Variant report

Variant	rs56208574
Chromosome Location	chr19:37498745-37498746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr19:37498501-37498841	K562	blood:	n/a	chr19:37498664-37498677
2	POLR2A	chr19:37498438-37498837	HL-60	blood:	n/a	n/a
3	NRF1	chr19:37498626-37498770	K562	blood:	n/a	chr19:37498700-37498711
4	ELF1	chr19:37498517-37498865	K562	blood:	n/a	chr19:37498664-37498677

Variant related genes	Relation type
ZNF420	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10403679	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10420554	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10424584	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10426135	0.82[ASN][1000 genomes]
rs1047333	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11084871	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11667146	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11670216	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11673192	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11673344	0.83[EUR][1000 genomes]
rs12151313	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1234251	0.84[EUR][1000 genomes]
rs13345491	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1423047	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1610560	0.89[ASN][1000 genomes]
rs1644638	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1644640	0.86[EUR][1000 genomes]
rs1644641	0.82[EUR][1000 genomes]
rs1644642	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1644643	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1644645	0.87[EUR][1000 genomes]
rs1667331	0.84[EUR][1000 genomes]
rs1667340	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1667343	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971873	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16971886	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1879497	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1962889	0.83[EUR][1000 genomes]
rs2011475	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2547055	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2562587	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745768	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3745770	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs45626541	0.84[EUR][1000 genomes]
rs472226	0.87[EUR][1000 genomes]
rs474017	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs475026	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs496872	0.83[EUR][1000 genomes]
rs513406	0.82[EUR][1000 genomes]
rs519551	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs524802	0.84[EUR][1000 genomes]
rs528504	0.85[EUR][1000 genomes]
rs529468	0.84[EUR][1000 genomes]
rs547483	0.85[EUR][1000 genomes]
rs550017	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55792845	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921822	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56330606	0.85[EUR][1000 genomes]
rs565721	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs567796	0.82[EUR][1000 genomes]
rs569371	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs703530	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703535	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs703537	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7247589	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7252230	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7254616	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7256001	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7256213	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7256746	0.83[EUR][1000 genomes]
rs7256876	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7257126	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7259513	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7260386	0.85[EUR][1000 genomes]
rs734381	0.85[EUR][1000 genomes]
rs73622783	0.82[EUR][1000 genomes]
rs8104919	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8106386	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8107192	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8108727	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110696	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826294	0.81[EUR][1000 genomes]
rs826296	0.83[EUR][1000 genomes]
rs826303	0.85[EUR][1000 genomes]
rs826304	0.85[EUR][1000 genomes]
rs826307	0.85[EUR][1000 genomes]
rs826314	0.86[EUR][1000 genomes]
rs826322	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826323	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9676450	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	esv3507199	chr19:37284708-37805639	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3507200	chr19:37284708-37805639	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3497360	chr19:37290273-37745365	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	esv3497361	chr19:37290273-37745365	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv458568	chr19:37325826-37747108	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv579461	chr19:37325826-37747108	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv833818	chr19:37427808-37602800	Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv911652	chr19:37437106-37774299	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv911653	chr19:37482151-37556673	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv961214	chr19:37494699-37506227	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs56208574	AC012309.5	cis	Artery Tibial	GTEx
rs56208574	ZNF585B	cis	Artery Tibial	GTEx
rs56208574	AC012309.5	cis	Esophagus Muscularis	GTEx
rs56208574	AC012309.5	cis	Thyroid	GTEx
rs56208574	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs56208574	AC012309.5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37498000-37508400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:37498200-37499000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37498200-37499000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:37498200-37499000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:37498200-37499000	Active TSS	Brain Substantia Nigra	brain
6	chr19:37498200-37499000	Active TSS	Colon Smooth Muscle	Colon
7	chr19:37498200-37499000	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr19:37498200-37499000	Flanking Active TSS	Placenta	Placenta
9	chr19:37498200-37499000	Active TSS	K562	blood
10	chr19:37498200-37499200	Active TSS	Primary hematopoietic stem cells	blood
11	chr19:37498200-37499200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:37498200-37499200	Active TSS	Fetal Lung	lung
13	chr19:37498200-37499200	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr19:37498200-37499200	Active TSS	Rectal Smooth Muscle	rectum
15	chr19:37498200-37499400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:37498200-37499400	Active TSS	Brain Angular Gyrus	brain
17	chr19:37498200-37499400	Active TSS	Brain Anterior Caudate	brain
18	chr19:37498200-37499400	Active TSS	Brain Hippocampus Middle	brain
19	chr19:37498200-37499400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:37498200-37499400	Active TSS	Fetal Kidney	kidney
21	chr19:37498200-37499400	Active TSS	Right Atrium	heart
22	chr19:37498200-37499400	ZNF genes & repeats	A549	lung
23	chr19:37498200-37499400	Active TSS	NHDF-Ad	bronchial
24	chr19:37498200-37499600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr19:37498200-37499600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:37498200-37499800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr19:37498200-37500000	ZNF genes & repeats	Liver	Liver
28	chr19:37498200-37500000	Active TSS	Stomach Smooth Muscle	stomach
29	chr19:37498200-37501000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
30	chr19:37498200-37502800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr19:37498200-37506800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
32	chr19:37498200-37507800	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr19:37498200-37508000	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr19:37498400-37498800	Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr19:37498400-37498800	Active TSS	NHLF	lung
36	chr19:37498400-37499000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
37	chr19:37498400-37499000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr19:37498400-37499000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:37498400-37499000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr19:37498400-37499000	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr19:37498400-37499000	Active TSS	Placenta Amnion	Placenta Amnion
42	chr19:37498400-37499000	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr19:37498400-37499000	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr19:37498400-37499000	ZNF genes & repeats	Thymus	Thymus
45	chr19:37498400-37499000	ZNF genes & repeats	HMEC	breast
46	chr19:37498400-37499000	Active TSS	Osteobl	bone
47	chr19:37498400-37499200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr19:37498400-37499200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr19:37498400-37499200	Active TSS	Brain Cingulate Gyrus	brain
50	chr19:37498400-37499200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland

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