Variant report

Variant	rs4375771
Chromosome Location	chr19:44570551-44570552
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	chr19:44568849..44570998-chr19:44573631..44576301,2	K562	blood:

Variant related genes	Relation type
ENSG00000186026	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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11083736	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11083737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666432	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12610472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2138823	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2138824	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2176431	0.86[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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4239528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427608	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4299256	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371266	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4444434	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451388	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs454904	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4550576	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4555257	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4580302	0.82[ASN][1000 genomes]
rs4803668	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4803672	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4803674	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55798868	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56003307	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56230322	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56250154	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62119177	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6509135	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6509137	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]
rs6509139	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7251015	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7252213	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]
rs7255192	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7257809	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8109313	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109615	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8110348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646633	0.89[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
rs4375771	ZNF223	cis	Adipose Subcutaneous	GTEx
rs4375771	ZNF223	cis	Nerve Tibial	GTEx
rs4375771	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs4375771	ZNF223	cis	lung	GTEx
rs4375771	ZNF223	cis	Thyroid	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44557000-44575600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:44558200-44571800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:44558200-44573200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:44558200-44575600	ZNF genes & repeats	Liver	Liver
5	chr19:44558800-44572800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr19:44561800-44572000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:44561800-44572600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:44562600-44570800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr19:44563600-44572200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr19:44565600-44572200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
11	chr19:44565600-44572200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:44566600-44572200	ZNF genes & repeats	Colon Smooth Muscle	Colon
13	chr19:44566800-44572000	ZNF genes & repeats	Colonic Mucosa	Colon
14	chr19:44566800-44572000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr19:44566800-44572200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
16	chr19:44567200-44571800	ZNF genes & repeats	Aorta	Aorta
17	chr19:44567200-44572000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:44567400-44571000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
19	chr19:44567400-44571400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:44567400-44573000	ZNF genes & repeats	Fetal Lung	lung
21	chr19:44567600-44571400	ZNF genes & repeats	Small Intestine	intestine
22	chr19:44567800-44572600	ZNF genes & repeats	Stomach Smooth Muscle	stomach
23	chr19:44568000-44575400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:44568200-44571800	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr19:44568200-44571800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:44568800-44571200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr19:44568800-44571400	ZNF genes & repeats	Spleen	Spleen
28	chr19:44568800-44571800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
29	chr19:44568800-44572000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr19:44568800-44572000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr19:44568800-44572000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:44568800-44572200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr19:44568800-44572200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:44568800-44572600	ZNF genes & repeats	Ovary	ovary
35	chr19:44568800-44573000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr19:44568800-44574000	ZNF genes & repeats	Fetal Brain Female	brain
37	chr19:44569000-44571800	ZNF genes & repeats	Pancreas	Pancrea
38	chr19:44569000-44572000	ZNF genes & repeats	HSMMtube	muscle
39	chr19:44569000-44572000	ZNF genes & repeats	Osteobl	bone
40	chr19:44569000-44572200	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr19:44569000-44572200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr19:44569000-44572600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:44569000-44572600	ZNF genes & repeats	Fetal Muscle Leg	muscle
44	chr19:44569000-44572600	ZNF genes & repeats	Psoas Muscle	Psoas
45	chr19:44569000-44573200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:44569200-44571200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr19:44569200-44571400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:44569200-44571600	ZNF genes & repeats	Dnd41	blood
49	chr19:44569200-44571800	ZNF genes & repeats	Placenta	Placenta
50	chr19:44569400-44570600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood

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