Variant report

Variant	rs2951754
Chromosome Location	chr12:11614777-11614778
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11054303	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11054304	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11054307	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11054313	0.82[EUR][1000 genomes]
rs11054315	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11054317	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11054318	0.85[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11054321	0.84[EUR][1000 genomes]
rs11054322	0.84[EUR][1000 genomes]
rs11054324	0.82[EUR][1000 genomes]
rs11054325	0.82[EUR][1000 genomes]
rs12810325	0.88[ASN][1000 genomes]
rs12821560	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12823695	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12828371	0.82[EUR][1000 genomes]
rs12831499	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16933735	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1882251	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921312	0.84[EUR][1000 genomes]
rs1921317	0.80[EUR][1000 genomes]
rs1921320	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1921321	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1921322	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178531	0.80[EUR][1000 genomes]
rs2416783	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28857193	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2951776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2965712	0.82[EUR][1000 genomes]
rs2965732	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2965739	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34350293	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35096794	0.80[EUR][1000 genomes]
rs35626247	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36086139	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763690	0.87[ASN][1000 genomes]
rs7132854	1.00[CHB][hapmap];0.81[MEX][hapmap]
rs72656641	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7342320	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv557572	chr12:11575570-11693121	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr12:11612600-11616000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr12:11612800-11614800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:11612800-11616000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr12:11613000-11614800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:11613000-11614800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr12:11613000-11614800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:11613000-11614800	Enhancers	HMEC	breast
8	chr12:11613000-11614800	Enhancers	NHEK	skin
9	chr12:11613000-11615200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:11613200-11614800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:11613200-11614800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:11613800-11614800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr12:11614000-11614800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:11614400-11614800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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