Variant report

Variant	rs73027445
Chromosome Location	chr2:182007612-182007613
allele	C/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:31)

rs_ID	r²[population]
rs56977169	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59260686	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62180166	0.96[ASN][1000 genomes]
rs73025698	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027403	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027409	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027412	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73027417	1.00[ASN][1000 genomes]
rs73027429	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73027433	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027441	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027455	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027457	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027466	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027468	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027474	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027482	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73027499	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73027502	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73029106	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73029172	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73029178	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73029179	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73029181	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73029183	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs73029186	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73029188	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73976816	0.96[ASN][1000 genomes]
rs997716	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181999600-182022000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:182003400-182009200	Enhancers	Dnd41	blood
3	chr2:182004800-182008800	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr2:182005800-182009200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:182006800-182008000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:182006800-182008400	Weak transcription	Fetal Thymus	thymus
7	chr2:182006800-182008600	Weak transcription	Thymus	Thymus
8	chr2:182007400-182007800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr2:182007600-182007800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr2:182007600-182007800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:182007600-182008000	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:182007600-182008400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr2:182007600-182008600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr2:182007600-182009200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:182007600-182009600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr2:182007600-182010000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr2:182007600-182010000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:182007600-182010000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr2:182007600-182010200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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