Variant report

Variant	rs56315383
Chromosome Location	chr12:42891531-42891532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12311369	0.86[ASN][1000 genomes]
rs12315374	0.86[ASN][1000 genomes]
rs12317555	0.86[ASN][1000 genomes]
rs12317568	0.86[ASN][1000 genomes]
rs12319896	0.83[ASN][1000 genomes]
rs56691329	0.86[ASN][1000 genomes]
rs73275835	0.86[ASN][1000 genomes]
rs73275837	0.82[ASN][1000 genomes]
rs73275845	0.86[ASN][1000 genomes]
rs73275847	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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	chr12:42878600-42892600	Weak transcription	Right Ventricle	heart
2	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
3	chr12:42878800-42896400	Weak transcription	Fetal Kidney	kidney
4	chr12:42878800-42898000	Weak transcription	HSMMtube	muscle
5	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:42879000-42898000	Weak transcription	NH-A	brain
7	chr12:42879000-42901000	Weak transcription	HSMM	muscle
8	chr12:42884200-42896200	Weak transcription	Lung	lung
9	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:42886400-42891600	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:42886400-42892800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:42886800-42904800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:42888200-42892600	Weak transcription	Fetal Heart	heart
14	chr12:42889400-42898000	Weak transcription	Fetal Stomach	stomach
15	chr12:42889800-42902800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:42890000-42898600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:42890600-42905800	Weak transcription	Osteobl	bone
18	chr12:42891000-42892400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:42891000-42897800	Weak transcription	Fetal Lung	lung
20	chr12:42891000-42898000	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:42891000-42898200	Weak transcription	HUVEC	blood vessel
22	chr12:42891000-42910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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