Variant report

Variant	rs12071595
Chromosome Location	chr1:171197411-171197412
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	MAFF	chr1:171197343-171197549	HepG2	liver:	n/a	chr1:171197471-171197489 chr1:171197495-171197513
2	NFYB	chr1:171197313-171197617	GM12878	blood:	n/a	n/a
3	CTCF	chr1:171197400-171197550	GM12872	blood:	n/a	n/a
4	NFYB	chr1:171197326-171197602	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225243	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10912525	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12064117	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12067810	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12072321	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12078869	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12082112	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12086788	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12087971	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12091865	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13353034	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16864136	0.85[EUR][1000 genomes]
rs16864165	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16864191	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16864245	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2020860	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2020865	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2205726	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28369826	0.90[EUR][1000 genomes]
rs28369834	0.90[EUR][1000 genomes]
rs28369837	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28369850	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28369868	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28369872	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28369883	0.90[EUR][1000 genomes]
rs28369886	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28969551	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs29001609	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56060753	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56159716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56233063	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57182460	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58324390	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58956470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59910498	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61225278	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61233777	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6668231	0.91[EUR][1000 genomes]
rs6673781	0.91[EUR][1000 genomes]
rs6684218	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6689616	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032526	0.91[EUR][1000 genomes]
rs74122287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7527107	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:171194200-171200400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:171196000-171199000	Weak transcription	Fetal Lung	lung

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