes]
rs12909948	0.93[ASN][1000 genomes]
rs16962929	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16962955	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16962997	0.84[ASN][1000 genomes]
rs1911609	0.81[EUR][1000 genomes]
rs28369666	0.89[ASN][1000 genomes]
rs28391660	0.84[ASN][1000 genomes]
rs34693309	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34760149	0.92[ASN][1000 genomes]
rs4414432	0.81[EUR][1000 genomes]
rs57169939	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61347161	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6493382	0.90[ASN][1000 genomes]
rs7178500	0.93[ASN][1000 genomes]
rs7180532	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181711	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8028196	0.85[ASN][1000 genomes]
rs8030539	0.88[ASN][1000 genomes]
rs8034348	0.97[ASN][1000 genomes]
rs8042949	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv833003	chr15:50100372-50273309	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50124800-50139200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:50130000-50138200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:50130800-50138400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:50131000-50137800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
5	chr15:50131000-50138200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr15:50131600-50138000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
7	chr15:50132400-50141200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:50134400-50140200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:50134600-50139600	Weak transcription	Ovary	ovary
10	chr15:50134800-50136400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:50134800-50140200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:50135000-50136600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:50135000-50137800	Weak transcription	Spleen	Spleen
14	chr15:50135000-50139000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:50135200-50137400	Enhancers	Fetal Intestine Small	intestine
16	chr15:50135200-50181400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:50135400-50139600	Weak transcription	HSMMtube	muscle
18	chr15:50135800-50136600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr15:50135800-50187400	Weak transcription	Liver	Liver
20	chr15:50136000-50136400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr15:50136000-50136400	Enhancers	NH-A	brain
22	chr15:50136000-50136400	Enhancers	Osteobl	bone
23	chr15:50136000-50136600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:50136000-50136600	Enhancers	A549	lung
25	chr15:50136000-50136800	Enhancers	Hela-S3	cervix
26	chr15:50136000-50137400	Enhancers	Fetal Intestine Large	intestine
27	chr15:50136000-50137400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr15:50136000-50138200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr15:50136200-50136600	Enhancers	Placenta	Placenta
30	chr15:50136200-50136800	Enhancers	Colonic Mucosa	Colon
31	chr15:50136200-50137000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:50136200-50137000	Strong transcription	Adipose Nuclei	Adipose
33	chr15:50136200-50137200	Enhancers	Duodenum Mucosa	Duodenum

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