Variant report

Variant	rs8113249
Chromosome Location	chr19:44591360-44591361
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	chr19:44590880-44594869	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
RN7SL53P	TF binding region
RNU6-902P	TF binding region
ENSG00000267680	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4429390	0.92[EUR][1000 genomes]
rs4459653	0.91[EUR][1000 genomes]
rs56353321	0.81[EUR][1000 genomes]
rs62115524	0.81[EUR][1000 genomes]
rs8113487	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8113249	ZNF223	cis	Thyroid	GTEx

Chromatin state (count:118 , 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	chr19:44580600-44591400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:44580600-44592400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:44580600-44592600	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr19:44580800-44593200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr19:44581000-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr19:44581000-44591400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr19:44581000-44591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:44581200-44591400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr19:44581200-44591600	Strong transcription	Dnd41	blood
13	chr19:44581200-44592400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr19:44581200-44593000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:44581800-44592000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:44581800-44592800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:44582000-44591400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:44582000-44592600	Strong transcription	Fetal Stomach	stomach
19	chr19:44582200-44592800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr19:44582800-44591400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:44583000-44591600	Strong transcription	Primary T cells from cord blood	blood
22	chr19:44583200-44593000	Strong transcription	Fetal Brain Female	brain
23	chr19:44583400-44591800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr19:44583600-44593200	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr19:44583800-44591600	Strong transcription	Stomach Smooth Muscle	stomach
26	chr19:44584000-44591400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:44584000-44592800	ZNF genes & repeats	Liver	Liver
28	chr19:44584000-44593400	Strong transcription	Adipose Nuclei	Adipose
29	chr19:44584200-44591400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:44584200-44591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:44584200-44591400	Strong transcription	Brain Germinal Matrix	brain
32	chr19:44584200-44591400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr19:44584200-44591400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr19:44584200-44591800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:44584200-44592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:44584200-44592800	Strong transcription	Left Ventricle	heart
37	chr19:44584200-44593400	Strong transcription	Fetal Lung	lung
38	chr19:44584200-44593400	Strong transcription	Ovary	ovary
39	chr19:44584800-44591400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:44584800-44591400	Strong transcription	Brain Cingulate Gyrus	brain
41	chr19:44584800-44591400	Strong transcription	Brain Hippocampus Middle	brain
42	chr19:44584800-44591400	Strong transcription	Thymus	Thymus
43	chr19:44584800-44591800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:44584800-44592800	Strong transcription	Fetal Muscle Leg	muscle
45	chr19:44585000-44591400	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:44585600-44591600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:44585800-44591400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr19:44586400-44591400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr19:44586800-44598000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:44587000-44597800	Weak transcription	HUVEC	blood vessel

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