Variant report

Variant	rs28741369
Chromosome Location	chr1:171241228-171241229
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10399602	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10399952	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10798297	0.94[ASN][1000 genomes]
rs10912672	0.85[ASN][1000 genomes]
rs10912673	0.85[ASN][1000 genomes]
rs10912713	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912714	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10912723	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912736	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1126692	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11484641	0.85[ASN][1000 genomes]
rs11484642	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11487396	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12057955	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12058402	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059179	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12062692	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12068552	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070766	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12072043	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077231	1.00[ASN][1000 genomes]
rs12077755	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12079141	1.00[ASN][1000 genomes]
rs12080449	1.00[ASN][1000 genomes]
rs12081291	0.85[ASN][1000 genomes]
rs12091482	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12092985	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12094878	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141555	0.94[ASN][1000 genomes]
rs12354390	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12726624	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12729885	1.00[ASN][1000 genomes]
rs12730181	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12742008	1.00[ASN][1000 genomes]
rs12745080	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12747080	0.85[ASN][1000 genomes]
rs12757839	1.00[ASN][1000 genomes]
rs13376631	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864302	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864387	1.00[ASN][1000 genomes]
rs17581251	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2006986	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2076322	1.00[ASN][1000 genomes]
rs2092311	0.85[ASN][1000 genomes]
rs2284131	0.80[ASN][1000 genomes]
rs34118031	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34320519	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4607925	1.00[ASN][1000 genomes]
rs55949630	0.85[ASN][1000 genomes]
rs6670639	0.85[ASN][1000 genomes]
rs6674596	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs742350	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742351	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512853	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7519999	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7539057	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7541377	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv946500	chr1:171238904-171243923	Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171228800-171244400	Weak transcription	Fetal Kidney	kidney
2	chr1:171236400-171243400	Weak transcription	Small Intestine	intestine
3	chr1:171237600-171246800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:171237800-171255200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:171238600-171253600	Weak transcription	Ovary	ovary
6	chr1:171240600-171241400	ZNF genes & repeats	Fetal Intestine Large	intestine
7	chr1:171241000-171241600	Strong transcription	Fetal Intestine Small	intestine

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