Variant report

Variant	rs6488042
Chromosome Location	chr12:9762083-9762084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10743789	0.87[ASN][1000 genomes]
rs10771926	0.84[ASN][1000 genomes]
rs10771927	0.86[ASN][1000 genomes]
rs10771929	0.88[ASN][1000 genomes]
rs10771930	0.88[ASN][1000 genomes]
rs10771935	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10771936	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10771947	0.86[ASN][1000 genomes]
rs10844160	0.83[ASN][1000 genomes]
rs10844161	0.83[ASN][1000 genomes]
rs10844196	0.82[ASN][1000 genomes]
rs10844206	0.85[ASN][1000 genomes]
rs10844225	0.86[ASN][1000 genomes]
rs10844233	0.86[ASN][1000 genomes]
rs11051877	0.83[ASN][1000 genomes]
rs11051879	0.83[ASN][1000 genomes]
rs11051959	0.82[ASN][1000 genomes]
rs11052008	0.86[ASN][1000 genomes]
rs11052027	0.87[ASN][1000 genomes]
rs11052031	0.86[ASN][1000 genomes]
rs12301481	0.81[ASN][1000 genomes]
rs12308360	0.81[ASN][1000 genomes]
rs12321613	0.82[ASN][1000 genomes]
rs12580472	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1529418	0.87[ASN][1000 genomes]
rs1529419	0.86[ASN][1000 genomes]
rs1863876	0.81[ASN][1000 genomes]
rs1987426	0.81[ASN][1000 genomes]
rs35721310	0.86[ASN][1000 genomes]
rs4486710	0.80[ASN][1000 genomes]
rs4763675	0.82[ASN][1000 genomes]
rs4763678	0.83[ASN][1000 genomes]
rs5023032	0.86[ASN][1000 genomes]
rs60416399	0.83[ASN][1000 genomes]
rs6488054	0.82[ASN][1000 genomes]
rs66927586	0.81[ASN][1000 genomes]
rs7138619	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72656628	0.81[ASN][1000 genomes]
rs7301291	0.84[ASN][1000 genomes]
rs7310367	0.86[ASN][1000 genomes]
rs7311954	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7314188	0.87[ASN][1000 genomes]
rs7954289	0.87[ASN][1000 genomes]
rs7978641	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6488042	DDX12P	cis	Artery Tibial	GTEx
rs6488042	RP11-22B23.1	cis	Artery Tibial	GTEx
rs6488042	RP13-735L24.1	cis	Muscle Skeletal	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9734400-9763000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9755800-9771200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:9757200-9763000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:9759200-9771200	Weak transcription	Fetal Lung	lung
5	chr12:9760000-9762800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:9760800-9762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:9760800-9762800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:9760800-9762800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:9760800-9763000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:9760800-9763000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:9760800-9763000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:9760800-9767600	Weak transcription	Thymus	Thymus
13	chr12:9760800-9767800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:9761000-9762600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:9761000-9762800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:9761000-9762800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:9761000-9763200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr12:9761000-9767200	Weak transcription	Primary T cells from cord blood	blood
19	chr12:9761200-9762800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:9761200-9763000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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