Variant report

Variant	rs11182312
Chromosome Location	chr12:44259319-44259320
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12299112	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299151	1.00[EUR][1000 genomes]
rs12307180	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307644	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406786	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675759	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133336	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44230800-44260200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:44231200-44261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr12:44234600-44260000	Weak transcription	Psoas Muscle	Psoas
4	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
5	chr12:44252200-44260800	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:44255800-44260400	Weak transcription	Fetal Stomach	stomach
7	chr12:44256000-44259400	Weak transcription	Osteobl	bone
8	chr12:44256000-44260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:44256200-44260800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:44256400-44260600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
12	chr12:44256600-44260600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:44256600-44263000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:44256600-44263000	Weak transcription	NHEK	skin
15	chr12:44256800-44263200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:44258200-44273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:44259000-44259400	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr12:44259000-44260200	Weak transcription	Fetal Intestine Large	intestine
19	chr12:44259200-44263000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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