Variant report

Variant	rs62113151
Chromosome Location	chr19:36749559-36749560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12459247	0.83[AMR][1000 genomes]
rs12459248	0.84[AMR][1000 genomes]
rs12460466	0.82[AMR][1000 genomes]
rs12463157	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414272	0.80[AMR][1000 genomes]
rs28528757	0.85[AMR][1000 genomes]
rs4806293	0.83[AMR][1000 genomes]
rs4806295	0.86[AMR][1000 genomes]
rs4806303	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55697131	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56316708	0.81[AMR][1000 genomes]
rs58395495	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59026641	0.81[AMR][1000 genomes]
rs62113146	0.88[AMR][1000 genomes]
rs62113148	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62113149	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62113152	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73040107	0.83[AMR][1000 genomes]
rs73040113	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73040148	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041817	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113088	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1063208	chr19:36743461-36847486	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv961212	chr19:36744378-36801298	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv960831	chr19:36744378-36813769	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62113151	ZNF545	Cis_1M	lymphoblastoid	RTeQTL
rs62113151	LINC00665	cis	Nerve Tibial	GTEx
rs62113151	LINC00665	cis	Muscle Skeletal	GTEx
rs62113151	LINC00665	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36739600-36756800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:36745800-36750600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:36747000-36750000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr19:36747800-36749600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr19:36747800-36749600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:36747800-36749600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr19:36747800-36749800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:36747800-36749800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:36748000-36749600	ZNF genes & repeats	Liver	Liver
10	chr19:36748000-36749600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:36748800-36762800	Weak transcription	Right Atrium	heart
12	chr19:36749000-36749600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:36749200-36749600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:36749200-36749600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:36749200-36749600	ZNF genes & repeats	Fetal Brain Female	brain
16	chr19:36749200-36762800	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:36749200-36764800	Weak transcription	Brain Substantia Nigra	brain
18	chr19:36749400-36749600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:36749400-36749600	Enhancers	Brain Hippocampus Middle	brain
20	chr19:36749400-36749600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr19:36749400-36749600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr19:36749400-36749800	Enhancers	Brain Anterior Caudate	brain
23	chr19:36749400-36749800	Enhancers	Brain Cingulate Gyrus	brain
24	chr19:36749400-36762600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:36749400-36764200	Weak transcription	Brain Angular Gyrus	brain

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