Variant report

Variant	rs7247730
Chromosome Location	chr19:21362833-21362834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10414473	0.82[EUR][1000 genomes]
rs10415009	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11671623	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12608652	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12976375	0.81[ASN][1000 genomes]
rs1645791	0.84[ASN][1000 genomes]
rs1781860	0.81[ASN][1000 genomes]
rs1781861	0.84[ASN][1000 genomes]
rs1781862	0.84[ASN][1000 genomes]
rs2081183	0.84[ASN][1000 genomes]
rs2081186	0.84[ASN][1000 genomes]
rs4305209	0.81[ASN][1000 genomes]
rs4411627	0.81[ASN][1000 genomes]
rs4482412	0.81[ASN][1000 genomes]
rs4493182	0.81[ASN][1000 genomes]
rs4560042	0.81[ASN][1000 genomes]
rs4606860	0.81[ASN][1000 genomes]
rs6511207	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7247871	0.81[ASN][1000 genomes]
rs7247882	0.81[ASN][1000 genomes]
rs7248088	0.81[ASN][1000 genomes]
rs7254094	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7254835	0.84[ASN][1000 genomes]
rs7254957	0.84[ASN][1000 genomes]
rs7257196	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7258575	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7259368	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8108314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	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
4	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
5	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
6	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
7	nsv911414	chr19:21355473-21454672	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7247730	ZNF493	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21325600-21365800	Weak transcription	Brain Angular Gyrus	brain
2	chr19:21331000-21371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:21333000-21373000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:21333400-21364800	Weak transcription	HUVEC	blood vessel
5	chr19:21335000-21365000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:21345600-21363000	Weak transcription	HepG2	liver
7	chr19:21348600-21366400	Weak transcription	Brain Substantia Nigra	brain
8	chr19:21349600-21370600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr19:21349800-21363200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:21351400-21363800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
11	chr19:21352200-21363800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:21353200-21363000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:21353200-21364800	Weak transcription	Brain Anterior Caudate	brain
14	chr19:21353200-21364800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:21353400-21363400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:21353800-21364800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:21355000-21369600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:21355200-21369400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:21355200-21370800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:21355200-21371000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:21356400-21364400	Strong transcription	Ovary	ovary
22	chr19:21356600-21368600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
23	chr19:21357400-21366000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr19:21357400-21369000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr19:21358000-21366000	Weak transcription	Right Ventricle	heart
26	chr19:21358200-21368600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr19:21358400-21363400	Weak transcription	Pancreas	Pancrea
28	chr19:21358600-21369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:21358800-21363000	Weak transcription	Colonic Mucosa	Colon
30	chr19:21358800-21363400	Weak transcription	Esophagus	oesophagus
31	chr19:21358800-21365000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:21359200-21364000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:21359400-21364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr19:21359600-21369000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
35	chr19:21359800-21367400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:21359800-21367600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
37	chr19:21359800-21370200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr19:21360000-21363000	Weak transcription	A549	lung
39	chr19:21360000-21364200	Strong transcription	HSMM	muscle
40	chr19:21360000-21371200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:21360200-21367200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
42	chr19:21360400-21366800	Weak transcription	Lung	lung
43	chr19:21360400-21371200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:21360600-21366200	ZNF genes & repeats	Dnd41	blood
45	chr19:21360600-21367400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
46	chr19:21360600-21368600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:21360800-21363000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:21360800-21363400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:21360800-21367200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
50	chr19:21360800-21368400	ZNF genes & repeats	Primary B cells from cord blood	blood

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