Variant report

Variant	rs56156635
Chromosome Location	chr7:50466276-50466277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1002371	0.84[EUR][1000 genomes]
rs10215297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216316	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236879	0.93[ASN][1000 genomes]
rs10262731	0.93[ASN][1000 genomes]
rs28573146	0.84[EUR][1000 genomes]
rs28625633	0.93[ASN][1000 genomes]
rs55826129	0.83[ASN][1000 genomes]
rs55981617	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61731355	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445869	0.81[AMR][1000 genomes]
rs62447207	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62447208	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6944602	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6952409	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809377	0.83[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
rs56156635	IKZF1	cis	multi-tissue	Pritchard

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50431400-50472600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:50447200-50467400	Weak transcription	Esophagus	oesophagus
3	chr7:50447200-50467400	Weak transcription	Gastric	stomach
4	chr7:50449200-50467400	Weak transcription	Liver	Liver
5	chr7:50453200-50467800	Weak transcription	Pancreas	Pancrea
6	chr7:50461600-50468600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:50461600-50472600	Strong transcription	Dnd41	blood
8	chr7:50461800-50467800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr7:50462000-50466400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
10	chr7:50462000-50467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:50462200-50467800	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr7:50463800-50467800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:50464000-50466400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr7:50464200-50466600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr7:50464200-50471600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr7:50464400-50466800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr7:50464400-50467600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:50464400-50470600	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr7:50464400-50474400	Strong transcription	Thymus	Thymus
20	chr7:50464600-50471200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr7:50464600-50472200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr7:50464800-50466400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:50464800-50466600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:50464800-50467600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:50464800-50467800	Genic enhancers	Primary B cells from cord blood	blood
26	chr7:50464800-50472200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:50464800-50472400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr7:50464800-50472400	Strong transcription	Fetal Thymus	thymus
29	chr7:50465000-50466400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:50465000-50467000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:50465400-50472800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:50465600-50467800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:50465600-50470400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:50465600-50472600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:50465600-50473400	Strong transcription	Primary T cells from cord blood	blood
36	chr7:50465800-50466400	Strong transcription	K562	blood
37	chr7:50465800-50467400	Strong transcription	Spleen	Spleen
38	chr7:50465800-50472200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr7:50466000-50466400	Genic enhancers	GM12878-XiMat	blood
40	chr7:50466200-50466400	Active TSS	Lung	lung

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