Variant report

Variant	rs2728971
Chromosome Location	chr3:22240684-22240685
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11709805	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11929229	0.92[ASN][1000 genomes]
rs1491889	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1609174	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609176	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2035849	0.92[ASN][1000 genomes]
rs2035850	0.92[ASN][1000 genomes]
rs2035853	0.88[EUR][1000 genomes]
rs2087721	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2638123	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638124	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2638133	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2695630	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2695632	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2728951	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2728975	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2728997	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2728998	0.91[EUR][1000 genomes]
rs2955644	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6550669	0.92[ASN][1000 genomes]
rs73048930	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003085	chr3:21887971-22415107	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv876616	chr3:21946847-22310622	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv876617	chr3:21955784-22310622	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv432404	chr3:22000296-22433396	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2757861	chr3:22077893-22256869	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2759134	chr3:22077893-22256869	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv428081	chr3:22077893-22256869	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv428415	chr3:22077893-22256869	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1010333	chr3:22085827-22356861	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv536519	chr3:22085827-22356861	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1009816	chr3:22111050-22256131	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1014295	chr3:22117633-22244943	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv589937	chr3:22207033-22255101	Enhancers Weak transcription ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1013562	chr3:22211580-22244794	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv589938	chr3:22231144-22372453	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:22240400-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr3:22240600-22241000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:22240600-22241200	Enhancers	Fetal Lung	lung

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