Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:151456003..151457995-chr1:151478546..151480348,2	MCF-7	breast:
2	chr1:151455325..151461982-chr1:151483284..151488715,8	MCF-7	breast:
3	chr1:151449344..151451295-chr1:151455927..151458294,3	MCF-7	breast:
4	chr1:151429324..151435263-chr1:151450635..151458530,13	MCF-7	breast:
5	chr1:151429725..151432768-chr1:151453172..151456810,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143375	Chromatin interaction
ENSG00000143442	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10127622	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10788807	1.00[JPT][hapmap]
rs10888416	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10888419	1.00[JPT][hapmap]
rs11204828	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204838	0.91[JPT][hapmap]
rs11590129	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11801161	0.84[JPT][hapmap]
rs1547832	1.00[JPT][hapmap]
rs1573129	0.82[JPT][hapmap]
rs1573130	0.91[JPT][hapmap]
rs2211435	1.00[JPT][hapmap]
rs2298167	0.91[JPT][hapmap]
rs2298168	0.91[JPT][hapmap]
rs2337359	0.91[JPT][hapmap]
rs2337364	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2878950	0.84[JPT][hapmap]
rs35562327	0.89[ASN][1000 genomes]
rs4970954	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4970955	0.92[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7355117	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7552458	0.82[JPT][hapmap]

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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11204827	SPRR2B	cis	parietal	SCAN
rs11204827	SCNM1	cis	cerebellum	SCAN
rs11204827	OTUD7B	cis	cerebellum	SCAN
rs11204827	SELENBP1	cis	Thyroid	GTEx
rs11204827	SPRR2B	cis	cerebellum	SCAN
rs11204827	S100A4	cis	cerebellum	SCAN
rs11204827	POGZ	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151456000-151456600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr1:151456400-151456800	Enhancers	Fetal Muscle Leg	muscle

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