Variant report

Variant	rs2974505
Chromosome Location	chr5:114431917-114431918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114428971..114430505-chr5:114430585..114433156,2	MCF-7	breast:
2	chr5:114428977..114432180-chr5:114432442..114435284,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10055823	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10061081	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10061288	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10077885	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10078015	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10477526	0.82[ASN][1000 genomes]
rs11241305	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1446074	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1838747	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2121188	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2921618	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921625	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2921626	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2921629	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2974506	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2974507	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2974516	0.93[ASN][1000 genomes]
rs2974609	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2974610	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2974612	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4073838	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4073839	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4075509	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4075510	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4076057	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4131436	0.82[ASN][1000 genomes]
rs4131437	0.82[ASN][1000 genomes]
rs4235764	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4235765	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4235768	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4235769	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4235770	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4286654	0.82[ASN][1000 genomes]
rs4312873	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4360034	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4382158	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4392610	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4421095	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4435857	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4485921	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4485922	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4489055	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4554207	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705720	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6869551	0.80[ASN][1000 genomes]
rs6878888	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7722841	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs966791	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv830453	chr5:114277261-114546536	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114427000-114432000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:114428000-114434000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:114430600-114432600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:114430800-114433400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:114431000-114433200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:114431200-114432400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:114431200-114433200	Enhancers	HMEC	breast
8	chr5:114431400-114432400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:114431600-114432200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:114431600-114432400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:114431600-114432400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:114431600-114434000	Enhancers	Fetal Brain Male	brain
13	chr5:114431800-114432000	Enhancers	NHEK	skin
14	chr5:114431800-114432400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:114431800-114432400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:114431800-114433600	Enhancers	Fetal Brain Female	brain

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