Variant report

Variant	rs11672526
Chromosome Location	chr19:21339837-21339838
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs25760	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs29701	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29702	0.87[EUR][1000 genomes]
rs29704	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29706	0.87[EUR][1000 genomes]
rs29709	0.86[EUR][1000 genomes]
rs29710	0.87[EUR][1000 genomes]
rs29711	0.87[EUR][1000 genomes]
rs29712	0.86[EUR][1000 genomes]
rs29713	0.87[EUR][1000 genomes]
rs29714	0.87[EUR][1000 genomes]
rs29716	0.87[EUR][1000 genomes]
rs29717	0.87[EUR][1000 genomes]
rs29721	0.87[EUR][1000 genomes]
rs29723	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29724	0.89[ASN][1000 genomes]
rs29726	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs29727	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs29730	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs459620	0.87[EUR][1000 genomes]
rs466262	0.86[EUR][1000 genomes]
rs467187	0.86[EUR][1000 genomes]
rs62124917	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62124923	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62124924	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7259520	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73026700	0.95[ASN][1000 genomes]
rs73028504	0.95[ASN][1000 genomes]
rs8101995	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9630897	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385528	chr19:21030777-21495566	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
2	nsv817536	chr19:21041855-21348237	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription ZNF genes & repeats Flanking 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	25 gene(s)	inside rSNPs	diseases
3	nsv960811	chr19:21200306-21371757	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv3399352	chr19:21232738-21423323	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1065384	chr19:21249321-21350698	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv911413	chr19:21263518-21347598	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11672526	ZNF708	cis	lung	GTEx
rs11672526	ZNF708	cis	Muscle Skeletal	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325400-21361800	Weak transcription	Small Intestine	intestine
2	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:21326000-21352600	Weak transcription	Right Ventricle	heart
4	chr19:21326000-21361000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr19:21326800-21361800	Weak transcription	Stomach Mucosa	stomach
6	chr19:21327000-21342800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:21327000-21347000	Weak transcription	Hela-S3	cervix
8	chr19:21331000-21371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:21331200-21340000	Weak transcription	NHLF	lung
10	chr19:21332200-21341400	Weak transcription	Osteobl	bone
11	chr19:21332800-21356400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:21333000-21350000	Weak transcription	Fetal Kidney	kidney
13	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:21333200-21341600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:21333200-21347000	Weak transcription	Gastric	stomach
16	chr19:21333200-21357400	Weak transcription	Pancreas	Pancrea
17	chr19:21333400-21364800	Weak transcription	HUVEC	blood vessel
18	chr19:21334000-21344400	Weak transcription	Spleen	Spleen
19	chr19:21334600-21360800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr19:21335000-21365000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:21335800-21343000	Weak transcription	NH-A	brain
22	chr19:21335800-21348200	Weak transcription	Brain Substantia Nigra	brain
23	chr19:21335800-21357000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:21335800-21362800	Weak transcription	Psoas Muscle	Psoas
25	chr19:21336000-21341200	Weak transcription	Ovary	ovary
26	chr19:21336000-21341400	Weak transcription	HMEC	breast
27	chr19:21336000-21357800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr19:21336000-21362000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr19:21336200-21340200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr19:21336200-21341400	Weak transcription	NHEK	skin
31	chr19:21336200-21343000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:21336200-21344600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:21336200-21346000	Weak transcription	HSMMtube	muscle
34	chr19:21336200-21349800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr19:21336200-21349800	Weak transcription	Fetal Lung	lung
36	chr19:21336200-21350000	Weak transcription	Adipose Nuclei	Adipose
37	chr19:21336200-21350000	Weak transcription	Placenta	Placenta
38	chr19:21336200-21350400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:21336200-21351800	Weak transcription	Brain Anterior Caudate	brain
40	chr19:21336200-21352200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr19:21336200-21361800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr19:21336200-21361800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:21336400-21341400	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:21336400-21342800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:21336400-21344000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr19:21336400-21344400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr19:21336400-21349400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:21336600-21343000	Weak transcription	HSMM	muscle
49	chr19:21336600-21360600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:21336800-21345800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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