Variant report

Variant	rs1796345
Chromosome Location	chr12:42896419-42896420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10880310	0.96[ASN][1000 genomes]
rs10880312	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs11181528	0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11181541	0.94[ASN][1000 genomes]
rs11181546	0.82[JPT][hapmap]
rs12317317	0.94[ASN][1000 genomes]
rs1615978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669930	0.96[ASN][1000 genomes]
rs1669943	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1796346	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2406683	0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2600930	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2708064	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582399	0.94[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	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42878600-42904800	Weak transcription	Right Atrium	heart
2	chr12:42878800-42898000	Weak transcription	HSMMtube	muscle
3	chr12:42878800-42902000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:42879000-42898000	Weak transcription	NH-A	brain
5	chr12:42879000-42901000	Weak transcription	HSMM	muscle
6	chr12:42885400-42913600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:42886800-42904800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:42889400-42898000	Weak transcription	Fetal Stomach	stomach
9	chr12:42889800-42902800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:42890000-42898600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:42890600-42905800	Weak transcription	Osteobl	bone
12	chr12:42891000-42897800	Weak transcription	Fetal Lung	lung
13	chr12:42891000-42898000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:42891000-42898200	Weak transcription	HUVEC	blood vessel
15	chr12:42891000-42910200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:42893000-42896800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:42893000-42901800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:42896400-42898400	Enhancers	Fetal Kidney	kidney
19	chr12:42896400-42899400	Enhancers	Fetal Heart	heart

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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