Variant report

Variant	rs62000511
Chromosome Location	chr15:58522619-58522620
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11855432	0.86[ASN][1000 genomes]
rs1320053	0.86[ASN][1000 genomes]
rs1663251	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1663252	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1663257	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16939937	0.84[ASN][1000 genomes]
rs1711033	0.86[ASN][1000 genomes]
rs2414558	0.81[ASN][1000 genomes]
rs2899620	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55803039	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55825503	0.86[ASN][1000 genomes]
rs56168508	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57753445	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs62000517	0.87[ASN][1000 genomes]
rs6493989	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7175693	0.86[ASN][1000 genomes]
rs7175710	0.86[ASN][1000 genomes]
rs7182088	0.86[ASN][1000 genomes]
rs8034444	0.86[ASN][1000 genomes]
rs8034953	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58520200-58523400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr15:58520200-58523400	Enhancers	NHEK	skin
3	chr15:58520400-58522800	Enhancers	Psoas Muscle	Psoas
4	chr15:58520400-58523200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr15:58520400-58523200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:58520400-58523200	Enhancers	Left Ventricle	heart
7	chr15:58520400-58523200	Enhancers	Right Atrium	heart
8	chr15:58520400-58523600	Enhancers	HMEC	breast
9	chr15:58520600-58523200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:58520600-58523400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:58521200-58523200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:58521200-58524400	Weak transcription	Pancreas	Pancrea
13	chr15:58521400-58523200	Enhancers	Fetal Heart	heart
14	chr15:58521400-58525400	Weak transcription	Hela-S3	cervix
15	chr15:58521400-58534200	Weak transcription	Liver	Liver
16	chr15:58521600-58524000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:58521800-58523400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:58522000-58522800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:58522000-58522800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:58522000-58523200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr15:58522000-58523200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr15:58522000-58523200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:58522000-58523200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr15:58522000-58525600	Weak transcription	A549	lung
25	chr15:58522200-58522800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:58522200-58523200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:58522200-58523400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:58522200-58523600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr15:58522200-58523600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:58522200-58523600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr15:58522400-58522800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:58522400-58523000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr15:58522400-58523000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr15:58522400-58523200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr15:58522400-58523200	Enhancers	Brain Angular Gyrus	brain
36	chr15:58522400-58523200	Enhancers	Brain Anterior Caudate	brain
37	chr15:58522400-58523400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr15:58522400-58523400	Enhancers	Brain Substantia Nigra	brain
39	chr15:58522400-58524400	Weak transcription	HSMM	muscle
40	chr15:58522400-58526200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:58522400-58528400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:58522600-58522800	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr15:58522600-58523000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:58522600-58523000	Enhancers	Brain Cingulate Gyrus	brain
45	chr15:58522600-58523000	Enhancers	Fetal Muscle Trunk	muscle
46	chr15:58522600-58523200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr15:58522600-58523200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:58522600-58523200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr15:58522600-58523200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr15:58522600-58523200	Enhancers	Primary monocytes fromperipheralblood	blood

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