Variant report

Variant	rs17181148
Chromosome Location	chr12:66891488-66891489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11610989	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11611434	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11613182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11613274	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11614590	0.86[ASN][1000 genomes]
rs17102626	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17181267	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17779025	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56196817	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56201070	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59554221	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61159832	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61925945	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61925951	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61925952	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61925953	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61925954	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61926060	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61928462	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61928464	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61928465	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61928466	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61928467	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73321276	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7958769	0.83[ASN][1000 genomes]
rs7971370	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7974552	0.86[ASN][1000 genomes]
rs7978982	0.90[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	chr12:66890800-66891600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr12:66890800-66891600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr12:66890800-66891600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:66890800-66892200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:66891000-66891600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:66891000-66892000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:66891200-66891600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr12:66891200-66891600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
17	chr12:66891200-66891600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr12:66891200-66896600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:66891400-66893400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:66891400-66893600	Weak transcription	HMEC	breast

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