Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:223361957..223364992-chr1:223369104..223372360,3	K562	blood:
2	chr1:223363492..223366488-chr1:223370003..223372066,2	K562	blood:
3	chr1:223364711..223366451-chr1:223405602..223407678,2	K562	blood:

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11485987	1.00[MEX][hapmap]
rs1612521	0.83[AMR][1000 genomes]
rs1624408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1640806	1.00[MEX][hapmap]
rs1640862	1.00[MEX][hapmap]
rs1773720	1.00[AMR][1000 genomes]
rs1773721	0.83[AMR][1000 genomes]
rs1773722	0.83[AMR][1000 genomes]
rs1773723	0.83[AMR][1000 genomes]
rs2430411	1.00[AMR][1000 genomes]
rs2487841	1.00[AMR][1000 genomes]
rs28373518	1.00[EUR][1000 genomes]
rs28445941	1.00[EUR][1000 genomes]
rs28488039	1.00[EUR][1000 genomes]
rs28782805	1.00[EUR][1000 genomes]
rs35801972	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5744110	1.00[EUR][1000 genomes]
rs5744134	1.00[MEX][hapmap]
rs5744135	1.00[MEX][hapmap]
rs5744138	1.00[MEX][hapmap]
rs5744139	1.00[MEX][hapmap]
rs5744140	1.00[MEX][hapmap]
rs5744143	1.00[MEX][hapmap]
rs5744149	1.00[MEX][hapmap]
rs6658085	1.00[EUR][1000 genomes]
rs6693240	1.00[EUR][1000 genomes]
rs725971	1.00[AMR][1000 genomes]
rs725972	1.00[EUR][1000 genomes]
rs851153	1.00[MEX][hapmap]
rs851159	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
2	chr1:223361400-223365400	Enhancers	Primary T cells from cord blood	blood
3	chr1:223361400-223365400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:223361600-223365600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr1:223361800-223366400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:223362000-223365000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:223362000-223365200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:223362200-223365000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:223362200-223366200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:223362800-223365000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr1:223363200-223370400	Weak transcription	Gastric	stomach
12	chr1:223363800-223365200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:223364000-223366400	Weak transcription	Fetal Thymus	thymus
14	chr1:223364200-223365800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr1:223364800-223365000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:223364800-223365000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:223364800-223367000	Enhancers	Primary T cells fromperipheralblood	blood

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