Variant report

Variant	rs12701227
Chromosome Location	chr7:3893318-3893319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3885725..3887398-chr7:3891256..3893555,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085400	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10085568	0.89[ASN][1000 genomes]
rs10246449	0.89[ASN][1000 genomes]
rs10252169	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10256741	0.89[ASN][1000 genomes]
rs10479833	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10479834	0.95[ASN][1000 genomes]
rs10480105	0.95[ASN][1000 genomes]
rs10951315	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10951322	0.88[ASN][1000 genomes]
rs10951336	0.95[ASN][1000 genomes]
rs11976915	0.96[ASN][1000 genomes]
rs11977993	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12112335	0.83[ASN][1000 genomes]
rs12531980	0.81[ASN][1000 genomes]
rs12532040	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12532903	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12532912	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12536445	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12536663	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12537696	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12538997	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12540101	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12540220	0.86[ASN][1000 genomes]
rs12701219	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12701221	0.96[ASN][1000 genomes]
rs12701229	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13221624	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13236653	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13236719	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1548612	0.95[ASN][1000 genomes]
rs1962783	0.86[ASN][1000 genomes]
rs2079378	0.83[ASN][1000 genomes]
rs2097900	0.95[ASN][1000 genomes]
rs2341959	0.93[ASN][1000 genomes]
rs2880204	0.95[ASN][1000 genomes]
rs34614163	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34960833	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35261333	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35712888	0.93[ASN][1000 genomes]
rs41873	0.93[ASN][1000 genomes]
rs6462361	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67665990	0.84[ASN][1000 genomes]
rs6944479	0.88[ASN][1000 genomes]
rs6945778	0.85[ASN][1000 genomes]
rs6948552	0.89[ASN][1000 genomes]
rs6953036	0.95[ASN][1000 genomes]
rs6953604	0.93[ASN][1000 genomes]
rs6957166	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6957676	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6959835	0.84[ASN][1000 genomes]
rs6961230	0.86[ASN][1000 genomes]
rs6966030	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6969052	0.87[ASN][1000 genomes]
rs6969235	0.85[ASN][1000 genomes]
rs6973944	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6975313	0.85[ASN][1000 genomes]
rs6975723	0.81[ASN][1000 genomes]
rs6978964	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6979937	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6980085	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7778705	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7788747	0.85[ASN][1000 genomes]
rs7794504	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7806494	0.95[ASN][1000 genomes]
rs7807003	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7811839	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7811894	0.80[ASN][1000 genomes]
rs917198	0.91[ASN][1000 genomes]
rs985186	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1027624	chr7:3808366-3923408	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv538684	chr7:3808366-3923408	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv887336	chr7:3870810-3934909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887337	chr7:3886254-3934909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3882200-3894400	Weak transcription	Aorta	Aorta
2	chr7:3886600-3894600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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