Variant report

Variant	rs8113487
Chromosome Location	chr19:44591554-44591555
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	chr19:44590880-44594869	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44590412..44592752-chr19:44596978..44598505,2	K562	blood:
2	chr19:44589107..44593140-chr19:44596665..44599244,3	MCF-7	breast:

Variant related genes	Relation type
RNU6-902P	TF binding region
RN7SL53P	TF binding region
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2068061	0.91[EUR][1000 genomes]
rs2284978	0.88[EUR][1000 genomes]
rs4239529	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4803676	0.91[EUR][1000 genomes]
rs4803677	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803678	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803679	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4803680	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6509141	0.88[EUR][1000 genomes]
rs7249827	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7249834	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7250076	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7250171	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8101657	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8113249	0.86[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8113487	ZNF223	cis	Thyroid	GTEx
rs8113487	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs8113487	ZNF223	cis	lung	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44577000-44598000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:44577200-44598000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:44577600-44597800	Weak transcription	HMEC	breast
4	chr19:44580600-44592400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:44580600-44592600	Strong transcription	Duodenum Smooth Muscle	Duodenum
6	chr19:44580800-44593200	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:44581000-44591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:44581200-44591600	Strong transcription	Dnd41	blood
9	chr19:44581200-44592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr19:44581200-44593000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:44581800-44592000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:44581800-44592800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:44582000-44592600	Strong transcription	Fetal Stomach	stomach
14	chr19:44582200-44592800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:44583000-44591600	Strong transcription	Primary T cells from cord blood	blood
16	chr19:44583200-44593000	Strong transcription	Fetal Brain Female	brain
17	chr19:44583400-44591800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr19:44583600-44593200	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:44583800-44591600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr19:44584000-44592800	ZNF genes & repeats	Liver	Liver
21	chr19:44584000-44593400	Strong transcription	Adipose Nuclei	Adipose
22	chr19:44584200-44591800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:44584200-44592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:44584200-44592800	Strong transcription	Left Ventricle	heart
25	chr19:44584200-44593400	Strong transcription	Fetal Lung	lung
26	chr19:44584200-44593400	Strong transcription	Ovary	ovary
27	chr19:44584800-44591800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:44584800-44592800	Strong transcription	Fetal Muscle Leg	muscle
29	chr19:44585600-44591600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr19:44586800-44598000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:44587000-44597800	Weak transcription	HUVEC	blood vessel
32	chr19:44587000-44598000	Weak transcription	Fetal Thymus	thymus
33	chr19:44587200-44597800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:44588400-44593400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr19:44588400-44597600	Weak transcription	HepG2	liver
36	chr19:44588600-44597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr19:44588600-44597800	Weak transcription	GM12878-XiMat	blood
38	chr19:44588800-44592000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr19:44589000-44591600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr19:44589200-44598000	Weak transcription	Colonic Mucosa	Colon
41	chr19:44589400-44591800	Weak transcription	Fetal Intestine Small	intestine
42	chr19:44589400-44598000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:44589400-44598200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr19:44589600-44591600	Strong transcription	Primary B cells from cord blood	blood
45	chr19:44589600-44598000	Weak transcription	Right Ventricle	heart
46	chr19:44590000-44591800	Strong transcription	NHDF-Ad	bronchial
47	chr19:44590000-44598200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:44590200-44597800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:44590200-44598200	Weak transcription	Esophagus	oesophagus
50	chr19:44590400-44598000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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