Variant report

Variant	rs7314188
Chromosome Location	chr12:9771963-9771964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10743789	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771926	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771927	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771929	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771930	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771935	0.88[ASN][1000 genomes]
rs10771936	0.94[ASN][1000 genomes]
rs10771947	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844160	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844161	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10844191	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844196	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10844206	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10844225	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844233	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10844269	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051877	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051879	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11051959	0.94[ASN][1000 genomes]
rs11052008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11052013	0.89[ASN][1000 genomes]
rs11052027	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11052031	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12301481	0.92[ASN][1000 genomes]
rs12308360	0.92[ASN][1000 genomes]
rs12321613	0.94[ASN][1000 genomes]
rs12580472	0.91[ASN][1000 genomes]
rs1529418	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1529419	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863876	0.92[ASN][1000 genomes]
rs1987426	0.92[ASN][1000 genomes]
rs2401386	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35721310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4486710	0.90[ASN][1000 genomes]
rs4763675	0.91[ASN][1000 genomes]
rs4763678	0.86[ASN][1000 genomes]
rs4763715	0.80[ASN][1000 genomes]
rs4763716	0.82[ASN][1000 genomes]
rs4763717	0.80[ASN][1000 genomes]
rs5023032	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60416399	0.92[ASN][1000 genomes]
rs6488042	0.87[ASN][1000 genomes]
rs6488054	0.94[ASN][1000 genomes]
rs66927586	0.92[ASN][1000 genomes]
rs7132715	0.87[ASN][1000 genomes]
rs7138619	0.96[ASN][1000 genomes]
rs72656628	0.91[ASN][1000 genomes]
rs72656629	0.84[ASN][1000 genomes]
rs7301291	0.93[ASN][1000 genomes]
rs7302021	0.85[ASN][1000 genomes]
rs7310367	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7311954	0.92[ASN][1000 genomes]
rs7954289	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7978641	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427903	chr12:9371593-9830668	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
4	esv1821732	chr12:9560087-9830668	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv1823760	chr12:9560087-9830668	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv428271	chr12:9560087-9830668	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS 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	18 gene(s)	inside rSNPs	diseases
7	esv2757489	chr12:9583455-9810764	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv917178	chr12:9637315-9820153	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7314188	RP11-726G1.1	cis	Artery Aorta	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9764200-9777000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr12:9768400-9772200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:9768400-9772200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:9768800-9772800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr12:9768800-9772800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:9769000-9773200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9769200-9773000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:9769400-9777400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:9770200-9776000	Weak transcription	Primary T cells from cord blood	blood
10	chr12:9770200-9786600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:9770400-9773000	Weak transcription	Thymus	Thymus
12	chr12:9770400-9779400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:9770600-9772000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr12:9770600-9772000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:9770600-9775000	Weak transcription	Aorta	Aorta
16	chr12:9770800-9772000	Weak transcription	Primary B cells from cord blood	blood
17	chr12:9771000-9772200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:9771200-9772400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:9771200-9773000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:9771400-9772400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr12:9771600-9772000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:9771600-9772600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:9771600-9794200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:9771600-9799200	Weak transcription	Fetal Lung	lung
25	chr12:9771800-9773200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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