Variant report

Variant	rs35782355
Chromosome Location	chr19:21719401-21719402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 27 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11085456	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11666680	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11668682	0.82[AMR][1000 genomes]
rs12461802	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12609768	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12610154	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12973084	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12974329	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12985995	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1401926	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1879237	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1879238	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2133822	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28898308	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34040704	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34497957	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4462731	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56346453	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6511255	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6511259	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7250360	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7250838	0.85[EUR][1000 genomes]
rs7251540	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7251620	0.80[EUR][1000 genomes]
rs7251669	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7252254	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7253559	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7256389	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7257186	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7259317	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73017722	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8101089	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8101900	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8106840	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8109536	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8110459	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8110814	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8111885	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9789284	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	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	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
9	nsv510759	chr19:21664791-21723191	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2762028	chr19:21685778-21755476	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv963024	chr19:21686690-21722618	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv543943	chr19:21713945-21759080	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	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
16	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

mRNA abundance (count:27)

SNP	Gene	Cis/trans	Tissue	Source
rs35782355	RP11-420K14.2	cis	Heart Left Ventricle	GTEx
rs35782355	RP11-678G14.3	cis	Adipose Subcutaneous	GTEx
rs35782355	RP11-678G14.2	cis	Adipose Subcutaneous	GTEx
rs35782355	RP11-678G14.3	cis	Skin Sun Exposed Lower leg	GTEx
rs35782355	RP11-678G14.3	cis	lung	GTEx
rs35782355	RP11-678G14.2	cis	Thyroid	GTEx
rs35782355	RP11-678G14.2	cis	Whole Blood	GTEx
rs35782355	RP11-420K14.2	cis	Whole Blood	GTEx
rs35782355	RP11-678G14.2	cis	lung	GTEx
rs35782355	ZNF429	cis	Muscle Skeletal	GTEx
rs35782355	CTD-2561J22.5	cis	Adipose Subcutaneous	GTEx
rs35782355	RP11-678G14.3	cis	Muscle Skeletal	GTEx
rs35782355	RP11-678G14.2	cis	Muscle Skeletal	GTEx
rs35782355	CTD-2626G11.2	cis	Skin Sun Exposed Lower leg	GTEx
rs35782355	CTD-2561J22.5	cis	Artery Tibial	GTEx
rs35782355	RP11-420K14.1	cis	Muscle Skeletal	GTEx
rs35782355	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs35782355	CTD-2561J22.5	cis	Skin Sun Exposed Lower leg	GTEx
rs35782355	ZNF429	cis	Whole Blood	GTEx
rs35782355	CTD-2561J22.5	cis	lung	GTEx
rs35782355	RP11-678G14.3	cis	Whole Blood	GTEx
rs35782355	CTD-2561J22.5	cis	Nerve Tibial	GTEx
rs35782355	ZNF708	cis	Skin Sun Exposed Lower leg	GTEx
rs35782355	CTD-2561J22.5	cis	Thyroid	GTEx
rs35782355	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs35782355	ZNF100	cis	Muscle Skeletal	GTEx
rs35782355	RP11-678G14.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21699600-21720800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:21699600-21727600	ZNF genes & repeats	Liver	Liver
3	chr19:21701000-21733400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:21701600-21720400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr19:21702400-21721400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:21709000-21722800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:21711600-21720400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr19:21712400-21720400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
9	chr19:21712600-21720200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr19:21713400-21719600	Strong transcription	Ovary	ovary
11	chr19:21713400-21720200	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr19:21713400-21720400	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr19:21713400-21720800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:21713400-21720800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:21713400-21721800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:21713400-21722000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr19:21713400-21722800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr19:21714200-21721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:21714600-21723000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr19:21715200-21720600	ZNF genes & repeats	Fetal Lung	lung
21	chr19:21715200-21728600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:21715800-21720800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
23	chr19:21716200-21720400	ZNF genes & repeats	Dnd41	blood
24	chr19:21716200-21722600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:21716400-21720000	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr19:21716400-21720600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
27	chr19:21716400-21720600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
28	chr19:21716600-21720400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
29	chr19:21716600-21720800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
30	chr19:21716800-21721000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
31	chr19:21717000-21720400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
32	chr19:21717200-21720000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:21717200-21720200	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr19:21717200-21720400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
35	chr19:21717200-21720400	ZNF genes & repeats	Fetal Kidney	kidney
36	chr19:21717200-21720600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:21717200-21720600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
38	chr19:21717400-21720600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:21717400-21720600	ZNF genes & repeats	Brain Germinal Matrix	brain
40	chr19:21718200-21720400	ZNF genes & repeats	Left Ventricle	heart
41	chr19:21718400-21720200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:21718400-21720200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
43	chr19:21718400-21720400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
44	chr19:21718400-21720400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr19:21718400-21720400	ZNF genes & repeats	Brain Hippocampus Middle	brain
46	chr19:21718400-21720600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr19:21718400-21720600	ZNF genes & repeats	Psoas Muscle	Psoas
48	chr19:21718400-21720800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:21718400-21720800	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr19:21718400-21721000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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