Variant report

Variant	rs7252213
Chromosome Location	chr19:44576863-44576864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44554677..44558669-chr19:44574332..44578828,6	MCF-7	breast:
2	chr19:44563861..44566757-chr19:44575129..44577196,2	MCF-7	breast:
3	chr19:44510545..44512229-chr19:44575902..44577637,2	MCF-7	breast:
4	chr19:44543112..44545295-chr19:44576568..44579333,2	K562	blood:

Variant related genes	Relation type
ENSG00000159882	Chromatin interaction
ENSG00000178386	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11083734	0.82[ASN][1000 genomes]
rs11083735	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11083736	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11083737	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11666432	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12610472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1474061	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1996409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2138823	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2138824	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176431	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35120085	0.81[ASN][1000 genomes]
rs382197	0.83[EUR][1000 genomes]
rs3826941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4239528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427608	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4299256	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4371266	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4375771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4444434	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs451388	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs454904	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4550576	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4555257	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580302	0.81[ASN][1000 genomes]
rs4803668	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803672	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4803674	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55798868	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56003307	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56230322	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56250154	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57895932	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62115491	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62119177	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6509135	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6509137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509139	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7251015	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7255192	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7257809	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8105003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8109313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8109615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9646633	0.99[EUR][1000 genomes];1.00[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
rs7252213	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs7252213	ZNF223	cis	Thyroid	GTEx
rs7252213	ZNF223	cis	lung	GTEx
rs7252213	ZNF223	cis	Nerve Tibial	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	chr19:44575400-44577000	Active TSS	Aorta	Aorta
3	chr19:44575400-44577000	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr19:44575400-44577000	Active TSS	Stomach Mucosa	stomach
5	chr19:44575400-44577200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:44575400-44577600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:44575600-44577000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr19:44575600-44577000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr19:44575600-44577000	Flanking Active TSS	Primary B cells from peripheral blood	blood
10	chr19:44575600-44577000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr19:44575600-44577000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:44575600-44577000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:44575600-44577000	Active TSS	Colonic Mucosa	Colon
14	chr19:44575600-44577000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:44575600-44577000	Active TSS	Fetal Stomach	stomach
16	chr19:44575600-44577000	Active TSS	Left Ventricle	heart
17	chr19:44575600-44577000	Active TSS	Rectal Smooth Muscle	rectum
18	chr19:44575600-44577000	Active TSS	Right Ventricle	heart
19	chr19:44575600-44577200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:44575600-44577200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:44575600-44577200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr19:44575600-44577200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:44575600-44577200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:44575600-44577400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr19:44575600-44577400	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr19:44575600-44577400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:44575600-44577400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr19:44575600-44577400	Active TSS	Right Atrium	heart
29	chr19:44575600-44577400	Active TSS	GM12878-XiMat	blood
30	chr19:44575600-44577400	Active TSS	HSMM	muscle
31	chr19:44575600-44577400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr19:44575600-44577600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr19:44575800-44577000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:44575800-44577000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr19:44575800-44577000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr19:44575800-44577000	Active TSS	Fetal Kidney	kidney
37	chr19:44575800-44577000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr19:44575800-44577000	Active TSS	Small Intestine	intestine
39	chr19:44575800-44577200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:44575800-44577200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr19:44575800-44577200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr19:44575800-44577200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:44575800-44577200	Active TSS	Fetal Intestine Large	intestine
44	chr19:44575800-44577400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:44575800-44577400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr19:44575800-44577400	Flanking Active TSS	Liver	Liver
47	chr19:44575800-44577400	Active TSS	Colon Smooth Muscle	Colon
48	chr19:44575800-44577400	Active TSS	Fetal Muscle Trunk	muscle
49	chr19:44575800-44577400	Flanking Active TSS	Fetal Thymus	thymus
50	chr19:44576000-44577000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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