Variant report

Variant	rs72620573
Chromosome Location	chr19:19905169-19905170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11085277	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12327770	0.97[ASN][1000 genomes]
rs16996320	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808983	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808992	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808993	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7260393	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72620574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72620575	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs737195	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv911312	chr19:19861682-19917662	Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv458375	chr19:19863014-19949209	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv578798	chr19:19863014-19949209	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv911313	chr19:19866371-19936078	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv911314	chr19:19866371-20021046	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv519535	chr19:19871250-20595412	Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS 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	56 gene(s)	inside rSNPs	diseases
8	nsv911315	chr19:19872093-20021046	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv911316	chr19:19890450-20021046	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv578799	chr19:19901136-19967970	ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs72620573	ZNF682	cis	Muscle Skeletal	GTEx
rs72620573	ZNF253	cis	Nerve Tibial	GTEx
rs72620573	ZNF506	cis	Heart Left Ventricle	GTEx

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19888400-19927800	Weak transcription	Psoas Muscle	Psoas
2	chr19:19888600-19906400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr19:19888600-19906800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:19888600-19909000	Weak transcription	K562	blood
5	chr19:19888600-19911000	Weak transcription	HUVEC	blood vessel
6	chr19:19888600-19931800	Weak transcription	Fetal Heart	heart
7	chr19:19895000-19931200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:19895400-19908200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:19895400-19914800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:19895400-19914800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:19895600-19907200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr19:19895600-19909000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:19895600-19909000	ZNF genes & repeats	Liver	Liver
14	chr19:19895600-19914800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr19:19895600-19915000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
16	chr19:19895800-19908200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr19:19895800-19914800	Strong transcription	Dnd41	blood
18	chr19:19896000-19909200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:19896600-19905400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr19:19896600-19905800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:19896800-19908000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:19897200-19905800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:19897200-19906600	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:19897200-19907200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:19897200-19908600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr19:19897200-19918600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:19897400-19907600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr19:19899600-19907000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr19:19900000-19915200	Weak transcription	HepG2	liver
30	chr19:19900800-19905800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:19900800-19908200	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr19:19901000-19909000	ZNF genes & repeats	GM12878-XiMat	blood
33	chr19:19902000-19905400	ZNF genes & repeats	NHDF-Ad	bronchial
34	chr19:19902000-19914400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:19902600-19905400	Weak transcription	Brain Anterior Caudate	brain
36	chr19:19902600-19922400	Weak transcription	Right Ventricle	heart
37	chr19:19902600-19931600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:19902800-19910200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:19903000-19905200	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:19903000-19905200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:19903000-19905400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:19903000-19908400	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
43	chr19:19903200-19905200	Weak transcription	Colonic Mucosa	Colon
44	chr19:19903200-19905400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:19903200-19905400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:19903200-19906600	Weak transcription	Fetal Brain Female	brain
47	chr19:19903200-19906600	Weak transcription	HSMMtube	muscle
48	chr19:19903200-19906800	Weak transcription	Aorta	Aorta
49	chr19:19903200-19906800	Weak transcription	Gastric	stomach
50	chr19:19903200-19906800	Weak transcription	Ovary	ovary

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