Variant report

Variant	rs62243869
Chromosome Location	chr3:46104916-46104917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46100682..46102669-chr3:46103976..46105710,2	K562	blood:
2	chr3:46103249..46106082-chr3:46119956..46121890,2	K562	blood:
3	chr3:46104564..46106749-chr3:46109061..46111797,3	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10510747	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1118021	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12054287	0.86[EUR][1000 genomes]
rs12486449	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13434141	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1491960	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1546079	0.83[ASN][1000 genomes]
rs1602580	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1604068	0.98[ASN][1000 genomes]
rs17078567	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17078589	0.91[ASN][1000 genomes]
rs2036295	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2173639	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2888512	0.89[ASN][1000 genomes]
rs4339141	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4447807	0.86[EUR][1000 genomes]
rs4490402	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4586860	0.89[ASN][1000 genomes]
rs4682804	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4682805	0.90[ASN][1000 genomes]
rs4682807	0.90[ASN][1000 genomes]
rs4683169	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56800498	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58035200	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58260031	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59865404	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60539039	0.88[EUR][1000 genomes]
rs60991632	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61066315	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61254379	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61387489	0.89[ASN][1000 genomes]
rs62242832	0.86[EUR][1000 genomes]
rs62242846	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62243873	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62243875	0.87[EUR][1000 genomes]
rs62243876	0.87[EUR][1000 genomes]
rs62243906	0.83[EUR][1000 genomes]
rs6778958	0.89[ASN][1000 genomes]
rs6807854	0.86[EUR][1000 genomes]
rs751625	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7623476	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7641151	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7641164	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7643426	0.80[EUR][1000 genomes]
rs880160	0.89[ASN][1000 genomes]
rs9818635	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9849715	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9856805	0.90[ASN][1000 genomes]
rs9990060	0.91[ASN][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:36 , 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	chr3:46101600-46107000	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr3:46102200-46105200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:46102400-46105200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:46102600-46105600	Enhancers	Adipose Nuclei	Adipose
8	chr3:46102800-46105200	Enhancers	Aorta	Aorta
9	chr3:46103400-46105200	Enhancers	Left Ventricle	heart
10	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:46103600-46105000	Enhancers	Right Ventricle	heart
12	chr3:46103600-46105400	Enhancers	Ovary	ovary
13	chr3:46103600-46107000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:46103800-46105000	Enhancers	Psoas Muscle	Psoas
15	chr3:46103800-46105200	Enhancers	Fetal Heart	heart
16	chr3:46103800-46106000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr3:46103800-46106800	Enhancers	GM12878-XiMat	blood
18	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:46104000-46105000	Enhancers	Colon Smooth Muscle	Colon
21	chr3:46104000-46105000	Enhancers	Stomach Smooth Muscle	stomach
22	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr3:46104200-46105000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:46104200-46108400	Enhancers	Fetal Thymus	thymus
25	chr3:46104200-46110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:46104200-46110200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr3:46104200-46113600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:46104400-46105400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:46104400-46105800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:46104400-46106000	Weak transcription	Right Atrium	heart
31	chr3:46104400-46111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:46104600-46114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:46104800-46105000	Enhancers	Spleen	Spleen
34	chr3:46104800-46105200	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr3:46104800-46107000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr3:46104800-46109200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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