Variant report

Variant	rs56161518
Chromosome Location	chr19:37469457-37469458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10403679	0.83[EUR][1000 genomes]
rs10420554	0.83[EUR][1000 genomes]
rs10424584	0.83[EUR][1000 genomes]
rs11540540	0.89[ASN][1000 genomes]
rs11670374	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11671112	0.89[ASN][1000 genomes]
rs13345491	0.83[EUR][1000 genomes]
rs1533736	0.89[ASN][1000 genomes]
rs1667340	0.82[EUR][1000 genomes]
rs1667343	0.83[EUR][1000 genomes]
rs16971873	0.84[EUR][1000 genomes]
rs16971886	0.83[EUR][1000 genomes]
rs17707446	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3745768	0.83[EUR][1000 genomes]
rs3745770	0.83[EUR][1000 genomes]
rs55700472	0.87[ASN][1000 genomes]
rs55856280	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56080874	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56210764	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56248021	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343212	0.89[ASN][1000 genomes]
rs7248693	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7256001	0.82[EUR][1000 genomes]
rs7257126	0.82[EUR][1000 genomes]
rs7257135	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73039116	0.89[ASN][1000 genomes]
rs73039188	0.89[ASN][1000 genomes]
rs9676450	0.83[EUR][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	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv523848	chr19:37357289-37487632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	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
15	nsv579463	chr19:37437106-37488055	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
16	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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs56161518	AC012309.5	cis	Thyroid	GTEx
rs56161518	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs56161518	AC012309.5	cis	Artery Tibial	GTEx
rs56161518	ZNF585B	cis	Artery Tibial	GTEx
rs56161518	AC012309.5	cis	Heart Left Ventricle	GTEx

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37464800-37470400	Weak transcription	HSMM	muscle
2	chr19:37464800-37470600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:37464800-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:37464800-37482000	Weak transcription	HSMMtube	muscle
5	chr19:37465000-37469600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:37465000-37470200	Weak transcription	Psoas Muscle	Psoas
7	chr19:37465000-37470200	Weak transcription	Osteobl	bone
8	chr19:37465000-37471600	Weak transcription	Brain Substantia Nigra	brain
9	chr19:37465000-37471600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr19:37465000-37471600	Weak transcription	Thymus	Thymus
11	chr19:37465000-37473600	Weak transcription	Small Intestine	intestine
12	chr19:37465000-37487200	Weak transcription	Placenta	Placenta
13	chr19:37465200-37470200	Weak transcription	Brain Anterior Caudate	brain
14	chr19:37465200-37470800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr19:37465200-37471200	Weak transcription	Colon Smooth Muscle	Colon
16	chr19:37465200-37471200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:37465200-37471400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr19:37465200-37471600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:37465200-37473000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr19:37465200-37473600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:37465200-37476800	Weak transcription	NH-A	brain
22	chr19:37465200-37481800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:37465200-37482600	Weak transcription	Right Ventricle	heart
24	chr19:37465400-37469800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:37465400-37471600	Weak transcription	Brain Angular Gyrus	brain
26	chr19:37465400-37473800	Weak transcription	Spleen	Spleen
27	chr19:37465400-37483400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:37465400-37483600	Weak transcription	Fetal Heart	heart
29	chr19:37465600-37469600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:37465600-37470000	Weak transcription	Brain Germinal Matrix	brain
31	chr19:37465600-37474200	Weak transcription	Colonic Mucosa	Colon
32	chr19:37465600-37482400	Weak transcription	Fetal Kidney	kidney
33	chr19:37466400-37472800	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:37466800-37471600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:37466800-37472000	Strong transcription	Fetal Intestine Large	intestine
36	chr19:37467000-37470400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:37467000-37472200	Strong transcription	Skeletal Muscle Male	skeletal muscle
38	chr19:37467000-37472400	Strong transcription	Dnd41	blood
39	chr19:37467000-37474600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:37468200-37471200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:37468200-37471600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr19:37468400-37469800	ZNF genes & repeats	Lung	lung
43	chr19:37468400-37471000	Strong transcription	Primary T cells from cord blood	blood
44	chr19:37468400-37472200	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:37468400-37472200	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr19:37468400-37472800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr19:37468400-37474400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:37468400-37474400	ZNF genes & repeats	Liver	Liver
49	chr19:37468600-37469600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:37468600-37469600	Strong transcription	Rectal Mucosa Donor 29	rectum

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