Variant report

Variant	rs407528
Chromosome Location	chr2:179035863-179035864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179031170..179033889-chr2:179035813..179038780,2	K562	blood:
2	chr2:179034919..179036538-chr2:179039354..179041839,2	K562	blood:
3	chr2:179034919..179037677-chr2:179039354..179042272,3	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10197166	0.94[JPT][hapmap]
rs10930823	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930827	0.81[JPT][hapmap]
rs12185670	0.83[JPT][hapmap]
rs12471750	0.92[ASN][1000 genomes]
rs12476671	0.80[JPT][hapmap]
rs13013858	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13403689	0.87[JPT][hapmap]
rs17638592	0.82[ASN][1000 genomes]
rs186736	0.80[JPT][hapmap]
rs232042	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2366157	0.93[JPT][hapmap]
rs2366365	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3099472	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs333992	0.81[JPT][hapmap]
rs333993	0.81[JPT][hapmap]
rs333995	0.80[JPT][hapmap]
rs333996	0.81[JPT][hapmap]
rs334002	0.87[JPT][hapmap]
rs334005	0.81[JPT][hapmap]
rs334007	0.81[JPT][hapmap]
rs334013	0.82[JPT][hapmap]
rs334014	0.87[JPT][hapmap]
rs334017	0.81[JPT][hapmap]
rs334035	0.94[JPT][hapmap]
rs334040	0.81[JPT][hapmap]
rs334042	0.81[JPT][hapmap]
rs334045	0.81[JPT][hapmap]
rs334079	0.81[ASN][1000 genomes]
rs334080	0.81[ASN][1000 genomes]
rs334081	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs334092	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs334094	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs334102	0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs334103	0.82[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334110	0.87[JPT][hapmap];0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs334115	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs334116	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs334117	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334122	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334125	0.89[ASN][1000 genomes]
rs334126	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs334128	0.82[ASN][1000 genomes]
rs334132	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs334133	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35480930	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs437385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs437523	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4894001	0.90[ASN][1000 genomes]
rs6719178	0.93[JPT][hapmap]
rs7419749	0.81[JPT][hapmap]
rs7581504	0.87[JPT][hapmap]
rs7589907	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591476	0.90[ASN][1000 genomes]
rs7595650	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs930191	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9989738	0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179032000-179038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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