Variant report

Variant	rs1392338
Chromosome Location	chr12:33147864-33147865
allele	A/G
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]
rs10506098	0.96[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10844419	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10844420	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11052374	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12367646	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368614	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12422560	0.91[EUR][1000 genomes]
rs1353933	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1392337	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827187	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4931676	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4931678	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4931679	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7296030	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7305797	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7306202	0.82[EUR][1000 genomes]
rs983577	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs983578	0.85[AMR][1000 genomes];0.88[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	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv832367	chr12:33063644-33298967	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1039909	chr12:33132909-33244419	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1053849	chr12:33132909-33279169	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33140600-33164800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:33143000-33149800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:33143800-33150400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:33144200-33150000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:33144400-33150000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:33146800-33148000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:33147000-33148000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:33147000-33148000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:33147000-33148400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:33147200-33148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:33147600-33150200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:33147600-33150200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:33147800-33149000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:33147800-33150200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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