Variant report

Variant	rs73050007
Chromosome Location	chr12:9210541-9210542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1012588	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10492115	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11611433	0.81[ASN][1000 genomes]
rs11613746	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615091	0.96[ASN][1000 genomes]
rs11615143	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615434	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16917971	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805665	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805680	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs226406	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs226407	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3026229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4882976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882978	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4882979	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4883213	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56256934	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56345025	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6487609	0.88[ASN][1000 genomes]
rs7302725	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73048097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050004	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73050013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73051904	0.88[ASN][1000 genomes]
rs74061406	0.96[ASN][1000 genomes]
rs7955497	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7965529	0.88[ASN][1000 genomes]
rs7967997	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898738	chr12:9205030-9274394	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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
4	nsv1048491	chr12:9208806-9544655	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9178400-9216400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:9199600-9216200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:9199800-9216200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:9199800-9216200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:9199800-9216600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:9200000-9216000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr12:9200000-9216200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:9200000-9216200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:9200000-9216200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:9202000-9216600	Weak transcription	Left Ventricle	heart
11	chr12:9202200-9216200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:9202200-9216200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:9202400-9216000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:9204200-9216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:9209600-9213400	Strong transcription	Primary T cells fromperipheralblood	blood

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