Variant report

Variant	rs2223085
Chromosome Location	chr3:60068269-60068270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs212010	0.89[ASN][1000 genomes]
rs2366953	1.00[ASN][1000 genomes]
rs2630165	1.00[ASN][1000 genomes]
rs2630182	1.00[ASN][1000 genomes]
rs2630195	1.00[ASN][1000 genomes]
rs2630205	1.00[ASN][1000 genomes]
rs2736763	1.00[ASN][1000 genomes]
rs2736776	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736820	1.00[ASN][1000 genomes]
rs34267930	0.89[ASN][1000 genomes]
rs4679629	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4679631	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446110	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67136973	0.89[ASN][1000 genomes]
rs6773600	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6782148	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789112	0.85[EUR][1000 genomes]
rs6797474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804216	0.89[ASN][1000 genomes]
rs9311748	0.89[ASN][1000 genomes]
rs969562	0.89[ASN][1000 genomes]
rs9833389	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs986651	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv834707	chr3:60005679-60184046	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2752010	chr3:60067396-60288428	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1009063	chr3:60067866-60277128	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1013919	chr3:60067866-60284882	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60061800-60068400	Flanking Active TSS	Dnd41	blood
2	chr3:60064600-60068400	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:60066800-60068600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr3:60067000-60068400	Enhancers	Thymus	Thymus
5	chr3:60067200-60072400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:60067400-60068600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:60067400-60070000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:60067400-60072800	Weak transcription	Stomach Mucosa	stomach
9	chr3:60067800-60068600	Enhancers	Primary B cells from cord blood	blood
10	chr3:60067800-60068600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:60067800-60068800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:60068000-60068600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr3:60068000-60068800	Enhancers	Primary T cells from cord blood	blood
14	chr3:60068000-60069600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:60068000-60072200	Weak transcription	Fetal Thymus	thymus
16	chr3:60068000-60072400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:60068200-60068800	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:60068200-60069200	Enhancers	Primary T helper cells PMA-I stimulated	--

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