Variant report

Variant	rs10264390
Chromosome Location	chr7:50475321-50475322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50467942..50470799-chr7:50474362..50477015,2	K562	blood:
2	chr7:50473414..50475429-chr7:50484863..50486654,2	K562	blood:
3	chr7:50473369..50477129-chr7:50477815..50481019,4	K562	blood:
4	chr7:50474039..50475833-chr7:50475901..50477677,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10230978	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10272724	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10278451	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1110701	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11552047	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11978267	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11980379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133805	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17133807	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28462675	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696237	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4132601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58923657	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445866	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445869	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62447205	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62447208	0.83[AMR][1000 genomes]
rs6956014	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960400	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6964969	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973210	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10264390	IKZF1	cis	multi-tissue	Pritchard

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50467000-50477200	Weak transcription	Colonic Mucosa	Colon
2	chr7:50468200-50479800	Weak transcription	Gastric	stomach
3	chr7:50469000-50476800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr7:50469000-50480600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:50470600-50485600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:50470800-50477400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:50472200-50483800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:50472400-50486400	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:50472600-50475400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr7:50472600-50477400	Weak transcription	Dnd41	blood
11	chr7:50472600-50479000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:50473000-50475800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr7:50473200-50475400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr7:50473200-50477000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:50473400-50476000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:50473400-50476200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:50473400-50477600	Enhancers	GM12878-XiMat	blood
18	chr7:50473600-50476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:50473600-50477400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr7:50473800-50476600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:50474000-50479600	Enhancers	Fetal Thymus	thymus
22	chr7:50474400-50475400	Weak transcription	Thymus	Thymus
23	chr7:50474400-50478200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:50474400-50483600	Enhancers	Primary B cells from cord blood	blood
25	chr7:50474600-50475400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:50474600-50475600	Bivalent Enhancer	NHEK	skin
27	chr7:50475000-50475600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:50475000-50475800	Weak transcription	Spleen	Spleen
29	chr7:50475000-50476800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr7:50475000-50477600	Weak transcription	Primary T cells from cord blood	blood
31	chr7:50475000-50477600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr7:50475200-50475400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr7:50475200-50477800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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