Variant report

Variant	rs59963278
Chromosome Location	chr19:44502730-44502731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr19:44502667-44502922	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44501460..44503364-chr19:44505726..44508056,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF45-2	chr19:44501048-44503384	ENSG00000266921.1
2	lnc-ZNF45-2	chr19:44502551-44503384	NONHSAT066650
3	lnc-ZNF45-2	chr19:44502675-44503384	ENSG00000266921.1

No data

Variant related genes	Relation type
ZNF230	TF binding region
ENSG00000159882	Chromatin interaction
ENSG00000266921	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10418363	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11083732	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11083733	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11881151	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12232810	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1996408	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2191566	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2270196	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2356549	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35292176	0.87[EUR][1000 genomes]
rs367209	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs367499	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs369106	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs377503	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs384544	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs390369	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803667	0.88[ASN][1000 genomes]
rs55703004	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56101767	0.97[EUR][1000 genomes]
rs56171514	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62119173	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62119176	0.82[ASN][1000 genomes]
rs6509133	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7245749	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7252394	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253205	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7255145	0.86[ASN][1000 genomes]
rs7255315	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7256908	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7258517	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8105571	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59963278	ZNF223	cis	Thyroid	GTEx

Chromatin state (count:88 , 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	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
6	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr19:44496600-44503200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
12	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
13	chr19:44499200-44506200	Weak transcription	NHLF	lung
14	chr19:44501000-44506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:44501000-44506200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr19:44501000-44506200	Weak transcription	Brain Anterior Caudate	brain
17	chr19:44501000-44506400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:44501000-44506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:44501200-44506000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:44501200-44506000	Weak transcription	Spleen	Spleen
21	chr19:44501200-44506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:44501200-44506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:44501200-44506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:44501200-44506200	Weak transcription	Brain Angular Gyrus	brain
25	chr19:44501200-44506200	Weak transcription	HUVEC	blood vessel
26	chr19:44501200-44506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:44501200-44506400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr19:44501200-44506400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:44501200-44506400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:44501400-44503200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:44501400-44506200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:44501400-44506200	Weak transcription	Primary B cells from cord blood	blood
33	chr19:44501400-44506200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:44501400-44506200	Weak transcription	Fetal Kidney	kidney
35	chr19:44501400-44506200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr19:44501400-44506200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr19:44501600-44506000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:44501600-44506000	Weak transcription	Fetal Brain Male	brain
39	chr19:44501600-44506200	Weak transcription	Thymus	Thymus
40	chr19:44501600-44506200	Weak transcription	Osteobl	bone
41	chr19:44501600-44506400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:44501800-44502800	ZNF genes & repeats	Fetal Stomach	stomach
43	chr19:44501800-44503800	Weak transcription	GM12878-XiMat	blood
44	chr19:44501800-44506000	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:44501800-44506200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr19:44501800-44506200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:44501800-44506200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr19:44501800-44506200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr19:44501800-44506200	Weak transcription	Fetal Lung	lung
50	chr19:44501800-44506200	Weak transcription	Stomach Smooth Muscle	stomach

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