Variant report

Variant	rs2220196
Chromosome Location	chr12:25284472-25284473
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:25283942..25285554-chr12:25289504..25292032,2	K562	blood:
2	chr12:25284083..25286578-chr6:21600707..21602481,2	MCF-7	breast:
3	chr12:25282337..25284646-chr12:25539223..25540773,2	K562	blood:

Variant related genes	Relation type
ENSG00000220771	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10505959	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10771166	1.00[CHB][hapmap]
rs10771169	0.80[ASN][1000 genomes]
rs10771171	0.90[ASN][1000 genomes]
rs10771174	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10771175	0.90[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771176	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10842464	1.00[CHB][hapmap]
rs10842467	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10842468	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10842470	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10842472	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10842476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842478	0.86[ASN][1000 genomes]
rs10842483	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842488	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10842490	0.89[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs10842491	0.82[ASN][1000 genomes]
rs10842493	0.87[AFR][1000 genomes]
rs10842495	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10842496	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs10842515	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs11047825	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11047843	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11047849	0.92[AFR][1000 genomes]
rs11047852	0.90[ASN][1000 genomes]
rs11047858	0.89[CHB][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11047862	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11047868	0.83[AFR][1000 genomes]
rs11047870	0.82[AFR][1000 genomes]
rs11047885	0.85[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs11047912	0.89[JPT][hapmap]
rs11834088	1.00[CHB][hapmap]
rs12227966	0.89[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12228638	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12367971	0.94[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1497253	0.89[CHB][hapmap]
rs17386824	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17388587	0.89[JPT][hapmap]
rs17389103	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs2883030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924650	0.87[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap]
rs4313666	0.90[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4368021	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs4589388	0.92[ASN][1000 genomes]
rs55950027	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57544299	0.80[EUR][1000 genomes]
rs6487458	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133904	0.80[ASN][1000 genomes]
rs7134616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7135130	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7298636	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7303373	0.90[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7303669	1.00[CHB][hapmap]
rs7308865	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7309124	0.80[AFR][1000 genomes]
rs7315339	0.89[JPT][hapmap]
rs7956818	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960428	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7960917	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7971062	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7971288	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7973365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7973450	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7973623	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs7975271	1.00[CHB][hapmap]
rs7976145	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7976254	1.00[CHB][hapmap]
rs7976355	0.87[AFR][1000 genomes]
rs7980769	0.89[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs9634100	1.00[YRI][hapmap];0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv557796	chr12:25266203-25306458	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25263800-25288800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:25284400-25284600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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