Variant report

Variant	rs4141136
Chromosome Location	chr12:68376527-68376528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr12:68376452-68376788	GM12878	blood:	n/a	n/a
2	RUNX3	chr12:68376393-68376849	GM12878	blood:	n/a	n/a
3	NFIC	chr12:68376457-68376961	GM12878	blood:	n/a	n/a
4	GATA3	chr12:68374665-68376549	SK-N-SH	brain:	n/a	chr12:68374904-68374920 chr12:68374908-68374917 chr12:68375660-68375668 chr12:68375936-68375943
5	FOXM1	chr12:68374707-68376563	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr12:68374718-68376577	SK-N-SH	brain:	n/a	chr12:68374979-68374986
7	TCF12	chr12:68373952-68376612	SK-N-SH	brain:	n/a	chr12:68374979-68374986

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68371732..68373949-chr12:68374658..68377015,2	K562	blood:

Variant related genes	Relation type
ENSG00000256835	TF binding region
ENSG00000256835	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10748092	0.92[ASN][1000 genomes]
rs10784660	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784661	0.91[ASN][1000 genomes]
rs10784662	0.91[ASN][1000 genomes]
rs10784663	0.83[AFR][1000 genomes]
rs10784664	1.00[ASN][1000 genomes]
rs10878705	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10878708	0.91[ASN][1000 genomes]
rs10878709	0.91[ASN][1000 genomes]
rs10878710	0.91[ASN][1000 genomes]
rs10878711	0.92[ASN][1000 genomes]
rs10878717	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878722	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11176970	0.91[ASN][1000 genomes]
rs11176971	0.91[ASN][1000 genomes]
rs11176976	0.92[ASN][1000 genomes]
rs11176977	0.92[ASN][1000 genomes]
rs12228138	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1548650	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548651	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1548652	0.92[ASN][1000 genomes]
rs1548653	0.92[ASN][1000 genomes]
rs1860007	0.92[ASN][1000 genomes]
rs1905452	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2097999	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2190735	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2839995	0.92[ASN][1000 genomes]
rs2870964	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4913386	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6581784	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7310108	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312407	0.81[AFR][1000 genomes]
rs7954182	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7959275	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7962230	0.92[ASN][1000 genomes]
rs7965959	0.91[ASN][1000 genomes]
rs7979547	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr12:68376200-68376600	Enhancers	NHDF-Ad	bronchial
2	chr12:68376200-68377000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:68376200-68377000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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