Variant report

Variant	rs367499
Chromosome Location	chr19:44504981-44504982
allele	A/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	chr19:44504944-44504994	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44493777..44495330-chr19:44504111..44506690,2	K562	blood:

Variant related genes	Relation type
ZNF230	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10418363	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083732	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083733	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11881151	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12232810	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1996408	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2191566	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2270196	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2356549	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35292176	0.83[EUR][1000 genomes]
rs367209	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs369106	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs377503	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs384544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs390369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803667	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803669	0.84[ASN][1000 genomes]
rs55703004	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56101767	0.93[EUR][1000 genomes]
rs56171514	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56317065	0.82[ASN][1000 genomes]
rs59963278	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62115482	0.80[ASN][1000 genomes]
rs62119173	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62119176	0.87[ASN][1000 genomes]
rs6509133	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7245749	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7252394	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7253205	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7255145	0.91[ASN][1000 genomes]
rs7255315	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7256908	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7258517	0.92[ASN][1000 genomes]
rs73037629	0.80[ASN][1000 genomes]
rs8105571	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3390785	chr19:44503412-44505260	Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs367499	ZNF223	cis	Thyroid	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
3	chr19:44489600-44506200	Weak transcription	HepG2	liver
4	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
8	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
9	chr19:44499200-44506200	Weak transcription	NHLF	lung
10	chr19:44501000-44506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr19:44501000-44506200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:44501000-44506200	Weak transcription	Brain Anterior Caudate	brain
13	chr19:44501000-44506400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr19:44501000-44506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:44501200-44506000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:44501200-44506000	Weak transcription	Spleen	Spleen
17	chr19:44501200-44506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:44501200-44506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:44501200-44506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:44501200-44506200	Weak transcription	Brain Angular Gyrus	brain
21	chr19:44501200-44506200	Weak transcription	HUVEC	blood vessel
22	chr19:44501200-44506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:44501200-44506400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:44501200-44506400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:44501200-44506400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr19:44501400-44506200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr19:44501400-44506200	Weak transcription	Primary B cells from cord blood	blood
28	chr19:44501400-44506200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr19:44501400-44506200	Weak transcription	Fetal Kidney	kidney
30	chr19:44501400-44506200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr19:44501400-44506200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr19:44501600-44506000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:44501600-44506000	Weak transcription	Fetal Brain Male	brain
34	chr19:44501600-44506200	Weak transcription	Thymus	Thymus
35	chr19:44501600-44506200	Weak transcription	Osteobl	bone
36	chr19:44501600-44506400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:44501800-44506000	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:44501800-44506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr19:44501800-44506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:44501800-44506200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr19:44501800-44506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:44501800-44506200	Weak transcription	Fetal Lung	lung
43	chr19:44501800-44506200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr19:44501800-44506400	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr19:44501800-44506400	Weak transcription	Colonic Mucosa	Colon
46	chr19:44501800-44506400	Weak transcription	Placenta	Placenta
47	chr19:44502000-44505400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:44502000-44506000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:44502000-44506200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:44502000-44506200	Weak transcription	Brain Germinal Matrix	brain

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