Variant report

Variant	rs548656
Chromosome Location	chr19:37874688-37874689
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs185368	0.81[EUR][1000 genomes]
rs256733	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv2757695	chr19:37794850-38051606	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv2758759	chr19:37794850-38051606	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057688	chr19:37828019-37988253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1058788	chr19:37857748-37899157	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv579464	chr19:37858660-37881556	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats 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	6 gene(s)	inside rSNPs	diseases
7	nsv579465	chr19:37868552-37917692	ZNF genes & repeats Strong transcription Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs548656	AC012309.5	cis	Heart Left Ventricle	GTEx
rs548656	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs548656	AC012309.5	cis	Artery Tibial	GTEx
rs548656	AC012309.5	cis	Esophagus Muscularis	GTEx
rs548656	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37864000-37882000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr19:37864000-37882000	ZNF genes & repeats	Liver	Liver
3	chr19:37864400-37880600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:37864400-37880800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:37864600-37880600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
6	chr19:37864600-37890600	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:37865000-37875400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:37865000-37880600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr19:37865400-37880600	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr19:37865800-37875800	Strong transcription	Fetal Muscle Trunk	muscle
11	chr19:37867000-37878600	Weak transcription	Hela-S3	cervix
12	chr19:37868000-37880400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
13	chr19:37868000-37880800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:37868000-37881000	ZNF genes & repeats	A549	lung
15	chr19:37868000-37882000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:37868000-37882200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:37868000-37886600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:37868200-37875200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr19:37868200-37875200	Strong transcription	Brain Germinal Matrix	brain
20	chr19:37868200-37881000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
21	chr19:37868200-37881600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr19:37868200-37882000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr19:37868400-37880000	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr19:37869400-37876000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:37869400-37881600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr19:37869600-37877000	Strong transcription	Placenta	Placenta
27	chr19:37869600-37880800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr19:37869800-37881600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr19:37870000-37875600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:37870000-37880600	ZNF genes & repeats	Ovary	ovary
31	chr19:37870000-37881600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr19:37870000-37881800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:37870000-37882200	ZNF genes & repeats	Colon Smooth Muscle	Colon
34	chr19:37870600-37875200	Strong transcription	Right Ventricle	heart
35	chr19:37870600-37875200	Strong transcription	Osteobl	bone
36	chr19:37870600-37877200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:37870600-37877400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:37870800-37875400	ZNF genes & repeats	Fetal Intestine Large	intestine
39	chr19:37871000-37875600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:37871000-37880600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
41	chr19:37871000-37881600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
42	chr19:37871200-37882800	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr19:37871400-37875000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:37871400-37875200	Strong transcription	Dnd41	blood
45	chr19:37871400-37875200	Weak transcription	NHEK	skin
46	chr19:37871400-37875800	Strong transcription	HSMM	muscle
47	chr19:37871600-37875000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:37871800-37874800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:37871800-37875400	Weak transcription	NH-A	brain
50	chr19:37872000-37875000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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