Variant report

Variant	rs1726717
Chromosome Location	chr19:37327646-37327647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10410980	0.86[EUR][1000 genomes]
rs10420413	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1148384	0.90[ASN][1000 genomes]
rs1148387	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1148400	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1148401	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227560	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227796	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1227797	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1227800	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1227802	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1227803	0.90[ASN][1000 genomes]
rs1227805	0.90[ASN][1000 genomes]
rs1227806	0.90[ASN][1000 genomes]
rs1227809	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1227824	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1227826	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1227863	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1227864	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1227865	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1227867	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12982205	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1302670	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1726703	0.91[ASN][1000 genomes]
rs2445877	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2445878	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2695086	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28372636	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35967992	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3745775	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806353	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4806365	0.84[EUR][1000 genomes]
rs531870	0.82[AFR][1000 genomes]
rs542847	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57193089	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62114321	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62114322	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8106994	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	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
6	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv3517005	chr19:37193712-37364110	Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv3517004	chr19:37193762-37363960	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv3517006	chr19:37193762-37363960	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv911650	chr19:37241141-37331614	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv521605	chr19:37261810-37483444	ZNF genes & repeats Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv1060155	chr19:37274915-37458788	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv544000	chr19:37274915-37458788	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription 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	14 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	nsv911651	chr19:37300554-37428465	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription 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	12 gene(s)	inside rSNPs	diseases
20	esv3354270	chr19:37309161-37364929	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	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
22	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1726717	AC012309.5	cis	Esophagus Mucosa	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37292000-37328400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
2	chr19:37298400-37328200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37303200-37327800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr19:37303200-37327800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr19:37303200-37328000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:37311000-37328200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:37312600-37328000	ZNF genes & repeats	Fetal Intestine Small	intestine
8	chr19:37318200-37328200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:37322600-37328200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:37323600-37328200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr19:37323600-37328200	Weak transcription	Gastric	stomach
12	chr19:37323600-37328200	Weak transcription	Right Ventricle	heart
13	chr19:37323600-37328200	Weak transcription	HUVEC	blood vessel
14	chr19:37323600-37328600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:37323800-37328000	Weak transcription	HSMMtube	muscle
16	chr19:37324800-37327800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
17	chr19:37324800-37328400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:37325000-37328200	Weak transcription	Placenta	Placenta
19	chr19:37325200-37328200	Weak transcription	Left Ventricle	heart
20	chr19:37325600-37328000	Weak transcription	Osteobl	bone
21	chr19:37325600-37328200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr19:37325800-37328200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:37326200-37327800	Weak transcription	Fetal Stomach	stomach
24	chr19:37326400-37328000	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr19:37326400-37328600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:37326800-37327800	Weak transcription	Fetal Heart	heart
27	chr19:37326800-37328000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:37327000-37327800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:37327000-37327800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:37327000-37328000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr19:37327000-37328000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:37327000-37328000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr19:37327000-37328000	Weak transcription	Brain Germinal Matrix	brain
34	chr19:37327000-37328000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:37327000-37328200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr19:37327000-37328200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:37327000-37328200	Weak transcription	Colonic Mucosa	Colon
38	chr19:37327200-37327800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:37327200-37327800	Weak transcription	Fetal Lung	lung
40	chr19:37327200-37328000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:37327200-37328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr19:37327200-37328000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:37327200-37328200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr19:37327200-37328200	Weak transcription	Brain Substantia Nigra	brain
45	chr19:37327200-37328200	Weak transcription	Fetal Brain Female	brain
46	chr19:37327200-37328200	Weak transcription	Psoas Muscle	Psoas
47	chr19:37327400-37327800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:37327400-37327800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:37327400-37327800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:37327400-37328000	Weak transcription	Brain Hippocampus Middle	brain

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