Variant report

Variant	rs2299833
Chromosome Location	chr12:4739349-4739350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1008578	0.90[EUR][1000 genomes]
rs10744653	0.83[EUR][1000 genomes]
rs10744654	0.83[EUR][1000 genomes]
rs10774245	0.90[EUR][1000 genomes]
rs11063280	0.86[ASN][1000 genomes]
rs11063282	0.86[ASN][1000 genomes]
rs11063285	0.83[ASN][1000 genomes]
rs12303320	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12308883	0.86[ASN][1000 genomes]
rs12309713	0.80[ASN][1000 genomes]
rs12310639	0.96[ASN][1000 genomes]
rs12313377	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12318966	0.85[ASN][1000 genomes]
rs12811453	0.86[ASN][1000 genomes]
rs12828416	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12829711	0.93[ASN][1000 genomes]
rs16931616	0.85[ASN][1000 genomes]
rs16931620	0.85[ASN][1000 genomes]
rs1860343	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1860344	0.88[EUR][1000 genomes]
rs1974602	0.89[EUR][1000 genomes]
rs1990311	0.85[ASN][1000 genomes]
rs2267548	0.83[ASN][1000 genomes]
rs2286576	0.81[EUR][1000 genomes]
rs2302246	0.86[ASN][1000 genomes]
rs2302248	0.83[EUR][1000 genomes]
rs2884671	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35131771	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35167443	0.86[ASN][1000 genomes]
rs4147671	0.86[ASN][1000 genomes]
rs4147672	0.86[ASN][1000 genomes]
rs4147673	0.86[ASN][1000 genomes]
rs4147677	0.85[ASN][1000 genomes]
rs4147678	0.85[ASN][1000 genomes]
rs4147679	0.85[ASN][1000 genomes]
rs4147680	0.85[ASN][1000 genomes]
rs4147682	0.82[ASN][1000 genomes]
rs4147684	0.85[ASN][1000 genomes]
rs4147685	0.85[ASN][1000 genomes]
rs4766264	0.96[ASN][1000 genomes]
rs4766267	0.94[ASN][1000 genomes]
rs4766269	0.85[ASN][1000 genomes]
rs61909965	0.85[ASN][1000 genomes]
rs7136668	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720673	0.85[EUR][1000 genomes]
rs7300543	0.83[EUR][1000 genomes]
rs730065	0.83[EUR][1000 genomes]
rs7305150	0.90[EUR][1000 genomes]
rs7312402	0.87[ASN][1000 genomes]
rs7958182	0.85[ASN][1000 genomes]
rs7972657	0.85[ASN][1000 genomes]
rs7972737	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972920	0.85[ASN][1000 genomes]
rs7975484	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7977981	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs876586	0.94[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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468986	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv557124	chr12:4726068-4751798	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4724200-4756800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr12:4725400-4752200	Weak transcription	Brain Hippocampus Middle	brain
3	chr12:4737600-4757400	Weak transcription	Pancreas	Pancrea
4	chr12:4737800-4742200	Weak transcription	Left Ventricle	heart
5	chr12:4737800-4757200	Weak transcription	Brain Anterior Caudate	brain
6	chr12:4738800-4741600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:4739000-4739400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:4739200-4740000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr12:4739200-4740000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr12:4739200-4740000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr12:4739200-4740000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:4739200-4741600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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