Variant report

Variant	rs978316
Chromosome Location	chr3:46162801-46162802
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46149777..46152755-chr3:46160739..46163366,2	MCF-7	breast:
2	chr3:46162316..46164554-chr3:46164815..46166918,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10049103	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1078355	0.84[AMR][1000 genomes]
rs12107160	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107288	1.00[EUR][1000 genomes]
rs13325425	1.00[EUR][1000 genomes]
rs1352880	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491954	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1846618	1.00[EUR][1000 genomes]
rs1873615	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036294	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036296	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2088691	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393246	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454181	1.00[EUR][1000 genomes]
rs4630978	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682809	0.90[YRI][hapmap]
rs55743140	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56071453	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56738797	0.84[AMR][1000 genomes]
rs57375372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57590663	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57768435	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57800045	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57887195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58139750	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58402224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58969771	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59065510	1.00[EUR][1000 genomes]
rs59157393	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59676542	1.00[EUR][1000 genomes]
rs59754516	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60080146	0.84[AMR][1000 genomes]
rs61201782	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61276379	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61598729	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61686943	1.00[EUR][1000 genomes]
rs6788758	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6795629	0.89[YRI][hapmap]
rs6798934	0.91[ASW][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885402	0.84[AMR][1000 genomes]
rs72887108	0.84[AMR][1000 genomes]
rs72887131	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72887154	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889737	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889759	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891111	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891128	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891129	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72899100	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904134	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830713	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833519	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7427033	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814908	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9830945	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831926	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844424	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852295	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854654	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9859291	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9871934	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882976	1.00[EUR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46146800-46164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:46152600-46165200	Weak transcription	Spleen	Spleen
3	chr3:46156800-46168000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:46157200-46166600	Weak transcription	Psoas Muscle	Psoas
5	chr3:46157200-46168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:46158000-46163200	Weak transcription	Fetal Stomach	stomach
7	chr3:46159600-46165000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:46159600-46165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:46159600-46165000	Weak transcription	Adipose Nuclei	Adipose
10	chr3:46159800-46164400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:46159800-46165000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr3:46160200-46165000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr3:46161400-46169400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:46161600-46163600	Enhancers	Placenta	Placenta
15	chr3:46161800-46165000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:46162400-46163000	Enhancers	NHEK	skin
17	chr3:46162400-46163600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:46162400-46164400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:46162600-46163200	Enhancers	Hela-S3	cervix
20	chr3:46162800-46163200	Weak transcription	NHLF	lung
21	chr3:46162800-46164000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:46162800-46165200	Enhancers	Fetal Lung	lung
23	chr3:46162800-46165400	Weak transcription	NHDF-Ad	bronchial
24	chr3:46162800-46168800	Weak transcription	HMEC	breast

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