Variant report

Variant	rs1991650
Chromosome Location	chr8:10706323-10706324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10695954..10697810-chr8:10705274..10708188,2	K562	blood:
2	chr8:10704113..10707157-chr8:10708528..10711302,3	K562	blood:

Variant related genes	Relation type
ENSG00000254093	Chromatin interaction
ENSG00000258724	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10046628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10089153	0.94[CHB][hapmap];0.87[CHD][hapmap];0.89[ASN][1000 genomes]
rs10091386	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs10093774	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs10098699	0.88[JPT][hapmap]
rs10099929	0.88[ASN][1000 genomes]
rs10109416	0.87[CHB][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs10109550	0.87[CHB][hapmap]
rs1055329	1.00[CEU][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11250081	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11250083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776674	0.92[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11776767	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs11986845	0.87[ASN][1000 genomes]
rs11986935	0.87[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs11996727	0.87[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs12541110	0.89[ASN][1000 genomes]
rs13254059	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13254592	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs13274017	0.85[ASN][1000 genomes]
rs1469556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1469557	0.83[CHD][hapmap]
rs1549796	0.91[ASN][1000 genomes]
rs17152576	0.85[ASN][1000 genomes]
rs1991649	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991651	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2271355	0.81[JPT][hapmap]
rs2271357	0.92[ASW][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.86[ASN][1000 genomes]
rs2277130	0.88[JPT][hapmap]
rs2278335	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[MEX][hapmap];0.98[TSI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292370	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2292371	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2409649	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2409650	0.91[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28613656	0.89[ASN][1000 genomes]
rs35091929	0.90[ASN][1000 genomes]
rs3808603	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs4840519	0.90[ASN][1000 genomes]
rs4841452	0.93[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs6601533	0.86[ASN][1000 genomes]
rs6601534	0.94[CHB][hapmap];0.90[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs6601535	0.89[ASN][1000 genomes]
rs6601536	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs66844016	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67211633	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6980805	0.88[JPT][hapmap]
rs6982769	0.87[ASN][1000 genomes]
rs6984388	0.87[ASN][1000 genomes]
rs6987200	0.87[ASN][1000 genomes]
rs6988598	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6989160	0.81[ASN][1000 genomes]
rs6989846	0.87[CHB][hapmap]
rs6990055	0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6990589	0.87[CHB][hapmap];0.90[CHD][hapmap]
rs6991499	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6991526	0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs6992366	0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6993121	0.92[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7000939	0.94[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7001887	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7004998	0.92[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.88[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7005531	0.81[CHB][hapmap]
rs7010680	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7010709	0.87[CHB][hapmap];0.96[CHD][hapmap]
rs7012206	0.91[ASN][1000 genomes]
rs7013032	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7818181	1.00[CHB][hapmap];0.90[CHD][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs7824384	0.87[CHB][hapmap]
rs7825100	0.84[ASN][1000 genomes]
rs7829089	0.94[CHB][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7829201	0.86[ASN][1000 genomes]
rs7830317	0.93[ASN][1000 genomes]
rs7830431	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs7833128	0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs7833945	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7840785	0.81[CHB][hapmap]
rs7846449	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1017836	chr8:10591801-10803617	Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1034988	chr8:10591801-10804243	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831232	chr8:10606053-10774948	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1031726	chr8:10627742-10749369	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv508497	chr8:10680621-10750255	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr8:10698000-10707800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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