Variant report

Variant	rs55693818
Chromosome Location	chr12:9514747-9514748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:9514472..9517285-chr12:9517571..9520331,3	K562	blood:
2	chr12:9514676..9517481-chr12:9908794..9910668,2	K562	blood:

Variant related genes	Relation type
ENSG00000260423	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10843459	0.89[ASN][1000 genomes]
rs10843494	0.89[EUR][1000 genomes]
rs10843579	0.90[ASN][1000 genomes]
rs10843607	0.90[ASN][1000 genomes]
rs11050246	0.89[ASN][1000 genomes]
rs11050303	0.89[ASN][1000 genomes]
rs11050304	0.89[ASN][1000 genomes]
rs11050310	0.89[ASN][1000 genomes]
rs11050397	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050527	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050586	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050592	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050604	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050605	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370449	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12370767	0.89[ASN][1000 genomes]
rs12372229	0.97[EUR][1000 genomes]
rs12372791	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804845	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17804911	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113904	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194829	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34591612	1.00[ASN][1000 genomes]
rs36132622	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268554	0.90[ASN][1000 genomes]
rs4444131	0.97[EUR][1000 genomes]
rs4548677	0.90[ASN][1000 genomes]
rs4883242	0.89[ASN][1000 genomes]
rs4883243	0.81[EUR][1000 genomes]
rs4883244	0.92[EUR][1000 genomes]
rs55635549	1.00[ASN][1000 genomes]
rs56014159	0.89[ASN][1000 genomes]
rs56236944	0.89[ASN][1000 genomes]
rs56366134	0.89[ASN][1000 genomes]
rs7295431	0.89[ASN][1000 genomes]
rs7302181	0.89[ASN][1000 genomes]
rs73047561	0.89[ASN][1000 genomes]
rs7310088	0.90[ASN][1000 genomes]
rs7486338	1.00[ASN][1000 genomes]
rs9668938	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv523958	chr12:9303440-9549072	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv557355	chr12:9309995-9529015	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1035953	chr12:9314481-9544655	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv916832	chr12:9397450-9693952	ZNF genes & repeats Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv976736	chr12:9431362-9524845	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv898740	chr12:9436446-9546962	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1050161	chr12:9436635-9685768	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv898741	chr12:9458525-9546962	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv1035958	chr12:9472365-9579109	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv898742	chr12:9473157-9518222	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv898743	chr12:9473157-9522350	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv975403	chr12:9481646-9541991	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	esv3436788	chr12:9499151-9519686	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	esv3332298	chr12:9500121-9519487	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv2760260	chr12:9504060-9519172	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs55693818	LOC728715///OVOS2	Cis_chr	lymphoblastoid	RTeQTL
rs55693818	DDX11///DDX12///LOC642846	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9506800-9516000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:9507000-9516800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:9507000-9517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:9512400-9516200	Strong transcription	Fetal Lung	lung
5	chr12:9514200-9515000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:9514200-9515000	Enhancers	HepG2	liver
7	chr12:9514400-9514800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr12:9514400-9515000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr12:9514400-9515200	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:9514400-9515600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:9514600-9515600	Enhancers	GM12878-XiMat	blood

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