Variant report

Variant	rs73622783
Chromosome Location	chr19:37656057-37656058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1047333	0.86[EUR][1000 genomes]
rs11084871	0.83[EUR][1000 genomes]
rs11666897	0.82[EUR][1000 genomes]
rs11667146	0.81[EUR][1000 genomes]
rs11670216	0.83[EUR][1000 genomes]
rs11673192	0.82[EUR][1000 genomes]
rs11673344	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12151313	0.85[EUR][1000 genomes]
rs1234251	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1533736	0.85[EUR][1000 genomes]
rs1610560	0.83[EUR][1000 genomes]
rs1879497	0.88[EUR][1000 genomes]
rs1962889	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2011475	0.82[EUR][1000 genomes]
rs2562587	0.83[EUR][1000 genomes]
rs45626541	0.90[EUR][1000 genomes]
rs55792845	0.82[EUR][1000 genomes]
rs55921822	0.82[EUR][1000 genomes]
rs56208574	0.82[EUR][1000 genomes]
rs56330606	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57916401	0.80[EUR][1000 genomes]
rs703530	0.82[EUR][1000 genomes]
rs703535	0.82[EUR][1000 genomes]
rs703537	0.83[EUR][1000 genomes]
rs7247589	0.83[EUR][1000 genomes]
rs7256213	0.83[EUR][1000 genomes]
rs7256746	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7256876	0.87[EUR][1000 genomes]
rs7259513	0.87[EUR][1000 genomes]
rs7260386	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8104919	0.82[EUR][1000 genomes]
rs8106386	0.83[EUR][1000 genomes]
rs8107192	0.82[EUR][1000 genomes]
rs8108727	0.88[EUR][1000 genomes]
rs826322	0.83[EUR][1000 genomes]
rs826323	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv2477	chr19:37617348-37662207	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
14	esv3433517	chr19:37643755-37675928	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs73622783	AC012309.5	cis	Heart Left Ventricle	GTEx
rs73622783	AC012309.5	cis	Esophagus Mucosa	GTEx
rs73622783	AC012309.5	cis	Esophagus Muscularis	GTEx
rs73622783	ZNF781	cis	Thyroid	GTEx
rs73622783	AC012309.5	cis	Artery Tibial	GTEx
rs73622783	AC012309.5	cis	Thyroid	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37613800-37662200	ZNF genes & repeats	Liver	Liver
2	chr19:37634400-37657800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:37635000-37656200	ZNF genes & repeats	Fetal Brain Female	brain
4	chr19:37635200-37661400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:37635200-37661600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37637400-37656800	ZNF genes & repeats	Brain Anterior Caudate	brain
7	chr19:37639400-37663200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:37640400-37659000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
9	chr19:37643000-37661400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr19:37643000-37662000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:37643200-37656800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:37643200-37658200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:37643200-37660800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr19:37643200-37661400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:37643200-37662400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:37643400-37658000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
17	chr19:37643400-37659400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
18	chr19:37643400-37659600	ZNF genes & repeats	Adipose Nuclei	Adipose
19	chr19:37643400-37660800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
20	chr19:37643400-37661400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:37643400-37661400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
22	chr19:37643800-37656800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr19:37643800-37662000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:37645600-37661600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:37646400-37662000	ZNF genes & repeats	Fetal Lung	lung
26	chr19:37647000-37658800	Weak transcription	NHDF-Ad	bronchial
27	chr19:37651000-37658000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:37651200-37660000	Strong transcription	Stomach Smooth Muscle	stomach
29	chr19:37651200-37663000	Weak transcription	HSMMtube	muscle
30	chr19:37652200-37662800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr19:37652400-37656200	ZNF genes & repeats	Fetal Muscle Leg	muscle
32	chr19:37652400-37656400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
33	chr19:37652400-37658600	Strong transcription	Dnd41	blood
34	chr19:37652600-37659000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:37652600-37661200	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:37652600-37663000	Weak transcription	NH-A	brain
37	chr19:37652800-37656200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:37652800-37657200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
39	chr19:37652800-37663200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr19:37653000-37656600	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr19:37653200-37657000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
42	chr19:37653200-37657600	Strong transcription	HSMM	muscle
43	chr19:37653200-37658200	Weak transcription	Right Ventricle	heart
44	chr19:37653200-37660600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:37653200-37661200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
46	chr19:37653600-37661200	Strong transcription	Osteobl	bone
47	chr19:37653800-37656800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr19:37653800-37658600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:37653800-37659200	Weak transcription	Fetal Brain Male	brain
50	chr19:37653800-37661200	Strong transcription	Placenta	Placenta

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