Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:222614329..222618263-chr1:222619807..222624230,5	K562	blood:
2	chr1:222612194..222615786-chr1:222616053..222619772,4	K562	blood:
3	chr1:222616473..222618308-chr1:222626694..222629120,2	K562	blood:

Variant related genes	Relation type
ENSG00000226643	Chromatin interaction

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11581653	0.86[ASN][1000 genomes]
rs11589561	1.00[ASN][1000 genomes]
rs11591051	1.00[ASN][1000 genomes]
rs1386580	1.00[ASN][1000 genomes]
rs17461834	1.00[ASN][1000 genomes]
rs17462264	1.00[ASN][1000 genomes]
rs1906271	1.00[ASN][1000 genomes]
rs1906273	1.00[ASN][1000 genomes]
rs34457750	0.88[AFR][1000 genomes]
rs35052617	1.00[ASN][1000 genomes]
rs35061493	1.00[ASN][1000 genomes]
rs35077442	1.00[ASN][1000 genomes]
rs35844598	1.00[ASN][1000 genomes]
rs4573528	0.83[ASN][1000 genomes]
rs67339243	0.87[EUR][1000 genomes]
rs67867153	0.83[ASN][1000 genomes]
rs72734175	1.00[ASN][1000 genomes]
rs72734194	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734197	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734202	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765233	1.00[ASN][1000 genomes]
rs765308	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222614800-222628000	Weak transcription	Fetal Heart	heart
2	chr1:222615000-222628000	Weak transcription	Pancreas	Pancrea
3	chr1:222615600-222617800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:222615600-222618000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:222615800-222618000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:222616000-222616800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:222616000-222617600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:222616000-222618000	Enhancers	Primary T cells from cord blood	blood
9	chr1:222616400-222617600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr1:222616400-222618600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:222616600-222617600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:222616600-222617600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr1:222616600-222617600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:222616600-222618200	Enhancers	Primary T helper cells fromperipheralblood	blood

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