Variant report

Variant	rs10216316
Chromosome Location	chr7:50462418-50462419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50458483..50461441-chr7:50461737..50464735,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1002371	0.82[EUR][1000 genomes]
rs10215297	0.96[AFR][1000 genomes];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]
rs11980407	1.00[JPT][hapmap]
rs28573146	0.82[EUR][1000 genomes]
rs28625633	0.93[ASN][1000 genomes]
rs55826129	0.83[ASN][1000 genomes]
rs55981617	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56156635	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61731355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62445869	0.81[AMR][1000 genomes]
rs62447207	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62447208	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6944602	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6952409	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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
rs10216316	IKZF1	cis	multi-tissue	Pritchard

Chromatin state (count:41 , 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	chr7:50451400-50462600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:50453200-50467800	Weak transcription	Pancreas	Pancrea
7	chr7:50455400-50463400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:50459000-50462600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:50459800-50462600	Genic enhancers	Primary monocytes fromperipheralblood	blood
10	chr7:50460000-50462600	Genic enhancers	GM12878-XiMat	blood
11	chr7:50460200-50462600	Genic enhancers	Thymus	Thymus
12	chr7:50460200-50464200	Genic enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:50460400-50466200	Weak transcription	Lung	lung
14	chr7:50460800-50462600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
15	chr7:50461400-50462600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr7:50461600-50468600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:50461600-50472600	Strong transcription	Dnd41	blood
18	chr7:50461800-50464200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:50461800-50467800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr7:50462000-50462600	Strong transcription	K562	blood
21	chr7:50462000-50463400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:50462000-50464000	Strong transcription	Primary hematopoietic stem cells	blood
23	chr7:50462000-50466400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:50462000-50467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr7:50462200-50462600	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr7:50462200-50463400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:50462200-50464000	Genic enhancers	Primary T cells from cord blood	blood
28	chr7:50462200-50464000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr7:50462200-50464200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:50462200-50464400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:50462200-50467800	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr7:50462400-50462600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:50462400-50463400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:50462400-50463400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:50462400-50464200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr7:50462400-50464200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
37	chr7:50462400-50464400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr7:50462400-50464400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:50462400-50464400	Strong transcription	Fetal Thymus	thymus
40	chr7:50462400-50465000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr7:50462400-50465800	Weak transcription	Spleen	Spleen

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