Variant report

Variant	rs12319491
Chromosome Location	chr12:29225984-29225985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11050001	1.00[EUR][1000 genomes]
rs11050015	1.00[EUR][1000 genomes]
rs11050022	1.00[EUR][1000 genomes]
rs11050023	1.00[EUR][1000 genomes]
rs11050031	1.00[EUR][1000 genomes]
rs11050102	1.00[EUR][1000 genomes]
rs11050109	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11050127	1.00[EUR][1000 genomes]
rs11050130	1.00[EUR][1000 genomes]
rs11050131	1.00[EUR][1000 genomes]
rs11050138	1.00[CEU][hapmap]
rs11834972	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12298807	1.00[EUR][1000 genomes]
rs12299296	1.00[EUR][1000 genomes]
rs12299378	1.00[EUR][1000 genomes]
rs12302693	1.00[EUR][1000 genomes]
rs12305640	1.00[EUR][1000 genomes]
rs12305958	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12306317	1.00[EUR][1000 genomes]
rs12308307	1.00[EUR][1000 genomes]
rs12309725	1.00[EUR][1000 genomes]
rs12311253	1.00[EUR][1000 genomes]
rs12313631	1.00[CEU][hapmap]
rs12314772	1.00[EUR][1000 genomes]
rs12315253	1.00[EUR][1000 genomes]
rs12315255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12316813	1.00[EUR][1000 genomes]
rs12318343	1.00[EUR][1000 genomes]
rs12319600	1.00[CEU][hapmap]
rs12319668	1.00[EUR][1000 genomes]
rs12322477	1.00[EUR][1000 genomes]
rs55710291	0.90[AFR][1000 genomes]
rs56235020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59858313	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67200761	1.00[EUR][1000 genomes]
rs73061729	1.00[EUR][1000 genomes]
rs73061748	1.00[EUR][1000 genomes]
rs73063778	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73063781	1.00[EUR][1000 genomes]
rs73063782	1.00[EUR][1000 genomes]
rs73063783	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73065622	1.00[EUR][1000 genomes]
rs73065637	1.00[EUR][1000 genomes]
rs73067717	1.00[EUR][1000 genomes]
rs73067752	1.00[EUR][1000 genomes]
rs73068496	1.00[EUR][1000 genomes]
rs73070471	1.00[EUR][1000 genomes]
rs73070475	1.00[EUR][1000 genomes]
rs73070476	1.00[EUR][1000 genomes]
rs73071945	1.00[EUR][1000 genomes]
rs73071951	1.00[EUR][1000 genomes]
rs73071976	1.00[EUR][1000 genomes]
rs73071996	1.00[EUR][1000 genomes]
rs73072288	1.00[EUR][1000 genomes]
rs73073756	1.00[EUR][1000 genomes]
rs73073757	1.00[EUR][1000 genomes]
rs73073797	1.00[EUR][1000 genomes]
rs73073798	1.00[EUR][1000 genomes]
rs73075593	1.00[EUR][1000 genomes]
rs73077508	1.00[EUR][1000 genomes]
rs73077524	1.00[EUR][1000 genomes]
rs73077528	1.00[EUR][1000 genomes]
rs73077530	1.00[EUR][1000 genomes]
rs73077591	1.00[EUR][1000 genomes]
rs73077598	1.00[EUR][1000 genomes]
rs73079508	1.00[EUR][1000 genomes]
rs73079510	1.00[EUR][1000 genomes]
rs73079530	1.00[EUR][1000 genomes]
rs74076456	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv2758301	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2759888	chr12:29110782-29289849	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv519276	chr12:29210121-29226080	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv557914	chr12:29210121-29226080	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29220600-29228200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:29221800-29227000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:29222600-29226800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr12:29222800-29226800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:29222800-29227000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:29223800-29227200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:29224200-29226000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr12:29224200-29226600	Enhancers	NHDF-Ad	bronchial
9	chr12:29224400-29226000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:29224400-29226600	Weak transcription	Brain Anterior Caudate	brain
11	chr12:29224400-29228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:29224600-29227200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr12:29224800-29228200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:29225000-29227200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:29225200-29226800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:29225400-29226000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:29225400-29226600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:29225400-29226600	Enhancers	NHEK	skin
19	chr12:29225600-29226000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:29225600-29227200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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