Variant report

Variant	rs61308974
Chromosome Location	chr12:10453848-10453849
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	EP300	chr12:10453764-10453935	Hela-S3	cervix:	n/a	n/a
2	GATA3	chr12:10453693-10454176	SK-N-SH	brain:	n/a	n/a
3	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: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10505754	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10734822	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10734823	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10734824	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743878	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743879	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743880	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10845093	0.91[ASN][1000 genomes]
rs10845094	0.87[ASN][1000 genomes]
rs10845098	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11053719	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11834167	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11837211	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12310669	0.92[EUR][1000 genomes]
rs2045878	0.93[ASN][1000 genomes]
rs2045881	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2417585	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2417586	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2537782	0.92[EUR][1000 genomes]
rs2537800	0.92[EUR][1000 genomes]
rs2537801	0.92[EUR][1000 genomes]
rs3932012	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4267162	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4372546	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4483689	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4764342	0.86[ASN][1000 genomes]
rs4764359	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55823125	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58510785	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59389382	0.82[AMR][1000 genomes]
rs59511495	0.82[AMR][1000 genomes]
rs60221429	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61658032	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6488277	0.92[EUR][1000 genomes]
rs6488278	0.92[ASN][1000 genomes]
rs6488279	0.92[EUR][1000 genomes]
rs66996903	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73053363	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73053368	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73053387	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73053396	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73060081	0.82[AMR][1000 genomes]
rs73062005	0.82[AMR][1000 genomes]
rs73068064	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73068080	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7314259	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959312	0.92[EUR][1000 genomes]
rs7959512	0.92[EUR][1000 genomes]
rs7962426	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7974717	0.84[EUR][1000 genomes];0.94[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	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	chr12:10453200-10454400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:10453200-10461000	Weak transcription	Placenta	Placenta
5	chr12:10453400-10454600	Enhancers	Thymus	Thymus
6	chr12:10453400-10457000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr12:10453600-10454200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr12:10453600-10454400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:10453600-10454400	Enhancers	Fetal Thymus	thymus
10	chr12:10453600-10454400	Enhancers	Dnd41	blood
11	chr12:10453600-10454600	Enhancers	Primary T cells from cord blood	blood
12	chr12:10453800-10457200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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