Variant report

Variant	rs10748048
Chromosome Location	chr12:66891910-66891911
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10748052	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784550	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784553	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10878443	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878444	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878445	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11176242	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11835094	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12099827	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12316942	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1389329	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1493483	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904513	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4322492	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4544083	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4583057	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4644700	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4913320	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7131852	0.87[EUR][1000 genomes]
rs7294896	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7298223	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7973560	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs903087	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs903088	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs931515	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs987562	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv832449	chr12:66885819-67069953	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66876400-66893600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66888000-66892400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:66889000-66895000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr12:66889400-66893000	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:66889400-66894400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:66889400-66895000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:66890600-66892200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:66890600-66909200	Weak transcription	Pancreas	Pancrea
9	chr12:66890800-66892200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:66891000-66892000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:66891200-66896600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:66891400-66893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:66891400-66893600	Weak transcription	HMEC	breast
14	chr12:66891600-66892000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:66891600-66892000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:66891600-66892000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:66891600-66892200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr12:66891600-66892200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr12:66891600-66892800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:66891600-66894800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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