Variant report

Variant	rs4416593
Chromosome Location	chr5:150954886-150954887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10039591	0.83[ASN][1000 genomes]
rs10044120	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10054406	0.90[ASN][1000 genomes]
rs10060662	0.94[CHB][hapmap]
rs10069540	0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs10069901	0.90[ASN][1000 genomes]
rs10071034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072841	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10074454	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10079712	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085060	0.83[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs11746958	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11750312	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12055366	0.86[CHB][hapmap]
rs13158643	0.90[ASN][1000 genomes]
rs13166858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167092	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1432862	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs1432865	0.83[YRI][hapmap]
rs1432866	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1541909	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541910	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1835944	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2163769	0.90[ASN][1000 genomes]
rs2304053	0.83[CHB][hapmap]
rs2304054	0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs28449749	0.90[ASN][1000 genomes]
rs34335300	0.90[ASN][1000 genomes]
rs34346367	0.90[ASN][1000 genomes]
rs35211425	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35568803	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35908499	0.90[ASN][1000 genomes]
rs35957412	0.90[ASN][1000 genomes]
rs3734055	0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs3734057	0.89[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs3734058	0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs3734059	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs3734060	0.94[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs4314387	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320248	0.89[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs4376256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4416595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6859217	0.90[ASN][1000 genomes]
rs6878528	0.90[ASN][1000 genomes]
rs6878532	0.90[ASN][1000 genomes]
rs6878556	0.90[ASN][1000 genomes]
rs6878627	0.90[ASN][1000 genomes]
rs6879740	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6880902	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6883153	0.90[ASN][1000 genomes]
rs6883216	0.90[ASN][1000 genomes]
rs7709576	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7710596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7719117	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724472	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7726769	0.91[ASN][1000 genomes]
rs7727173	0.91[ASN][1000 genomes]
rs7730502	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7732813	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7737011	0.89[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737419	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9324698	0.90[ASN][1000 genomes]
rs9324699	0.89[ASN][1000 genomes]
rs9324700	0.94[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs9918229	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9918283	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20633	chr5:150941705-150955343	Strong transcription Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv600038	chr5:150950853-150955127	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1811399	chr5:150952122-150954941	Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv18629	chr5:150954478-150955343	Genic enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:150951200-150960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:150951400-150959600	Weak transcription	Placenta	Placenta
3	chr5:150951600-150955800	Weak transcription	Primary B cells from cord blood	blood
4	chr5:150951600-150956400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr5:150951600-150960400	Genic enhancers	NHEK	skin
6	chr5:150952000-150955800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:150952600-150957000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:150953400-150956000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:150953600-150955400	Genic enhancers	HMEC	breast
10	chr5:150953600-150955600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:150953600-150956800	Weak transcription	Fetal Thymus	thymus
12	chr5:150954000-150959600	Weak transcription	Esophagus	oesophagus

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