Variant report

Variant	rs8099869
Chromosome Location	chr19:44623376-44623377
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44617932..44619858-chr19:44621419..44624363,2	K562	blood:
2	chr19:44617932..44619818-chr19:44621419..44624956,3	K562	blood:

Variant related genes	Relation type
ENSG00000256294	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10406335	1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs10408901	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs10410306	0.82[CHB][hapmap]
rs10413195	0.91[CHB][hapmap];0.81[JPT][hapmap];0.95[ASN][1000 genomes]
rs10413511	0.89[ASN][1000 genomes]
rs10853771	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1236712	0.89[ASN][1000 genomes]
rs1236715	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1236716	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2061332	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2061333	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2168778	0.97[ASN][1000 genomes]
rs2284980	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs2284981	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2356750	0.97[ASN][1000 genomes]
rs3172	0.88[CEU][hapmap];0.82[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3200505	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3746319	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3746321	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4239529	0.83[CHB][hapmap]
rs4429390	0.83[CHB][hapmap]
rs4459653	0.83[CHB][hapmap]
rs4508518	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs4802204	0.82[AMR][1000 genomes]
rs4802206	0.82[CHB][hapmap]
rs4802207	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4802208	1.00[CEU][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803676	0.83[CHB][hapmap]
rs4803681	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56353321	0.81[AMR][1000 genomes]
rs62115524	0.81[AMR][1000 genomes]
rs62115526	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7251868	0.96[ASN][1000 genomes]
rs7253485	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7508149	0.87[CHB][hapmap]
rs7508762	0.97[ASN][1000 genomes]
rs8104573	0.83[CHB][hapmap]
rs8105860	0.82[CHB][hapmap]
rs8108021	0.89[CEU][hapmap]
rs9304638	1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[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
rs8099869	ZNF224	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44618200-44624400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44618200-44635000	Weak transcription	Stomach Mucosa	stomach
3	chr19:44618400-44629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44618600-44623400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:44618600-44623400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr19:44618600-44631400	Weak transcription	NHEK	skin
7	chr19:44618600-44635000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr19:44618800-44623400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:44618800-44623600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:44618800-44635000	Weak transcription	HMEC	breast
11	chr19:44619000-44623400	Weak transcription	Fetal Heart	heart
12	chr19:44619000-44633600	Weak transcription	HUVEC	blood vessel
13	chr19:44619600-44623800	Strong transcription	A549	lung
14	chr19:44619600-44624800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr19:44619600-44624800	Strong transcription	Brain Angular Gyrus	brain
16	chr19:44619600-44625600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr19:44619600-44625800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:44619600-44626000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr19:44619600-44626200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:44619600-44627200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr19:44619600-44629200	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr19:44619600-44630400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:44619600-44633200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr19:44619600-44637200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr19:44619600-44638600	ZNF genes & repeats	Liver	Liver
26	chr19:44619800-44623400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:44619800-44623400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr19:44619800-44624000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr19:44619800-44624200	Strong transcription	Fetal Lung	lung
30	chr19:44619800-44624200	Strong transcription	Fetal Stomach	stomach
31	chr19:44619800-44624400	Strong transcription	Gastric	stomach
32	chr19:44619800-44624400	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr19:44619800-44624400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr19:44619800-44624800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:44619800-44624800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr19:44619800-44624800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr19:44619800-44625000	Strong transcription	Brain Germinal Matrix	brain
38	chr19:44619800-44625200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:44619800-44625400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:44619800-44625400	Strong transcription	Thymus	Thymus
41	chr19:44619800-44625600	Strong transcription	Fetal Muscle Trunk	muscle
42	chr19:44619800-44625800	Strong transcription	Left Ventricle	heart
43	chr19:44619800-44625800	Strong transcription	Ovary	ovary
44	chr19:44619800-44626600	Strong transcription	Primary T cells from cord blood	blood
45	chr19:44619800-44627000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:44619800-44627600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:44619800-44629200	Strong transcription	Fetal Muscle Leg	muscle
48	chr19:44619800-44630600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr19:44619800-44635000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:44620000-44623400	Strong transcription	Adipose Nuclei	Adipose

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