Variant report

Variant	rs2703052
Chromosome Location	chr12:45263942-45263943
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10506259	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10880698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182700	0.87[ASN][1000 genomes]
rs11182704	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11182709	0.89[ASN][1000 genomes]
rs11182712	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182717	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182723	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182724	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182726	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182728	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11182729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182730	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11182795	1.00[GIH][hapmap]
rs11182796	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11182798	1.00[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs11182806	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11182807	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11182809	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs11534985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12227311	0.89[ASN][1000 genomes]
rs12227622	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs12228073	1.00[CHB][hapmap]
rs12228476	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12580287	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581903	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17095196	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17095198	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095247	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap]
rs2272518	0.83[AFR][1000 genomes]
rs2658949	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658950	0.93[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes]
rs2658976	0.82[ASW][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];0.83[MKK][hapmap]
rs2703049	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703056	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2703057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2703059	0.86[MKK][hapmap]
rs2710418	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2710421	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2710424	0.84[ASW][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes]
rs447760	0.87[CHB][hapmap]
rs59646766	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61438749	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71459276	0.97[ASN][1000 genomes]
rs7295338	0.94[CHB][hapmap]
rs7315817	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7968450	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
4	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45257000-45266800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:45257400-45265200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr12:45258600-45265600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:45258600-45267800	Weak transcription	Brain Germinal Matrix	brain
5	chr12:45259600-45266000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45260000-45268000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:45260400-45264000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:45261200-45264800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:45261200-45265400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:45262000-45267800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:45262600-45264000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:45263000-45264000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:45263000-45269000	Active TSS	Fetal Brain Female	brain
14	chr12:45263200-45264000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:45263400-45266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:45263600-45264800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:45263600-45265400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:45263800-45264000	Enhancers	Fetal Brain Male	brain

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