Variant report

Variant	rs2413114
Chromosome Location	chr22:32805407-32805408
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:32805386-32805637	HepG2	liver:	n/a	chr22:32805513-32805526 chr22:32805604-32805617 chr22:32805514-32805525

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
2	chr22:32800445..32803051-chr22:32804188..32805697,2	K562	blood:

Variant related genes	Relation type
RTCB	TF binding region
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2076042	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2076044	0.94[ASN][1000 genomes]
rs715629	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9609537	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9609538	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9619262	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32780800-32806400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:32780800-32806400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr22:32781200-32806600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr22:32781400-32805600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:32781400-32806400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr22:32781400-32806600	Strong transcription	Placenta	Placenta
7	chr22:32781600-32806000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:32782800-32807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:32783200-32806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:32792600-32805600	Weak transcription	Stomach Mucosa	stomach
11	chr22:32794200-32807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:32798000-32806000	Weak transcription	Pancreas	Pancrea
13	chr22:32798000-32806800	Weak transcription	Psoas Muscle	Psoas
14	chr22:32798400-32806000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:32802000-32806800	Genic enhancers	Primary B cells from cord blood	blood
16	chr22:32803600-32805600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr22:32803600-32806000	Weak transcription	Fetal Brain Male	brain
18	chr22:32803800-32806200	Weak transcription	K562	blood
19	chr22:32804000-32806400	Weak transcription	Colonic Mucosa	Colon
20	chr22:32804200-32806000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr22:32804200-32806000	Weak transcription	Spleen	Spleen
22	chr22:32804200-32806200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:32804200-32806200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:32804200-32806400	Weak transcription	Gastric	stomach
25	chr22:32804200-32806600	Weak transcription	NHLF	lung
26	chr22:32804200-32806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:32804200-32806800	Weak transcription	Esophagus	oesophagus
28	chr22:32804200-32807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:32804200-32807600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:32804400-32805600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr22:32804400-32806000	Weak transcription	Colon Smooth Muscle	Colon
32	chr22:32804400-32806200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr22:32804400-32806400	Weak transcription	Fetal Stomach	stomach
34	chr22:32804600-32806000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr22:32804600-32806000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr22:32804600-32806000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr22:32804600-32806000	Genic enhancers	Dnd41	blood
38	chr22:32804600-32806200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr22:32804600-32806200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr22:32804600-32806200	Weak transcription	Brain Angular Gyrus	brain
41	chr22:32804600-32806200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr22:32804600-32806200	Weak transcription	Fetal Thymus	thymus
43	chr22:32804600-32806200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:32804600-32807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:32804800-32805600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr22:32804800-32805600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr22:32804800-32806000	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr22:32804800-32806000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:32804800-32806000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr22:32804800-32806000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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