Variant report

Variant	rs11050246
Chromosome Location	chr12:9479218-9479219
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10843459	1.00[ASN][1000 genomes]
rs11050245	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11050254	0.89[ASN][1000 genomes]
rs11050303	1.00[ASN][1000 genomes]
rs11050304	1.00[ASN][1000 genomes]
rs11050310	1.00[ASN][1000 genomes]
rs11050397	0.89[ASN][1000 genomes]
rs11050527	0.89[ASN][1000 genomes]
rs11050586	0.89[ASN][1000 genomes]
rs11050592	0.89[ASN][1000 genomes]
rs11050604	0.89[ASN][1000 genomes]
rs11050605	0.89[ASN][1000 genomes]
rs12370449	0.89[ASN][1000 genomes]
rs12372791	0.89[ASN][1000 genomes]
rs17804845	0.89[ASN][1000 genomes]
rs17804911	0.89[ASN][1000 genomes]
rs2113904	0.89[ASN][1000 genomes]
rs2194829	0.89[ASN][1000 genomes]
rs34591612	0.89[ASN][1000 genomes]
rs36132622	0.89[ASN][1000 genomes]
rs4883242	1.00[ASN][1000 genomes]
rs55635549	0.89[ASN][1000 genomes]
rs55693818	0.89[ASN][1000 genomes]
rs56004061	0.89[ASN][1000 genomes]
rs56014159	1.00[ASN][1000 genomes]
rs56236944	1.00[ASN][1000 genomes]
rs7295431	1.00[ASN][1000 genomes]
rs7302181	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047561	1.00[ASN][1000 genomes]
rs7486338	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv976566	chr12:9469779-9481646	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11050246	LOC728715///OVOS2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9437200-9485200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:9457400-9485800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:9464600-9487600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:9464800-9490000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:9465000-9486400	Weak transcription	A549	lung
6	chr12:9465400-9485200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:9465600-9484000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:9465600-9488000	Weak transcription	Dnd41	blood
9	chr12:9466000-9484000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:9466200-9484000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:9466400-9485200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:9466400-9487200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:9466400-9487600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:9472400-9479400	Weak transcription	Brain Germinal Matrix	brain
15	chr12:9472800-9487600	Weak transcription	Thymus	Thymus
16	chr12:9473000-9479400	Weak transcription	Fetal Thymus	thymus
17	chr12:9473000-9484000	Weak transcription	GM12878-XiMat	blood
18	chr12:9477600-9479600	Flanking Active TSS	Fetal Lung	lung
19	chr12:9477600-9480200	Enhancers	Fetal Muscle Trunk	muscle
20	chr12:9478000-9479400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:9479000-9480000	Enhancers	HepG2	liver
22	chr12:9479000-9480400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:9479000-9480600	Enhancers	Primary T cells from cord blood	blood
24	chr12:9479000-9486800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:9479200-9480400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:9479200-9481000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr12:9479200-9486600	Weak transcription	Fetal Muscle Leg	muscle

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