Variant report

Variant	rs6433896
Chromosome Location	chr2:182023555-182023556
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11904405	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198619	1.00[ASN][1000 genomes]
rs4583420	1.00[ASN][1000 genomes]
rs62178847	1.00[ASN][1000 genomes]
rs62178848	1.00[ASN][1000 genomes]
rs62178851	1.00[ASN][1000 genomes]
rs62178852	1.00[ASN][1000 genomes]
rs62178855	1.00[ASN][1000 genomes]
rs62178859	1.00[ASN][1000 genomes]
rs62180161	1.00[ASN][1000 genomes]
rs62180162	1.00[ASN][1000 genomes]
rs62180166	1.00[EUR][1000 genomes]
rs62180167	1.00[ASN][1000 genomes]
rs62180168	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180169	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62180174	1.00[ASN][1000 genomes]
rs62180176	1.00[ASN][1000 genomes]
rs62180186	1.00[ASN][1000 genomes]
rs62180188	1.00[ASN][1000 genomes]
rs62180190	1.00[ASN][1000 genomes]
rs62180194	1.00[ASN][1000 genomes]
rs62180197	1.00[ASN][1000 genomes]
rs62180198	1.00[ASN][1000 genomes]
rs62180200	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719497	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738120	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6758061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73976816	0.94[EUR][1000 genomes]
rs7577144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606704	1.00[ASN][1000 genomes]
rs9679289	1.00[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	nsv431824	chr2:181946115-182118559	ZNF genes & repeats Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv459954	chr2:181975252-182040293	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583910	chr2:181975252-182040293	ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6433896	SESTD1	cis	parietal	SCAN
rs6433896	CWC22	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182014400-182027600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr2:182021200-182026000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:182021200-182026200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:182021200-182027600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:182021200-182027600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:182021200-182030000	Weak transcription	Thymus	Thymus
7	chr2:182021400-182026600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:182021800-182025600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:182021800-182027400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr2:182021800-182027800	Weak transcription	Dnd41	blood
11	chr2:182022000-182027000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:182022000-182027800	Weak transcription	Fetal Thymus	thymus

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