Variant report

Variant	rs11085450
Chromosome Location	chr19:21637051-21637052
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10405716	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1055753	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11085447	0.80[ASN][1000 genomes]
rs11667259	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11667770	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11668682	0.83[ASN][1000 genomes]
rs11668691	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11669043	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11669130	0.84[ASN][1000 genomes]
rs11671265	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12609768	0.80[ASN][1000 genomes]
rs12609823	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12979646	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12983787	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1976384	0.82[ASN][1000 genomes]
rs2086320	0.80[ASN][1000 genomes]
rs2133819	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2170024	0.80[ASN][1000 genomes]
rs2170025	0.80[ASN][1000 genomes]
rs2358991	0.80[ASN][1000 genomes]
rs2358992	0.80[ASN][1000 genomes]
rs2434997	0.80[ASN][1000 genomes]
rs2650774	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28498118	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2914638	0.80[ASN][1000 genomes]
rs2914648	0.82[EUR][1000 genomes]
rs2914649	0.82[EUR][1000 genomes]
rs2937158	0.81[EUR][1000 genomes]
rs2937159	0.81[EUR][1000 genomes]
rs2968084	0.82[EUR][1000 genomes]
rs34152818	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35773446	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35994743	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3973190	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4306654	0.90[ASN][1000 genomes]
rs4621113	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56346453	0.85[ASN][1000 genomes]
rs6511237	0.82[EUR][1000 genomes]
rs6511238	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511239	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511242	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6511245	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6511246	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7245729	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7246883	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7247060	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7247411	0.80[ASN][1000 genomes]
rs7248601	0.82[ASN][1000 genomes]
rs7248989	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7249412	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7253886	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7254059	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7257580	0.80[ASN][1000 genomes]
rs7257857	0.80[ASN][1000 genomes]
rs7259311	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8111549	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs924487	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs951162	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9973240	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS 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	31 gene(s)	inside rSNPs	diseases
6	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv3506838	chr19:21634362-21639360	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv3506836	chr19:21635212-21639260	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv3318451	chr19:21635509-21638444	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	esv3506839	chr19:21635719-21638172	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
12	esv3506837	chr19:21635741-21638221	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	esv3506835	chr19:21635771-21638196	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	esv3318453	chr19:21635803-21638214	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	esv3506842	chr19:21635832-21638150	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
16	esv3506843	chr19:21635832-21638150	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
17	esv3318454	chr19:21635888-21638118	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
18	esv16977	chr19:21636210-21638009	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
19	nsv961284	chr19:21636687-21659271	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:22)

SNP	Gene	Cis/trans	Tissue	Source
rs11085450	ZNF429	cis	Muscle Skeletal	GTEx
rs11085450	CTD-2561J22.5	cis	lung	GTEx
rs11085450	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs11085450	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs11085450	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs11085450	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs11085450	RP11-420K14.1	cis	Muscle Skeletal	GTEx
rs11085450	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs11085450	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs11085450	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs11085450	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11085450	RP11-678G14.2	cis	lung	GTEx
rs11085450	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs11085450	RP11-678G14.3	cis	lung	GTEx
rs11085450	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs11085450	LINC00664	cis	Adipose Subcutaneous	GTEx
rs11085450	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs11085450	RP11-678G14.2	cis	Whole Blood	GTEx
rs11085450	CTD-2561J22.5	cis	Thyroid	GTEx
rs11085450	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs11085450	RP11-678G14.2	cis	Thyroid	GTEx
rs11085450	CTD-2561J22.5	cis	Nerve Tibial	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21629800-21641400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr19:21630000-21642000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr19:21630200-21643800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:21630400-21643800	ZNF genes & repeats	Dnd41	blood
5	chr19:21631000-21638400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:21631800-21638200	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr19:21632000-21637200	Weak transcription	Primary T cells from cord blood	blood
8	chr19:21632200-21638000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:21632200-21638000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:21633800-21641400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:21633800-21641400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr19:21634600-21637400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:21634600-21641600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:21634800-21637400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:21635200-21637200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr19:21635600-21637400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:21635600-21642000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr19:21635600-21642000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
19	chr19:21635800-21637400	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr19:21635800-21638400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:21635800-21638400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:21635800-21641200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr19:21636000-21637400	Weak transcription	Thymus	Thymus
24	chr19:21636200-21638200	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr19:21636200-21641000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
26	chr19:21636600-21637400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:21636600-21637400	Weak transcription	Fetal Stomach	stomach
28	chr19:21636600-21638600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
29	chr19:21636600-21639800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr19:21636800-21640000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr19:21636800-21641400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr19:21636800-21645800	Weak transcription	Fetal Kidney	kidney
33	chr19:21636800-21646200	Weak transcription	Fetal Heart	heart
34	chr19:21637000-21637600	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr19:21637000-21638200	Strong transcription	Ovary	ovary
36	chr19:21637000-21638600	ZNF genes & repeats	Fetal Lung	lung

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