Variant report

Variant	rs10049103
Chromosome Location	chr3:46104082-46104083
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46100682..46102669-chr3:46103976..46105710,2	K562	blood:
2	chr3:46103249..46106082-chr3:46119956..46121890,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1078355	1.00[AMR][1000 genomes]
rs12107160	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107288	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13325425	1.00[EUR][1000 genomes]
rs1352880	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491954	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17078464	0.82[AMR][1000 genomes]
rs1846618	1.00[EUR][1000 genomes]
rs1873615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036294	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2088691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393246	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454181	1.00[EUR][1000 genomes]
rs4630978	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56071453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56239523	0.82[AMR][1000 genomes]
rs56738797	1.00[AMR][1000 genomes]
rs57228214	0.82[AMR][1000 genomes]
rs57375372	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57590663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57636813	0.84[AMR][1000 genomes]
rs57768435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57800045	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57887195	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58050797	0.82[AMR][1000 genomes]
rs58139750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58402224	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58442576	0.82[AMR][1000 genomes]
rs58460482	0.82[AMR][1000 genomes]
rs58491168	0.82[AMR][1000 genomes]
rs58969771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59065510	1.00[EUR][1000 genomes]
rs59157393	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59676542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59754516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60080146	1.00[AMR][1000 genomes]
rs61201782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61276379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61598729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61686943	1.00[EUR][1000 genomes]
rs6788758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791693	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6794222	1.00[EUR][1000 genomes]
rs6795629	0.81[YRI][hapmap]
rs6798934	0.86[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885402	1.00[AMR][1000 genomes]
rs72887108	1.00[AMR][1000 genomes]
rs72887131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72887154	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889737	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889749	0.84[AFR][1000 genomes]
rs72889759	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891111	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891128	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891129	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891712	0.82[AMR][1000 genomes]
rs72899100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904134	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7427033	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7627147	0.82[AMR][1000 genomes]
rs7638236	0.82[AMR][1000 genomes]
rs978316	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978317	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814908	0.86[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9830945	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831926	0.87[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844424	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854654	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9859291	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9871934	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882976	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46096400-46106200	Weak transcription	Lung	lung
2	chr3:46099000-46105400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46101000-46106400	Weak transcription	Primary B cells from cord blood	blood
4	chr3:46101200-46104200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:46101600-46107000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr3:46101800-46104200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:46102200-46105200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:46102400-46105200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:46102600-46105600	Enhancers	Adipose Nuclei	Adipose
10	chr3:46102800-46105200	Enhancers	Aorta	Aorta
11	chr3:46103400-46104200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:46103400-46105200	Enhancers	Left Ventricle	heart
13	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr3:46103600-46104400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:46103600-46104400	Enhancers	Right Atrium	heart
16	chr3:46103600-46104400	Enhancers	Spleen	Spleen
17	chr3:46103600-46105000	Enhancers	Right Ventricle	heart
18	chr3:46103600-46105400	Enhancers	Ovary	ovary
19	chr3:46103600-46107000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:46103800-46105000	Enhancers	Psoas Muscle	Psoas
21	chr3:46103800-46105200	Enhancers	Fetal Heart	heart
22	chr3:46103800-46106000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:46103800-46106800	Enhancers	GM12878-XiMat	blood
24	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr3:46104000-46104600	Enhancers	Brain Angular Gyrus	brain
27	chr3:46104000-46104800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr3:46104000-46105000	Enhancers	Colon Smooth Muscle	Colon
29	chr3:46104000-46105000	Enhancers	Stomach Smooth Muscle	stomach
30	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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