Variant report

Variant	rs73053396
Chromosome Location	chr12:10453655-10453656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:10453629-10454180	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10453243..10455277-chr12:10460503..10462364,2	K562	blood:

Variant related genes	Relation type
KLRD1	TF binding region
ENSG00000134539	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10505754	0.92[EUR][1000 genomes]
rs10734822	0.92[EUR][1000 genomes]
rs10734823	0.92[EUR][1000 genomes]
rs10734824	0.92[EUR][1000 genomes]
rs10743876	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10743878	0.92[EUR][1000 genomes]
rs10743879	0.92[EUR][1000 genomes]
rs10743880	0.92[EUR][1000 genomes]
rs10772244	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10772246	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10845098	0.92[EUR][1000 genomes]
rs11053719	0.92[EUR][1000 genomes]
rs11834167	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11837211	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310669	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2045881	0.92[EUR][1000 genomes]
rs2417582	0.82[EUR][1000 genomes]
rs2417584	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2417585	0.92[EUR][1000 genomes]
rs2417586	0.92[EUR][1000 genomes]
rs2537782	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537800	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2537801	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2900385	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3932012	0.92[EUR][1000 genomes]
rs4267162	0.92[EUR][1000 genomes]
rs4372546	0.92[EUR][1000 genomes]
rs4483689	0.92[EUR][1000 genomes]
rs4764332	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4764333	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4764337	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4764359	0.92[EUR][1000 genomes]
rs55823125	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58510785	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59389382	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59511495	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59761822	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60221429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61308974	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61658032	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488277	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488279	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66996903	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137304	0.87[ASN][1000 genomes]
rs7302157	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7302532	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73053363	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73053368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73053387	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060081	0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73062005	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73068064	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73068080	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7314259	0.92[EUR][1000 genomes]
rs7315203	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7959312	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7959512	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7962426	0.92[EUR][1000 genomes]
rs7974717	0.92[EUR][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv605	chr12:10448638-10494208	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	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	chr12:10447400-10455000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr12:10447800-10456600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:10449600-10453800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:10453200-10454400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr12:10453200-10461000	Weak transcription	Placenta	Placenta
6	chr12:10453400-10454600	Enhancers	Thymus	Thymus
7	chr12:10453400-10457000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr12:10453600-10454200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:10453600-10454400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:10453600-10454400	Enhancers	Fetal Thymus	thymus
11	chr12:10453600-10454400	Enhancers	Dnd41	blood
12	chr12:10453600-10454600	Enhancers	Primary T cells from cord blood	blood

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