Variant report

Variant	rs73119096
Chromosome Location	chr1:222594131-222594132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11485175	0.91[ASN][1000 genomes]
rs17163094	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17163107	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17163124	0.86[AMR][1000 genomes]
rs17163130	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17163138	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17508365	0.96[ASN][1000 genomes]
rs1906272	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637266	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34460044	0.93[ASN][1000 genomes]
rs34513293	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34930055	0.93[ASN][1000 genomes]
rs4846366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846368	0.84[AMR][1000 genomes]
rs4846749	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73119071	0.93[AFR][1000 genomes]
rs73119083	0.98[AFR][1000 genomes]
rs73119086	0.96[AFR][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:22 , 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	chr1:222592800-222594800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:222593400-222594400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:222593400-222595600	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:222593600-222594400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:222593600-222594600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:222593600-222594600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr1:222593600-222594600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr1:222593600-222594800	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr1:222593600-222594800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:222593600-222595200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:222593800-222594200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:222593800-222594200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:222593800-222594200	Enhancers	Thymus	Thymus
16	chr1:222593800-222594400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr1:222593800-222594400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr1:222593800-222594600	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:222593800-222594600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:222593800-222595600	Enhancers	Fetal Thymus	thymus
21	chr1:222594000-222594200	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:222594000-222594400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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