Variant report

Variant	rs11666897
Chromosome Location	chr19:37681305-37681306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11673344	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1234251	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1879497	0.82[EUR][1000 genomes]
rs1962889	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs45626541	0.91[EUR][1000 genomes]
rs56330606	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7256746	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7260386	0.80[EUR][1000 genomes]
rs73622783	0.82[EUR][1000 genomes]
rs8108727	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv911654	chr19:37487632-37758082	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
13	nsv911655	chr19:37646745-37758082	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11666897	ZNF585B	cis	Esophagus Muscularis	GTEx
rs11666897	ZNF585B	cis	Artery Tibial	GTEx
rs11666897	AC012309.5	cis	Esophagus Muscularis	GTEx
rs11666897	AC012309.5	cis	Heart Left Ventricle	GTEx
rs11666897	AC012309.5	cis	Artery Tibial	GTEx
rs11666897	ZNF585A	Cis_1M	lymphoblastoid	RTeQTL
rs11666897	AC012309.5	cis	Thyroid	GTEx
rs11666897	ZNF781	cis	Thyroid	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37668000-37686000	ZNF genes & repeats	Liver	Liver
2	chr19:37672000-37686400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37672200-37686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37672800-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:37673200-37690600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:37673400-37685400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:37673800-37685600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:37676600-37685200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:37676800-37683000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr19:37676800-37683400	ZNF genes & repeats	Fetal Lung	lung
12	chr19:37676800-37684600	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr19:37676800-37686000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr19:37676800-37686000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:37677000-37683200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:37677000-37683400	ZNF genes & repeats	Fetal Brain Female	brain
17	chr19:37677000-37684800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:37677000-37685600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr19:37677000-37686000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:37677000-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:37677000-37686000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:37677000-37686200	ZNF genes & repeats	Ovary	ovary
23	chr19:37677200-37682600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr19:37677200-37683000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
25	chr19:37677200-37683400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:37677200-37685400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:37677200-37687600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr19:37677400-37684600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:37677400-37685000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr19:37678400-37685000	Strong transcription	Brain Anterior Caudate	brain
31	chr19:37678600-37684800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr19:37678600-37686200	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr19:37678800-37684800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:37679000-37683000	ZNF genes & repeats	Aorta	Aorta
35	chr19:37679000-37683000	ZNF genes & repeats	Lung	lung
36	chr19:37679000-37684800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr19:37679000-37685400	ZNF genes & repeats	Fetal Stomach	stomach
38	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:37679800-37686400	Strong transcription	Brain Hippocampus Middle	brain
40	chr19:37680200-37682200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:37680400-37681400	ZNF genes & repeats	Pancreas	Pancrea
42	chr19:37680600-37681600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:37680600-37682400	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr19:37680600-37682600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:37680600-37683000	Weak transcription	NHEK	skin
46	chr19:37680600-37685200	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr19:37680800-37681400	Weak transcription	Fetal Thymus	thymus
49	chr19:37680800-37681800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:37680800-37682000	Weak transcription	Primary B cells from peripheral blood	blood

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