Variant report

Variant	rs12112891
Chromosome Location	chr7:69842420-69842421
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10486876	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11767563	0.93[EUR][1000 genomes]
rs11770963	0.81[AMR][1000 genomes]
rs11773411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12113743	0.81[AMR][1000 genomes]
rs1557920	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2107618	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34944443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55946510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56063609	0.81[AMR][1000 genomes]
rs56107513	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56388246	0.81[AMR][1000 genomes]
rs56410838	0.81[AMR][1000 genomes]
rs56669413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57370717	0.81[AMR][1000 genomes]
rs57450711	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57710795	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60311938	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60365988	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60847182	0.81[AMR][1000 genomes]
rs61171607	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66668176	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66866439	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6946732	0.93[EUR][1000 genomes]
rs73173531	0.81[AMR][1000 genomes]
rs73173550	0.81[AMR][1000 genomes]
rs73173566	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73173577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73173581	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73173583	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73175903	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73175910	0.93[EUR][1000 genomes]
rs73175914	0.87[EUR][1000 genomes]
rs73175915	0.93[EUR][1000 genomes]
rs73175921	0.93[EUR][1000 genomes]
rs73175928	0.93[EUR][1000 genomes]
rs73175930	0.93[EUR][1000 genomes]
rs7795355	0.93[EUR][1000 genomes]
rs7797273	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1028870	chr7:69742438-69879231	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	esv3381389	chr7:69841516-69843464	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69832000-69842600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:69838000-69845400	Weak transcription	Ovary	ovary
3	chr7:69838200-69847600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:69838400-69846600	Weak transcription	Fetal Brain Male	brain
5	chr7:69840200-69845400	Weak transcription	Aorta	Aorta
6	chr7:69841600-69845400	Weak transcription	Lung	lung
7	chr7:69841800-69847600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:69841800-69852200	Weak transcription	Left Ventricle	heart
9	chr7:69842000-69844600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:69842000-69845400	Weak transcription	Right Atrium	heart
11	chr7:69842000-69847000	Weak transcription	Fetal Brain Female	brain
12	chr7:69842000-69849000	Weak transcription	Fetal Heart	heart
13	chr7:69842200-69844200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:69842200-69844400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:69842200-69845000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:69842200-69849200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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