Variant report

Variant	rs12799569
Chromosome Location	chr11:108621499-108621500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10732846	0.93[EUR][1000 genomes]
rs12787498	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12788182	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12807367	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466502	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1531470	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947928	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947929	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2061680	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2126570	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615721	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615734	0.85[EUR][1000 genomes]
rs2615735	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2615738	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2615742	0.88[EUR][1000 genomes]
rs2726876	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726880	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726887	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726891	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34746018	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234597	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35396330	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3951111	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4754342	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589029	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68161639	0.80[AMR][1000 genomes]
rs7124142	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129535	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130825	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489910	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489912	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489921	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71489923	0.88[EUR][1000 genomes]
rs73005544	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931638	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108581600-108626600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:108594400-108625400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:108604600-108625600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:108604600-108625800	Weak transcription	Primary T cells from cord blood	blood
5	chr11:108604800-108627800	Weak transcription	Left Ventricle	heart
6	chr11:108605400-108625400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr11:108605800-108622800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:108605800-108663800	Weak transcription	K562	blood
9	chr11:108606000-108627400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:108607600-108622000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:108607600-108644600	Weak transcription	Aorta	Aorta
12	chr11:108607800-108628200	Weak transcription	Liver	Liver
13	chr11:108611000-108625400	Weak transcription	NHLF	lung
14	chr11:108612200-108627400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:108612600-108622400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr11:108612600-108626600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:108612800-108630200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:108614600-108628200	Weak transcription	Pancreas	Pancrea
19	chr11:108614600-108638600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:108615600-108657000	Weak transcription	Primary B cells from cord blood	blood
21	chr11:108616400-108622200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:108617600-108625000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:108617600-108625400	Weak transcription	HSMM	muscle
24	chr11:108617600-108627400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:108618800-108622800	Weak transcription	NHDF-Ad	bronchial
26	chr11:108620400-108625400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:108621200-108622000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:108621400-108625400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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