Variant report

Variant	rs12313351
Chromosome Location	chr12:42888872-42888873
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12311369	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12315374	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12317555	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12317568	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12319896	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55898220	1.00[EUR][1000 genomes]
rs56691329	0.93[ASN][1000 genomes]
rs73275835	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73275837	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73275845	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73275847	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73277834	1.00[EUR][1000 genomes]
rs73277836	1.00[EUR][1000 genomes]
rs73277838	1.00[EUR][1000 genomes]
rs73277841	1.00[EUR][1000 genomes]
rs73277843	1.00[EUR][1000 genomes]
rs73279705	1.00[EUR][1000 genomes]
rs74080115	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832388	chr12:42878328-43087069	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522388	chr12:42886217-42890091	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
5	nsv524513	chr12:42886217-42895401	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42878600-42889000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:42878600-42892600	Weak transcription	Right Ventricle	heart
3	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
4	chr12:42878800-42896400	Weak transcription	Fetal Kidney	kidney
5	chr12:42878800-42898000	Weak transcription	HSMMtube	muscle
6	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:42879000-42898000	Weak transcription	NH-A	brain
8	chr12:42879000-42901000	Weak transcription	HSMM	muscle
9	chr12:42880800-42889200	Weak transcription	HUVEC	blood vessel
10	chr12:42881000-42890200	Weak transcription	Fetal Lung	lung
11	chr12:42881400-42889800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:42884200-42896200	Weak transcription	Lung	lung
13	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:42886400-42891600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:42886400-42892800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:42886600-42889000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:42886800-42904800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:42887600-42890600	Strong transcription	Osteobl	bone
19	chr12:42888200-42892600	Weak transcription	Fetal Heart	heart
20	chr12:42888800-42889200	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:42888800-42889400	Strong transcription	Fetal Stomach	stomach
22	chr12:42888800-42890000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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