Variant report

Variant	rs4299256
Chromosome Location	chr19:44572048-44572049
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:44570647-44572566	K562	blood:	n/a	n/a

Variant related genes	Relation type
ZNF284	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11083734	0.82[ASN][1000 genomes]
rs11083735	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083736	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083737	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11666432	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12610472	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1474061	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996409	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2138823	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2138824	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176431	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35120085	0.81[ASN][1000 genomes]
rs382197	0.86[EUR][1000 genomes]
rs3826941	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4239528	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427608	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4371266	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375771	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4444434	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451388	0.90[EUR][1000 genomes]
rs454904	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4550576	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4555257	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580302	0.81[ASN][1000 genomes]
rs4803668	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803672	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803674	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55798868	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56003307	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56230322	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56250154	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57895932	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115491	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62119177	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509135	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509137	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509139	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7251015	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7252213	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255192	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7257809	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8105003	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109313	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109615	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110348	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9646633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833840	chr19:44520620-44715760	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4299256	ZNF223	cis	lung	GTEx
rs4299256	ZNF223	cis	Adipose Subcutaneous	GTEx
rs4299256	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs4299256	ZNF223	cis	Thyroid	GTEx
rs4299256	ZNF223	cis	Nerve Tibial	GTEx

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
4	chr19:44558800-44572800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:44561800-44572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:44563600-44572200	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr19:44565600-44572200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr19:44565600-44572200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
9	chr19:44566600-44572200	ZNF genes & repeats	Colon Smooth Muscle	Colon
10	chr19:44566800-44572200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr19:44567400-44573000	ZNF genes & repeats	Fetal Lung	lung
12	chr19:44567800-44572600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
13	chr19:44568000-44575400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:44568800-44572200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr19:44568800-44572200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:44568800-44572600	ZNF genes & repeats	Ovary	ovary
17	chr19:44568800-44573000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:44568800-44574000	ZNF genes & repeats	Fetal Brain Female	brain
19	chr19:44569000-44572200	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr19:44569000-44572200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
21	chr19:44569000-44572600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:44569000-44572600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr19:44569000-44572600	ZNF genes & repeats	Psoas Muscle	Psoas
24	chr19:44569000-44573200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:44569400-44574000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:44569800-44572200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:44569800-44572200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:44569800-44573000	ZNF genes & repeats	Brain Germinal Matrix	brain
29	chr19:44570000-44572200	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr19:44570000-44572200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
31	chr19:44570000-44572400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:44570000-44573200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:44570600-44575400	Weak transcription	HepG2	liver
34	chr19:44571200-44572200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:44571200-44572600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:44571200-44572800	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr19:44571200-44575600	Weak transcription	Right Ventricle	heart
38	chr19:44571200-44575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:44571400-44572600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr19:44571400-44572600	Strong transcription	Brain Angular Gyrus	brain
41	chr19:44571400-44575000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:44571400-44575400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr19:44571400-44575400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:44571400-44575600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:44571400-44575600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr19:44571400-44575600	Weak transcription	Fetal Thymus	thymus
47	chr19:44571600-44572600	Weak transcription	Dnd41	blood
48	chr19:44571600-44573200	ZNF genes & repeats	Fetal Stomach	stomach
49	chr19:44571600-44575400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:44571800-44572200	Strong transcription	Brain Hippocampus Middle	brain

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