Variant report

Variant	rs2107465
Chromosome Location	chr8:91001024-91001025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90999290..91002068-chr8:91002362..91003933,2	MCF-7	breast:
2	chr8:90998510..91002003-chr8:91006940..91009288,3	MCF-7	breast:
3	chr8:90999485..91002271-chr8:91003873..91006059,2	MCF-7	breast:

Extended variants
information (count: 127 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10092098	0.90[CEU][hapmap];0.80[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10104321	0.90[CEU][hapmap];0.95[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1011682	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs1011683	0.86[CEU][hapmap];0.83[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs1061302	0.90[CEU][hapmap];0.82[CHD][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs1063045	0.90[CEU][hapmap];0.84[CHD][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs1063053	0.85[JPT][hapmap]
rs1063054	0.90[JPT][hapmap]
rs10755930	0.84[ASN][1000 genomes]
rs10956375	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs10956431	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778638	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11782032	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11784904	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12549107	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12550313	0.87[EUR][1000 genomes]
rs12677527	0.88[EUR][1000 genomes]
rs12679577	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12680903	0.86[EUR][1000 genomes]
rs13264478	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13265193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13275276	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs13278453	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs13312842	0.87[EUR][1000 genomes]
rs13312935	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs1800645	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1805786	0.87[EUR][1000 genomes]
rs1805790	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs1805791	0.86[EUR][1000 genomes]
rs1805792	0.85[EUR][1000 genomes]
rs1805794	0.90[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs1805795	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs1805797	0.90[CEU][hapmap];0.84[CHD][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs1805799	0.90[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs1805800	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs1805803	0.87[EUR][1000 genomes]
rs1805804	0.88[EUR][1000 genomes]
rs1805808	0.86[CEU][hapmap];0.81[TSI][hapmap]
rs1805817	0.87[EUR][1000 genomes]
rs1805818	0.90[CEU][hapmap];0.84[CHD][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs1805844	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs1805865	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1805870	0.90[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1805876	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1805877	0.85[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1881467	0.90[JPT][hapmap]
rs1881468	0.90[JPT][hapmap]
rs2021881	0.90[JPT][hapmap]
rs2021882	0.90[JPT][hapmap]
rs2072656	0.80[EUR][1000 genomes]
rs2073635	0.90[CEU][hapmap];0.82[CHD][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs2074593	0.81[EUR][1000 genomes]
rs2074596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2091887	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2097825	0.86[CEU][hapmap]
rs2142093	0.80[CEU][hapmap]
rs2142094	0.80[CEU][hapmap]
rs2142097	0.90[JPT][hapmap]
rs2234744	0.90[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs2246022	0.90[JPT][hapmap]
rs2267543	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2280780	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs2293774	0.87[EUR][1000 genomes]
rs2308962	0.90[CEU][hapmap];0.82[CHD][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.87[EUR][1000 genomes]
rs2339025	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs2697676	0.90[JPT][hapmap]
rs2735383	0.90[JPT][hapmap]
rs2735384	0.86[JPT][hapmap]
rs2735385	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2735386	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2735387	0.85[JPT][hapmap]
rs2735388	0.85[JPT][hapmap]
rs3026265	0.87[EUR][1000 genomes]
rs3026276	0.88[EUR][1000 genomes]
rs34394839	0.80[EUR][1000 genomes]
rs35696408	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3736639	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs4961166	0.90[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs4961167	0.81[EUR][1000 genomes]
rs58579435	0.83[EUR][1000 genomes]
rs61427172	0.88[EUR][1000 genomes]
rs6470523	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs6470524	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6470668	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6470671	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6470713	0.90[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes]
rs67277238	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6985793	0.82[MEX][hapmap]
rs6987873	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs6988013	0.85[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap]
rs6990969	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs6991811	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs6993054	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs6994202	0.90[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6999227	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7006322	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs7011299	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs7012846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7018118	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs71528733	0.88[EUR][1000 genomes]
rs71528739	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72671845	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs741777	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs741778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7459577	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7459846	0.80[CEU][hapmap]
rs7461859	0.90[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7463278	0.90[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7463645	0.85[EUR][1000 genomes]
rs7463923	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7815279	0.90[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7816839	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821408	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7822272	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs7822950	0.81[EUR][1000 genomes]
rs7829246	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs7832009	0.85[EUR][1000 genomes]
rs926092	0.90[CEU][hapmap];0.84[CHD][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs9649958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650096	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9650098	0.87[EUR][1000 genomes]
rs9792335	0.90[CEU][hapmap];0.85[EUR][1000 genomes]
rs9995	0.90[JPT][hapmap]

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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv891183	chr8:90975550-91111193	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	esv2758164	chr8:91000786-91329669	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2759628	chr8:91000786-91329669	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2107465	NBN	Cis_1M	lymphoblastoid	RTeQTL
rs2107465	CALB1	cis	cerebellum	SCAN
rs2107465	DECR1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90997000-91004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:90997200-91005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:90997600-91005200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90999600-91004600	Weak transcription	NHEK	skin
5	chr8:90999800-91004800	Weak transcription	HMEC	breast
6	chr8:90999800-91005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:91000000-91012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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