Variant report

Variant	rs12030511
Chromosome Location	chr1:72108798-72108799
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10889922	0.83[ASN][1000 genomes]
rs11209805	1.00[ASW][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs11209818	0.85[CHB][hapmap]
rs11578097	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs11584866	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs11588321	1.00[CEU][hapmap]
rs12021864	0.92[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12023733	1.00[CEU][hapmap]
rs12024388	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap]
rs12030035	1.00[CEU][hapmap]
rs12031657	1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12031842	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12032545	0.95[ASN][1000 genomes]
rs12037107	1.00[CEU][hapmap]
rs12038728	0.92[CHB][hapmap];0.88[JPT][hapmap];0.95[ASN][1000 genomes]
rs12040327	1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap]
rs12041607	1.00[CEU][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12043796	1.00[CEU][hapmap]
rs12048869	1.00[CEU][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.90[TSI][hapmap]
rs12078969	1.00[CEU][hapmap]
rs12079835	0.85[CHB][hapmap];0.81[CHD][hapmap];0.83[ASN][1000 genomes]
rs1491198	0.81[GIH][hapmap]
rs1591382	0.92[CHB][hapmap]
rs17091704	1.00[CEU][hapmap];0.90[TSI][hapmap]
rs17091710	1.00[CEU][hapmap]
rs57388922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61516147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6424442	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6424448	0.81[GIH][hapmap]
rs6671557	1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[TSI][hapmap]
rs6679512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697370	1.00[CEU][hapmap]
rs6701156	1.00[CEU][hapmap]
rs72942265	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72942267	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72942302	0.92[AFR][1000 genomes]
rs72944111	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72944128	0.91[AMR][1000 genomes]
rs72944129	0.87[AMR][1000 genomes]
rs7528030	1.00[CEU][hapmap]
rs7531512	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949599	chr1:71655652-72327802	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1007250	chr1:71998391-72350683	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534992	chr1:71998391-72350683	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv461884	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv546476	chr1:72077549-72238691	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv461895	chr1:72079898-72206799	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv546477	chr1:72079898-72206799	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1006188	chr1:72081620-72215373	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv534993	chr1:72081620-72215373	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2763317	chr1:72099161-72121585	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1008210	chr1:72099161-72374197	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv871330	chr1:72104447-72140399	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72106400-72109000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:72107200-72108800	Enhancers	Fetal Thymus	thymus
3	chr1:72107800-72109000	Enhancers	Colon Smooth Muscle	Colon
4	chr1:72108400-72111800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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