Variant report

Variant	rs11050137
Chromosome Location	chr12:29374708-29374709
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11050133	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050134	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12299091	0.89[EUR][1000 genomes]
rs12299148	0.89[EUR][1000 genomes]
rs12299228	0.89[EUR][1000 genomes]
rs12300384	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307237	0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12307346	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12309283	0.89[EUR][1000 genomes]
rs12309340	0.89[EUR][1000 genomes]
rs12319661	0.89[EUR][1000 genomes]
rs12320498	0.89[EUR][1000 genomes]
rs16934037	0.89[EUR][1000 genomes]
rs766764	0.89[EUR][1000 genomes]
rs7960834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804966	0.89[EUR][1000 genomes]
rs9804995	0.89[EUR][1000 genomes]
rs9804996	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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 target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29363800-29377800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:29365600-29378600	Weak transcription	Small Intestine	intestine
4	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:29370600-29376000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:29370600-29376400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:29370600-29376800	Weak transcription	NHDF-Ad	bronchial
8	chr12:29370800-29376800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:29371000-29376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:29373000-29375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:29373200-29377800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:29373600-29375800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:29374200-29378400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:29374400-29377600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:29374400-29378600	Weak transcription	Fetal Intestine Large	intestine
16	chr12:29374400-29380200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:29374600-29374800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr12:29374600-29375200	Enhancers	Placenta	Placenta

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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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