Variant report

Variant	rs11666432
Chromosome Location	chr19:44576302-44576303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44554851..44557017-chr19:44574695..44576778,3	MCF-7	breast:
2	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:
3	chr19:44563861..44566757-chr19:44575129..44577196,2	MCF-7	breast:
4	chr19:44510545..44512229-chr19:44575902..44577637,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159882	Chromatin interaction
ENSG00000178386	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11083734	0.81[ASN][1000 genomes]
rs11083735	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083736	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11083737	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12610472	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1474061	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996409	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2138823	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2138824	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2176431	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35120085	0.81[ASN][1000 genomes]
rs382197	0.81[EUR][1000 genomes]
rs3826941	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4239528	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs427608	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4299256	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371266	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4375771	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4444434	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs451388	0.85[EUR][1000 genomes]
rs454904	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4550576	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4555257	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803668	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803672	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803674	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55798868	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56003307	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56230322	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56250154	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57895932	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62115491	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62119177	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509135	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6509137	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6509139	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7251015	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7252213	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7255192	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7257809	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8105003	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8109313	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8109615	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8110348	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9646633	0.96[EUR][1000 genomes];0.99[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11666432	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs11666432	ZNF223	cis	Nerve Tibial	GTEx
rs11666432	ZNF223	cis	Thyroid	GTEx
rs11666432	ZNF223	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44575200-44577200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:44575400-44576400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:44575400-44576400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:44575400-44576600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:44575400-44576600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:44575400-44576600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:44575400-44576600	Active TSS	Brain Hippocampus Middle	brain
8	chr19:44575400-44576600	Active TSS	Stomach Smooth Muscle	stomach
9	chr19:44575400-44576800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:44575400-44577000	Active TSS	Aorta	Aorta
11	chr19:44575400-44577000	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr19:44575400-44577000	Active TSS	Stomach Mucosa	stomach
13	chr19:44575400-44577200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:44575400-44577600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr19:44575600-44576400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr19:44575600-44576600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr19:44575600-44576800	Active TSS	Brain Anterior Caudate	brain
18	chr19:44575600-44576800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr19:44575600-44576800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:44575600-44576800	Active TSS	Fetal Brain Male	brain
21	chr19:44575600-44576800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr19:44575600-44576800	Active TSS	Hela-S3	cervix
23	chr19:44575600-44577000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr19:44575600-44577000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:44575600-44577000	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr19:44575600-44577000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr19:44575600-44577000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:44575600-44577000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:44575600-44577000	Active TSS	Colonic Mucosa	Colon
30	chr19:44575600-44577000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr19:44575600-44577000	Active TSS	Fetal Stomach	stomach
32	chr19:44575600-44577000	Active TSS	Left Ventricle	heart
33	chr19:44575600-44577000	Active TSS	Rectal Smooth Muscle	rectum
34	chr19:44575600-44577000	Active TSS	Right Ventricle	heart
35	chr19:44575600-44577200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:44575600-44577200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr19:44575600-44577200	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr19:44575600-44577200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr19:44575600-44577200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:44575600-44577400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr19:44575600-44577400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr19:44575600-44577400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:44575600-44577400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr19:44575600-44577400	Active TSS	Right Atrium	heart
45	chr19:44575600-44577400	Active TSS	GM12878-XiMat	blood
46	chr19:44575600-44577400	Active TSS	HSMM	muscle
47	chr19:44575600-44577400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:44575600-44577600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr19:44575800-44576400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:44575800-44576600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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