Variant report

Variant	rs62115526
Chromosome Location	chr19:44604914-44604915
allele	C/T
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	chr19:44604885-44605016	Gliobla	brain:	n/a	n/a
2	POLR2A	chr19:44604906-44605094	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44603386..44606385-chr19:44614662..44617472,2	K562	blood:
2	chr19:44604377..44606312-chr19:44609455..44611888,2	K562	blood:

Variant related genes	Relation type
ZNF224	TF binding region
ENSG00000267163	TF binding region
ENSG00000267680	Chromatin interaction
ENSG00000186019	Chromatin interaction
ENSG00000256294	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10410306	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10420143	1.00[ASN][1000 genomes]
rs10853771	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1236715	0.81[AMR][1000 genomes]
rs2061332	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2061333	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284981	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28446946	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28539456	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3172	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3200505	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3746319	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3746321	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4429390	0.87[EUR][1000 genomes]
rs4459653	0.87[EUR][1000 genomes]
rs4508518	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802204	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802205	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4802206	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4802207	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803681	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55876899	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56353321	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62115524	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7250004	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7250005	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7508149	0.96[ASN][1000 genomes]
rs8099869	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8104573	0.99[ASN][1000 genomes]
rs8105860	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs8108021	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8108404	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8113750	0.98[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	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
2	nsv978828	chr19:44604903-44606655	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62115526	ZNF224	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44599600-44608000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:44599600-44609000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:44599600-44610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:44599600-44611000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:44599800-44605000	Weak transcription	Small Intestine	intestine
6	chr19:44599800-44605000	Weak transcription	K562	blood
7	chr19:44599800-44605200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:44599800-44606000	Weak transcription	Fetal Heart	heart
9	chr19:44599800-44609200	Weak transcription	NHEK	skin
10	chr19:44599800-44610400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr19:44600000-44605400	Weak transcription	NHLF	lung
12	chr19:44600000-44610400	Weak transcription	Stomach Mucosa	stomach
13	chr19:44600200-44605000	Weak transcription	Colonic Mucosa	Colon
14	chr19:44600200-44605000	Weak transcription	HepG2	liver
15	chr19:44600400-44605400	Weak transcription	Hela-S3	cervix
16	chr19:44600400-44608200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:44600400-44610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:44600400-44610600	Strong transcription	HSMM	muscle
19	chr19:44600400-44616200	ZNF genes & repeats	Liver	Liver
20	chr19:44600600-44605000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:44600600-44608600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:44600600-44608800	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:44600800-44605800	Strong transcription	Fetal Lung	lung
24	chr19:44600800-44606200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr19:44600800-44607000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr19:44600800-44607000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr19:44600800-44607400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:44600800-44607600	Strong transcription	Fetal Intestine Large	intestine
29	chr19:44600800-44608000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:44600800-44608400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr19:44600800-44608600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr19:44600800-44609000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:44600800-44609000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:44600800-44609200	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:44600800-44610400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:44600800-44610400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:44600800-44610600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:44600800-44610600	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr19:44600800-44612800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:44600800-44614000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:44600800-44614600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:44601000-44605200	Strong transcription	Ovary	ovary
43	chr19:44601000-44605800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr19:44601000-44606000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:44601000-44606000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr19:44601000-44606600	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr19:44601000-44608200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr19:44601000-44608200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:44601000-44608400	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:44601000-44609000	Strong transcription	Left Ventricle	heart

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