Variant report

Variant	rs1386580
Chromosome Location	chr1:222595561-222595562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11581653	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11589561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11591051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17461834	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17462264	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17508365	0.92[EUR][1000 genomes]
rs1906271	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34460044	0.91[EUR][1000 genomes]
rs34930055	0.92[EUR][1000 genomes]
rs35052617	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35061493	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35077442	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35763770	0.89[EUR][1000 genomes]
rs35784999	1.00[ASN][1000 genomes]
rs35844598	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4436398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4573528	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs67867153	0.83[ASN][1000 genomes]
rs72734175	1.00[ASN][1000 genomes]
rs72734194	1.00[ASN][1000 genomes]
rs72734197	1.00[ASN][1000 genomes]
rs72734202	1.00[ASN][1000 genomes]
rs765233	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765308	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv873204	chr1:222484745-222611210	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222589600-222596000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr1:222592600-222596400	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:222593400-222595600	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:222593800-222595600	Enhancers	Fetal Thymus	thymus
5	chr1:222594200-222596800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:222594400-222596000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:222594400-222596000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:222594400-222598000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr1:222594600-222596000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr1:222594600-222596200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:222594600-222596400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:222594600-222596600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:222594800-222595600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:222594800-222595800	Enhancers	Primary T cells from cord blood	blood
15	chr1:222595200-222595600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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