Variant report

Variant	rs2537782
Chromosome Location	chr12:10453915-10453916
allele	A/G
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	CEBPB	chr12:10453905-10454072	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr12:10453861-10454021	Hela-S3	cervix:	n/a	n/a
4	GATA3	chr12:10453693-10454176	SK-N-SH	brain:	n/a	n/a
5	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: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10505754	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs10734822	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10734823	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10734824	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs10743876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10743878	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10743879	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs10743880	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10772244	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10772246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10845098	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs10845099	0.82[GIH][hapmap]
rs11053719	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11539	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap]
rs11834167	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11837211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310669	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2045881	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2417582	0.82[EUR][1000 genomes]
rs2417584	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2417585	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2417586	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2537800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2537801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2900385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3932012	0.92[EUR][1000 genomes]
rs4254156	0.84[GIH][hapmap]
rs4267162	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4372546	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs4483689	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4764331	0.81[GIH][hapmap]
rs4764332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4764333	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4764337	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4764359	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs55823125	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58510785	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59389382	0.82[EUR][1000 genomes]
rs59511495	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59761822	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60221429	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61308974	0.92[EUR][1000 genomes]
rs61658032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.89[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6488279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66996903	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136409	0.87[GIH][hapmap]
rs7137304	0.87[ASN][1000 genomes]
rs7302157	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7302532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73053363	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73053368	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73053387	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73053396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060081	0.81[ASN][1000 genomes]
rs73062005	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73068064	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73068080	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]
rs765790	0.84[GIH][hapmap]
rs7959312	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7959512	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7960272	1.00[CEU][hapmap]
rs7962426	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7974717	1.00[CEU][hapmap];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	chr12:10453200-10454400	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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