Variant report

Variant	rs4683174
Chromosome Location	chr3:46105441-46105442
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	chr3:46096990..46098944-chr3:46105207..46107426,2	K562	blood:
4	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]
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]
rs62243869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46096400-46106200	Weak transcription	Lung	lung
2	chr3:46101000-46106400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:46101600-46107000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr3:46102600-46105600	Enhancers	Adipose Nuclei	Adipose
5	chr3:46103400-46113600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr3:46103600-46107000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr3:46103800-46106000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:46103800-46106800	Enhancers	GM12878-XiMat	blood
9	chr3:46103800-46113200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:46103800-46114200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr3:46104000-46113400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:46104200-46108400	Enhancers	Fetal Thymus	thymus
13	chr3:46104200-46110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:46104200-46110200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr3:46104200-46113600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:46104400-46105800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:46104400-46106000	Weak transcription	Right Atrium	heart
18	chr3:46104400-46111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:46104600-46114000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:46104800-46107000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr3:46104800-46109200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr3:46105000-46106200	Weak transcription	Right Ventricle	heart
23	chr3:46105000-46106600	Enhancers	Primary T cells from cord blood	blood
24	chr3:46105000-46107000	Weak transcription	Psoas Muscle	Psoas
25	chr3:46105000-46108600	Weak transcription	Spleen	Spleen
26	chr3:46105000-46109800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:46105200-46105600	Weak transcription	Fetal Heart	heart
28	chr3:46105200-46106000	Weak transcription	Esophagus	oesophagus
29	chr3:46105200-46106800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:46105200-46107000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:46105200-46107000	Weak transcription	Left Ventricle	heart
32	chr3:46105200-46108600	Weak transcription	Aorta	Aorta
33	chr3:46105200-46111000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr3:46105400-46106000	Weak transcription	Ovary	ovary
35	chr3:46105400-46111000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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