Variant report

Variant	rs11182728
Chromosome Location	chr12:45265945-45265946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10506259	0.92[ASN][1000 genomes]
rs10880694	0.83[ASN][1000 genomes]
rs10880698	0.92[ASN][1000 genomes]
rs10880699	0.92[ASN][1000 genomes]
rs11182700	0.81[ASN][1000 genomes]
rs11182704	0.83[ASN][1000 genomes]
rs11182709	0.83[ASN][1000 genomes]
rs11182712	0.92[ASN][1000 genomes]
rs11182713	0.92[ASN][1000 genomes]
rs11182714	0.92[ASN][1000 genomes]
rs11182717	0.92[ASN][1000 genomes]
rs11182722	0.94[ASN][1000 genomes]
rs11182723	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11182724	0.94[ASN][1000 genomes]
rs11182725	0.94[ASN][1000 genomes]
rs11182726	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11182729	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182730	0.94[ASN][1000 genomes]
rs12227311	0.83[ASN][1000 genomes]
rs12228476	0.83[ASN][1000 genomes]
rs12580287	0.94[ASN][1000 genomes]
rs12581903	0.83[ASN][1000 genomes]
rs17095196	0.92[ASN][1000 genomes]
rs17095198	0.91[ASN][1000 genomes]
rs2658949	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2703049	0.94[ASN][1000 genomes]
rs2703052	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2703056	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2703057	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2710418	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs58724768	0.92[AMR][1000 genomes]
rs61438749	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs71459276	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:20 , 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	chr12:45258600-45267800	Weak transcription	Brain Germinal Matrix	brain
3	chr12:45259600-45266000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45260000-45268000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr12:45262000-45267800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr12:45263000-45269000	Active TSS	Fetal Brain Female	brain
7	chr12:45263400-45266400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:45264800-45266600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:45264800-45266800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:45264800-45271200	Active TSS	Fetal Brain Male	brain
11	chr12:45265200-45266400	Enhancers	Primary T cells from cord blood	blood
12	chr12:45265200-45266400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:45265200-45266600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:45265400-45266600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:45265600-45266200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:45265600-45266600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:45265600-45266800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:45265600-45268000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:45265800-45266000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:45265800-45266000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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