Variant report

Variant	rs1383102
Chromosome Location	chr12:76016961-76016962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000187109	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000257453	Chromatin interaction

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

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

rs_ID	r²[population]
rs10879940	0.89[AMR][1000 genomes]
rs10879942	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180599	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11180602	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MKK][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147996	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1275473	0.82[EUR][1000 genomes]
rs1275475	0.82[EUR][1000 genomes]
rs1295819	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1679383	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1965925	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2013270	0.80[CEU][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882633	0.80[CEU][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136963	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298332	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300784	0.81[AMR][1000 genomes]
rs7301086	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316871	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7488353	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr12:75980000-76017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:76015600-76018600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:76016000-76017000	Enhancers	Dnd41	blood
4	chr12:76016200-76018200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:76016200-76018200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:76016200-76018400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:76016400-76017600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:76016400-76018000	Enhancers	HUVEC	blood vessel
9	chr12:76016400-76018400	Enhancers	NHEK	skin
10	chr12:76016400-76018600	Enhancers	Hela-S3	cervix
11	chr12:76016400-76018600	Enhancers	HepG2	liver
12	chr12:76016600-76018000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:76016800-76017000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr12:76016800-76017200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:76016800-76017800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:76016800-76017800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:76016800-76018000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:76016800-76018000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:76016800-76020800	Weak transcription	K562	blood

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

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