Variant report

Variant	rs59913779
Chromosome Location	chr7:50476691-50476692
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	chr7:50474039..50475833-chr7:50475901..50477677,2	K562	blood:
3	chr7:50475535..50477063-chr7:50479519..50481899,2	K562	blood:
4	chr7:50473369..50477129-chr7:50477815..50481019,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11575564	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1470746	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17133828	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17553002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17553022	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17634434	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17634488	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs5014165	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56819103	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs57145809	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57345445	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58298367	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58744984	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs60056150	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61731356	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72645704	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72645705	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72645706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72645707	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72645709	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7779747	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7779917	0.94[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7792486	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	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
2	nsv515738	chr7:50476109-50494207	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59913779	IKZF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 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	chr7:50472600-50477400	Weak transcription	Dnd41	blood
10	chr7:50472600-50479000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:50473200-50477000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:50473400-50477600	Enhancers	GM12878-XiMat	blood
13	chr7:50473600-50477400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:50474000-50479600	Enhancers	Fetal Thymus	thymus
15	chr7:50474400-50478200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr7:50474400-50483600	Enhancers	Primary B cells from cord blood	blood
17	chr7:50475000-50476800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr7:50475000-50477600	Weak transcription	Primary T cells from cord blood	blood
19	chr7:50475000-50477600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:50475200-50477800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr7:50475400-50477000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:50475400-50477800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:50475400-50483800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:50475600-50478000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:50476200-50477000	Enhancers	Spleen	Spleen
26	chr7:50476200-50477200	Weak transcription	Thymus	Thymus
27	chr7:50476200-50479600	Enhancers	Primary hematopoietic stem cells	blood
28	chr7:50476400-50477600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr7:50476600-50479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:50476600-50479600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:50476600-50479800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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