Variant report

Variant	rs11050144
Chromosome Location	chr12:29386695-29386696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10083003	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10771499	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10771500	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10843350	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050136	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11050140	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050142	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12310555	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34036230	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136407	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9300188	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9919747	0.99[EUR][1000 genomes];0.94[ASN][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:29379000-29388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:29379000-29393400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:29380400-29392000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:29381000-29393200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:29381800-29394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:29381800-29394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:29382000-29390000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:29382200-29393400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:29383200-29391600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:29383400-29392000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:29384000-29393200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:29384400-29393200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:29385400-29386800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:29385600-29386800	Weak transcription	HUVEC	blood vessel
17	chr12:29386000-29388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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