Variant report

Variant	rs1450551
Chromosome Location	chr12:45157674-45157675
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10748401	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10748402	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785518	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10785520	1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10785521	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10785522	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785523	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785524	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785525	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785526	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785527	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10880665	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10880667	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880668	0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880669	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880670	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10880671	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10880672	0.84[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880674	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880675	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10880676	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1450540	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1711839	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2084614	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2408047	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2408048	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3858729	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768569	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs586188	0.81[EUR][1000 genomes]
rs590905	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs617006	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs632893	0.81[EUR][1000 genomes]
rs633526	0.81[EUR][1000 genomes]
rs641782	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs655191	0.82[EUR][1000 genomes]
rs6582514	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6582515	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs686110	0.91[AMR][1000 genomes];0.94[EUR][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	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	nsv1049080	chr12:45097564-45195295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45134400-45165200	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:45135400-45175000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:45145000-45172200	Weak transcription	Fetal Brain Female	brain
4	chr12:45145200-45169600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:45146800-45172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:45147400-45172200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:45151400-45163400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:45151800-45209200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:45153600-45185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:45155800-45165200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45156000-45159000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:45156000-45159000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:45156000-45173800	Weak transcription	Brain Germinal Matrix	brain
14	chr12:45156200-45157800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:45156200-45159000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:45156600-45158600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:45156600-45158600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:45157000-45205600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:45157200-45165200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:45157400-45158400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:45157400-45158400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:45157600-45158200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:45157600-45158400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:45157600-45164800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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