Variant report

Variant	rs10747599
Chromosome Location	chr12:51311166-51311167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51309761..51314195-chr12:51315452..51319050,4	K562	blood:
2	chr12:51309810..51312439-chr12:51323683..51325205,2	MCF-7	breast:
3	chr12:51310668..51312289-chr12:51316779..51318462,2	K562	blood:

Variant related genes	Relation type
ENSG00000185432	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10160844	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10459237	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10459238	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10459239	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10747595	0.82[ASN][1000 genomes]
rs10747596	0.80[ASN][1000 genomes]
rs10747597	0.88[ASN][1000 genomes]
rs10783393	0.86[ASN][1000 genomes]
rs10783394	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs10783395	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10783404	1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10783405	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[YRI][hapmap]
rs10783406	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10876099	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs10876100	1.00[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs10876105	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876115	0.93[ASN][1000 genomes]
rs10876119	0.95[ASN][1000 genomes]
rs1096030	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1096031	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1103441	1.00[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11169587	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11169588	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11169589	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs11169592	0.86[ASN][1000 genomes]
rs11169602	0.93[ASN][1000 genomes]
rs11169603	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11169608	0.93[ASN][1000 genomes]
rs11169609	0.93[ASN][1000 genomes]
rs11169610	0.94[ASN][1000 genomes]
rs11169612	0.94[ASN][1000 genomes]
rs11169614	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11495280	1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs11533636	0.93[ASN][1000 genomes]
rs12578465	0.93[ASN][1000 genomes]
rs12578466	0.93[ASN][1000 genomes]
rs12581103	0.88[ASN][1000 genomes]
rs1362964	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1583697	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs1631348	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs1642997	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643004	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs1659375	1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2554852	1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2554854	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2579077	0.96[CEU][hapmap]
rs3752667	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[ASN][1000 genomes]
rs4483656	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4542479	0.82[ASN][1000 genomes]
rs4768926	0.86[ASN][1000 genomes]
rs4768937	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768938	0.91[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4768939	0.88[ASN][1000 genomes]
rs7131969	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73100855	0.86[ASN][1000 genomes]
rs7979616	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs829120	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs829122	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs829126	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs829128	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829129	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829131	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs829132	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap]
rs829139	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829141	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829142	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs829143	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829144	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844175	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs860476	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51310200-51311200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
2	chr12:51310600-51311400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:51311000-51316000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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