Variant report

Variant	rs57614488
Chromosome Location	chr19:36686943-36686944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10416729	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11673662	0.83[ASN][1000 genomes]
rs12460237	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12608941	0.93[ASN][1000 genomes]
rs2432040	0.84[EUR][1000 genomes]
rs2432044	0.87[EUR][1000 genomes]
rs2432046	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2432048	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2432053	0.84[ASN][1000 genomes]
rs2438515	0.86[EUR][1000 genomes]
rs2438516	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2910681	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2918324	0.86[EUR][1000 genomes]
rs2918376	0.84[ASN][1000 genomes]
rs2918377	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2918381	0.83[ASN][1000 genomes]
rs2972528	0.85[EUR][1000 genomes]
rs2972532	0.87[EUR][1000 genomes]
rs2972535	0.83[ASN][1000 genomes]
rs2972540	0.84[ASN][1000 genomes]
rs2972543	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34912665	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4293497	0.83[EUR][1000 genomes]
rs4315447	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60277419	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6510528	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8107260	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8107616	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv2752541	chr19:36563057-36690874	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57614488	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36669600-36704800	Weak transcription	Psoas Muscle	Psoas
2	chr19:36673800-36704800	Weak transcription	Fetal Kidney	kidney
3	chr19:36674000-36704800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:36674200-36687200	Weak transcription	GM12878-XiMat	blood
5	chr19:36674400-36690000	Weak transcription	NHDF-Ad	bronchial
6	chr19:36674400-36704600	Weak transcription	Fetal Brain Male	brain
7	chr19:36674600-36687200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:36674600-36687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:36674600-36687400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:36674600-36687800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:36674600-36704600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:36674600-36704600	Weak transcription	HMEC	breast
13	chr19:36674600-36704600	Weak transcription	NH-A	brain
14	chr19:36674600-36704600	Weak transcription	NHEK	skin
15	chr19:36674600-36704800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:36674800-36694400	Weak transcription	Fetal Heart	heart
17	chr19:36682600-36687200	Weak transcription	Hela-S3	cervix
18	chr19:36682600-36705000	Weak transcription	Small Intestine	intestine
19	chr19:36682800-36687800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:36685200-36704800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:36685400-36687600	Weak transcription	Fetal Thymus	thymus
22	chr19:36685400-36704600	Weak transcription	HSMM	muscle
23	chr19:36685800-36687200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr19:36685800-36687600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:36685800-36687600	Weak transcription	Stomach Mucosa	stomach
26	chr19:36685800-36699400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:36685800-36704600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr19:36685800-36704800	Weak transcription	Colon Smooth Muscle	Colon
29	chr19:36686000-36687200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr19:36686000-36687200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:36686000-36687400	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:36686000-36687800	Weak transcription	Brain Substantia Nigra	brain
33	chr19:36686000-36687800	Weak transcription	HepG2	liver
34	chr19:36686000-36688000	Weak transcription	NHLF	lung
35	chr19:36686000-36688400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:36686000-36688600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:36686000-36688800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:36686000-36689800	Weak transcription	Primary T cells from cord blood	blood
39	chr19:36686000-36690400	Weak transcription	Fetal Intestine Small	intestine
40	chr19:36686000-36691600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:36686000-36692000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr19:36686000-36692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:36686000-36692000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:36686000-36692000	Weak transcription	Right Ventricle	heart
45	chr19:36686000-36692200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr19:36686000-36692600	Weak transcription	Esophagus	oesophagus
47	chr19:36686000-36692600	Weak transcription	Lung	lung
48	chr19:36686000-36692600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:36686000-36695800	Weak transcription	Ovary	ovary
50	chr19:36686000-36697000	Weak transcription	Aorta	Aorta

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