Variant report

Variant	rs4444434
Chromosome Location	chr19:44567510-44567511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44555194..44558288-chr19:44566078..44569584,3	MCF-7	breast:
2	chr19:44562856..44565736-chr19:44566187..44569653,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF284-2	chr19:44567346-44568181	expRegAs_chr19_6276_+

Variant related genes	Relation type
ENSG00000178386	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs11083734	0.83[ASN][1000 genomes]
rs11083735	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11083736	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11083737	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666432	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12610472	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474061	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1996409	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2138823	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2138824	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2176431	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35120085	0.83[ASN][1000 genomes]
rs382197	0.86[EUR][1000 genomes]
rs3826941	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239528	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427608	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4299256	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371266	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4375771	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451388	0.90[EUR][1000 genomes]
rs454904	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4550576	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4555257	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4580302	0.82[ASN][1000 genomes]
rs4803668	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803672	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803674	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55798868	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56003307	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56230322	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56250154	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57895932	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62115491	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62119177	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6509135	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509139	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7251015	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7252213	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7255192	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257809	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105003	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8109313	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109615	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8110348	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646633	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4444434	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs4444434	ZNF223	cis	Thyroid	GTEx
rs4444434	ZNF223	cis	lung	GTEx
rs4444434	ZNF223	cis	Nerve Tibial	GTEx
rs4444434	ZNF223	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44557000-44567600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:44557000-44568800	Weak transcription	HMEC	breast
3	chr19:44557000-44570200	Weak transcription	HUVEC	blood vessel
4	chr19:44557000-44570200	Weak transcription	NHDF-Ad	bronchial
5	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:44557400-44570000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr19:44557400-44570200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr19:44558200-44571800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
11	chr19:44558800-44567800	Strong transcription	Stomach Smooth Muscle	stomach
12	chr19:44558800-44572800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr19:44559200-44569000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:44559200-44569000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr19:44559200-44569400	Strong transcription	Fetal Stomach	stomach
16	chr19:44559400-44569400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:44559400-44570000	Weak transcription	Stomach Mucosa	stomach
18	chr19:44559800-44568600	Strong transcription	HSMMtube	muscle
19	chr19:44560000-44568800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:44560800-44569400	Strong transcription	Fetal Intestine Large	intestine
21	chr19:44560800-44570000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:44561000-44568800	Strong transcription	Fetal Brain Female	brain
23	chr19:44561000-44569200	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:44561200-44569600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:44561400-44568400	Strong transcription	Brain Angular Gyrus	brain
26	chr19:44561400-44568800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr19:44561400-44569000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:44561400-44570000	Strong transcription	Brain Hippocampus Middle	brain
29	chr19:44561600-44568800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:44561600-44569000	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr19:44561600-44569600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:44561800-44567800	Strong transcription	Dnd41	blood
33	chr19:44561800-44568400	Strong transcription	Brain Substantia Nigra	brain
34	chr19:44561800-44568800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr19:44561800-44568800	Strong transcription	Brain Anterior Caudate	brain
36	chr19:44561800-44569200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:44561800-44569200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr19:44561800-44569200	Strong transcription	Brain Cingulate Gyrus	brain
39	chr19:44561800-44569200	Strong transcription	Placenta	Placenta
40	chr19:44561800-44569600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr19:44561800-44569600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:44561800-44569600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:44561800-44569600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:44561800-44570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:44561800-44570400	Strong transcription	Right Ventricle	heart
46	chr19:44561800-44572000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:44561800-44572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr19:44562000-44568200	Strong transcription	Primary T cells from cord blood	blood
49	chr19:44562000-44569800	Strong transcription	Brain Germinal Matrix	brain
50	chr19:44562200-44568200	Strong transcription	Rectal Mucosa Donor 31	rectum

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