Variant report

Variant	rs4809140
Chromosome Location	chr19:21765434-21765435
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 42 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11085469	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11879044	0.82[ASN][1000 genomes]
rs12327638	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12608625	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12610221	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12972148	0.82[ASN][1000 genomes]
rs12973203	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12974817	0.82[ASN][1000 genomes]
rs12979255	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1520068	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1520069	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1520070	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1533674	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2102920	0.82[ASN][1000 genomes]
rs34692125	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34835488	0.82[ASN][1000 genomes]
rs35229762	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35465051	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35998933	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3817397	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4809141	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4809146	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4809147	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4809148	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4809151	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4809152	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4809153	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55778393	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59054166	0.82[ASN][1000 genomes]
rs62110244	0.82[ASN][1000 genomes]
rs6511268	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67854708	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67876192	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68172713	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7250457	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7250470	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7250663	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7251111	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7254018	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7254378	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7255081	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8109757	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8111313	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8112960	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv833782	chr19:21663537-21845722	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1059328	chr19:21691123-21775948	Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv543942	chr19:21711611-21767567	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv543944	chr19:21713945-21767567	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv543945	chr19:21717518-21767567	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv828496	chr19:21745795-21766943	Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	nsv543946	chr19:21746555-21767567	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
11	nsv1056332	chr19:21746555-21807647	ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv2760514	chr19:21746688-21766892	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv828500	chr19:21749342-21766517	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	nsv828501	chr19:21749342-21766548	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
15	nsv828502	chr19:21749342-21766943	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
16	nsv828503	chr19:21749342-21767506	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
17	nsv828504	chr19:21749342-21767591	Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
18	nsv828505	chr19:21749342-21770133	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
19	nsv543947	chr19:21749857-21772586	Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
20	esv11151	chr19:21749930-21766243	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
21	nsv911422	chr19:21752009-21973929	ZNF genes & repeats Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv543948	chr19:21763457-21775948	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
23	esv3361264	chr19:21765012-21767610	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:42)

SNP	Gene	Cis/trans	Tissue	Source
rs4809140	LOC400680	Cis_1M	lymphoblastoid	RTeQTL
rs4809140	CTD-2561J22.5	cis	Whole Blood	GTEx
rs4809140	ZNF708	cis	Whole Blood	GTEx
rs4809140	RP11-678G14.3	cis	Artery Aorta	GTEx
rs4809140	ZNF429	cis	Esophagus Mucosa	GTEx
rs4809140	ZNF429	cis	Skin Sun Exposed Lower leg	GTEx
rs4809140	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs4809140	ZNF100	cis	Muscle Skeletal	GTEx
rs4809140	CTD-2561J22.5	cis	Thyroid	GTEx
rs4809140	ZNF493	cis	Esophagus Mucosa	GTEx
rs4809140	RP11-678G14.4	cis	Muscle Skeletal	GTEx
rs4809140	RP11-420K14.2	cis	lung	GTEx
rs4809140	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs4809140	RP11-678G14.2	cis	lung	GTEx
rs4809140	RP11-678G14.3	cis	Esophagus Mucosa	GTEx
rs4809140	CTD-2561J22.5	cis	Esophagus Mucosa	GTEx
rs4809140	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs4809140	ZNF429	cis	Whole Blood	GTEx
rs4809140	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs4809140	CTD-2626G11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs4809140	RP11-678G14.3	cis	Thyroid	GTEx
rs4809140	CTD-2561J22.5	cis	lung	GTEx
rs4809140	ZNF493	cis	Whole Blood	GTEx
rs4809140	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs4809140	RP11-420K14.2	cis	Whole Blood	GTEx
rs4809140	RP11-678G14.2	cis	Thyroid	GTEx
rs4809140	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs4809140	ZNF429	cis	Artery Tibial	GTEx
rs4809140	RP11-678G14.3	cis	Whole Blood	GTEx
rs4809140	ZNF429	cis	lung	GTEx
rs4809140	RP11-420K14.1	cis	Muscle Skeletal	GTEx
rs4809140	RP11-678G14.3	cis	Stomach	GTEx
rs4809140	LINC00664	cis	Whole Blood	GTEx
rs4809140	RP11-678G14.2	cis	Whole Blood	GTEx
rs4809140	LINC00664	cis	Esophagus Mucosa	GTEx
rs4809140	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs4809140	ZNF43	cis	Esophagus Mucosa	GTEx
rs4809140	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs4809140	RP11-678G14.3	cis	lung	GTEx
rs4809140	LINC00664	cis	Muscle Skeletal	GTEx
rs4809140	LINC00664	cis	lung	GTEx
rs4809140	ZNF429	cis	Muscle Skeletal	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21752000-21769600	Weak transcription	Fetal Heart	heart
2	chr19:21752800-21766200	Weak transcription	Fetal Intestine Large	intestine
3	chr19:21753000-21768000	Weak transcription	Fetal Intestine Small	intestine
4	chr19:21760200-21768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21760400-21769000	Weak transcription	Fetal Kidney	kidney
6	chr19:21762600-21766800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:21763400-21767200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:21763400-21767400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:21763400-21768000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:21764000-21767400	Weak transcription	Primary T cells from cord blood	blood
11	chr19:21764000-21767400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr19:21764400-21765600	Transcr. at gene 5' and 3'	Dnd41	blood
13	chr19:21764400-21767600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr19:21764600-21768000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:21764800-21766200	Weak transcription	Gastric	stomach
16	chr19:21764800-21769000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:21765000-21767200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr19:21765200-21766200	Weak transcription	Pancreas	Pancrea

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