Variant report

Variant	rs11972468
Chromosome Location	chr7:39161021-39161022
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39155263..39157100-chr7:39158946..39161624,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10229456	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs10234092	0.81[CHD][hapmap]
rs10244776	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10252129	0.82[CHD][hapmap]
rs10951595	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs10951596	0.94[ASN][1000 genomes]
rs10951597	0.82[CHD][hapmap]
rs11767080	0.93[CHB][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs11773046	0.82[CHD][hapmap]
rs12531437	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs12531464	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs12534084	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs12536501	0.91[CEU][hapmap]
rs12701695	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12701698	0.93[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs12701699	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1525793	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs1525800	0.93[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap]
rs17511572	0.82[CHD][hapmap]
rs2091323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2280668	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2392619	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28459466	1.00[CEU][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap]
rs3924710	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs4279508	0.95[CEU][hapmap]
rs4401749	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs4472423	0.90[CEU][hapmap]
rs4473925	0.95[CEU][hapmap]
rs4720315	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs4723827	0.93[CHB][hapmap];0.90[JPT][hapmap]
rs6462894	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs6462895	1.00[CEU][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap]
rs6955619	0.94[CEU][hapmap]
rs6956307	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6979829	0.99[ASN][1000 genomes]
rs7784092	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs7787466	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs7802746	0.91[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap]
rs9639811	0.93[CHB][hapmap];0.91[JPT][hapmap]

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	nsv1024142	chr7:38978728-39300444	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv887968	chr7:39123165-39198960	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv830968	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv428163	chr7:39127531-39283543	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39153200-39165800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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