Variant report

Variant	rs7250004
Chromosome Location	chr19:44602992-44602993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10406335	0.88[EUR][1000 genomes]
rs10410306	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10413195	0.87[EUR][1000 genomes]
rs10420143	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061332	0.93[ASN][1000 genomes]
rs2061333	0.93[ASN][1000 genomes]
rs2068061	0.85[EUR][1000 genomes]
rs2168778	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2284978	0.83[EUR][1000 genomes]
rs2284980	0.89[EUR][1000 genomes]
rs2356750	0.82[EUR][1000 genomes]
rs28446946	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28539456	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3172	0.97[ASN][1000 genomes]
rs3200505	0.93[ASN][1000 genomes]
rs3746319	0.93[ASN][1000 genomes]
rs3746321	0.93[ASN][1000 genomes]
rs4239529	0.84[EUR][1000 genomes]
rs4508518	0.96[ASN][1000 genomes]
rs4802204	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4802205	0.97[ASN][1000 genomes]
rs4802206	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802207	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4803676	0.85[EUR][1000 genomes]
rs4803678	0.84[EUR][1000 genomes]
rs4803679	0.84[EUR][1000 genomes]
rs4803680	0.84[EUR][1000 genomes]
rs4803681	0.97[ASN][1000 genomes]
rs55876899	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56353321	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62115524	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62115526	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6509141	0.83[EUR][1000 genomes]
rs7249827	0.84[EUR][1000 genomes]
rs7249834	0.84[EUR][1000 genomes]
rs7250005	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7250076	0.84[EUR][1000 genomes]
rs7250171	0.84[EUR][1000 genomes]
rs7251868	0.83[EUR][1000 genomes]
rs7508149	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7508762	0.87[EUR][1000 genomes]
rs8101657	0.84[EUR][1000 genomes]
rs8104573	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8105860	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8108021	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8108404	0.97[ASN][1000 genomes]
rs8113750	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9304638	0.88[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7250004	ZNF223	cis	Thyroid	GTEx
rs7250004	ZNF223	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44599600-44604400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:44599600-44604400	Weak transcription	Spleen	Spleen
3	chr19:44599600-44604800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr19:44599600-44608000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:44599600-44609000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:44599600-44610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr19:44599600-44611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:44599800-44604400	Weak transcription	Psoas Muscle	Psoas
9	chr19:44599800-44604600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr19:44599800-44604600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr19:44599800-44604600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:44599800-44604600	Weak transcription	HUVEC	blood vessel
13	chr19:44599800-44604600	Weak transcription	NH-A	brain
14	chr19:44599800-44604800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr19:44599800-44604800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr19:44599800-44605000	Weak transcription	Small Intestine	intestine
17	chr19:44599800-44605000	Weak transcription	K562	blood
18	chr19:44599800-44605200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:44599800-44606000	Weak transcription	Fetal Heart	heart
20	chr19:44599800-44609200	Weak transcription	NHEK	skin
21	chr19:44599800-44610400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr19:44600000-44603200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr19:44600000-44604000	Weak transcription	Thymus	Thymus
24	chr19:44600000-44605400	Weak transcription	NHLF	lung
25	chr19:44600000-44610400	Weak transcription	Stomach Mucosa	stomach
26	chr19:44600200-44604400	Weak transcription	Right Ventricle	heart
27	chr19:44600200-44605000	Weak transcription	Colonic Mucosa	Colon
28	chr19:44600200-44605000	Weak transcription	HepG2	liver
29	chr19:44600400-44605400	Weak transcription	Hela-S3	cervix
30	chr19:44600400-44608200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:44600400-44610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:44600400-44610600	Strong transcription	HSMM	muscle
33	chr19:44600400-44616200	ZNF genes & repeats	Liver	Liver
34	chr19:44600600-44605000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:44600600-44608600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:44600600-44608800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr19:44600800-44603000	Strong transcription	NHDF-Ad	bronchial
38	chr19:44600800-44603400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
39	chr19:44600800-44603600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:44600800-44603600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr19:44600800-44603600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:44600800-44603600	ZNF genes & repeats	A549	lung
43	chr19:44600800-44605800	Strong transcription	Fetal Lung	lung
44	chr19:44600800-44606200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr19:44600800-44607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:44600800-44607000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr19:44600800-44607400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr19:44600800-44607600	Strong transcription	Fetal Intestine Large	intestine
49	chr19:44600800-44608000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr19:44600800-44608400	Strong transcription	Primary B cells from peripheral blood	blood

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