Variant report

Variant	rs11050119
Chromosome Location	chr12:29353984-29353985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10431273	0.95[EUR][1000 genomes]
rs10771491	0.84[ASN][1000 genomes]
rs10843341	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050024	1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs11050038	0.82[AMR][1000 genomes]
rs11050080	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11050082	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050085	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050094	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11050097	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050111	0.86[YRI][hapmap]
rs11050116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050120	0.90[YRI][hapmap]
rs11050122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11537408	0.82[AMR][1000 genomes]
rs12578244	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12578576	0.82[JPT][hapmap]
rs12821923	0.88[YRI][hapmap]
rs16934002	0.89[YRI][hapmap]
rs7136405	0.82[AMR][1000 genomes]
rs73073792	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7307501	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308340	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7316695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7954686	0.85[CEU][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7959020	0.82[AMR][1000 genomes]
rs7969699	0.87[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7972016	0.82[AMR][1000 genomes]
rs924108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:29328800-29354200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:29336000-29354000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:29346000-29360800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:29352000-29355600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:29353200-29354000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:29353200-29354200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:29353800-29354000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:29353800-29354000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr12:29353800-29354200	Enhancers	Gastric	stomach
11	chr12:29353800-29354800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:29353800-29355800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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