Variant report

Variant	rs7300793
Chromosome Location	chr12:9745823-9745824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1008611	1.00[JPT][hapmap]
rs10466762	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10743776	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10743820	1.00[JPT][hapmap]
rs10743822	1.00[JPT][hapmap]
rs10772005	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10772006	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10772104	1.00[JPT][hapmap]
rs10772119	1.00[JPT][hapmap]
rs10772120	1.00[JPT][hapmap]
rs10844350	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844351	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844359	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10844372	1.00[JPT][hapmap]
rs10844418	1.00[JPT][hapmap]
rs10844424	1.00[JPT][hapmap]
rs10844429	1.00[JPT][hapmap]
rs10844780	1.00[JPT][hapmap]
rs11052234	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052241	1.00[JPT][hapmap]
rs11052254	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11052430	1.00[JPT][hapmap]
rs11053051	1.00[JPT][hapmap]
rs1159189	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12366653	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12368445	1.00[JPT][hapmap]
rs12578928	1.00[JPT][hapmap]
rs12810851	1.00[JPT][hapmap]
rs12823699	1.00[JPT][hapmap]
rs12824491	1.00[JPT][hapmap]
rs12825507	1.00[JPT][hapmap]
rs12828602	1.00[JPT][hapmap]
rs12830419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12831453	1.00[JPT][hapmap]
rs1560008	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16913477	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1863871	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1990533	1.00[JPT][hapmap]
rs2114869	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2114872	1.00[JPT][hapmap]
rs2191964	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2401396	1.00[JPT][hapmap]
rs2401397	1.00[JPT][hapmap]
rs2401398	1.00[JPT][hapmap]
rs3176800	1.00[JPT][hapmap]
rs3176802	1.00[JPT][hapmap]
rs3176806	1.00[JPT][hapmap]
rs4140910	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4763620	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6416258	1.00[JPT][hapmap]
rs6488025	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488026	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6488065	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs704223	1.00[JPT][hapmap]
rs7132037	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7302110	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7302746	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7304321	1.00[JPT][hapmap]
rs7304464	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7305404	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306188	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7309800	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7310568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7310790	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7310897	1.00[JPT][hapmap]
rs7311421	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7311574	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7311945	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7312624	1.00[JPT][hapmap]
rs7313960	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7315769	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7956739	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7961416	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7962321	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7974871	1.00[JPT][hapmap]
rs7978187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs929615	1.00[JPT][hapmap]
rs9630265	1.00[JPT][hapmap]
rs982511	1.00[JPT][hapmap]
rs9919786	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv602	chr12:9609303-9748494	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1848410	chr12:9621946-9751543	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1832716	chr12:9632656-9751363	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv898751	chr12:9635612-9747466	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	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
13	nsv898752	chr12:9644018-9747466	Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv898753	chr12:9644018-9755578	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv898754	chr12:9696687-9755578	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv983449	chr12:9743047-9746698	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7300793	RP11-22B23.1	cis	Heart Left Ventricle	GTEx
rs7300793	RP11-22B23.1	cis	Artery Tibial	GTEx
rs7300793	RP11-22B23.1	cis	Skin Sun Exposed Lower leg	GTEx
rs7300793	LOC728715///OVOS2	Cis_chr	lymphoblastoid	RTeQTL
rs7300793	DDX11///DDX12///LOC642846	Cis_chr	lymphoblastoid	RTeQTL
rs7300793	RP11-22B23.1	cis	Thyroid	GTEx
rs7300793	RP11-22B23.1	cis	Muscle Skeletal	GTEx
rs7300793	RP11-22B23.1	cis	lung	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9723400-9750600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:9734400-9763000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:9736000-9760200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:9738200-9759600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:9744600-9748600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:9744600-9755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:9745600-9746000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:9745600-9755600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:9745800-9750000	Weak transcription	Primary T cells fromperipheralblood	blood

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