Variant report

Variant	rs55866220
Chromosome Location	chr22:32600509-32600510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr22:32600125-32600883	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr22:32600222-32600512	A549	lung:	n/a	n/a
3	GABPA	chr22:32600212-32600560	A549	lung:	n/a	n/a
4	MXI1	chr22:32600475-32600707	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr22:32600193-32601362	ECC-1	luminal epithelium:	n/a	n/a
6	SIN3A	chr22:32600188-32601249	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr22:32600108-32601462	H1-neurons	neurons:	n/a	n/a
8	MXI1	chr22:32599656-32601962	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr22:32600049-32601474	H1-neurons	neurons:	n/a	n/a
10	CREB1	chr22:32600165-32600599	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr22:32600197-32600539	H1-hESC	embryonic stem cell:	n/a	n/a
12	REST	chr22:32600368-32601484	H1-neurons	neurons:	n/a	n/a
13	MAX	chr22:32600224-32601424	HepG2	liver:	n/a	n/a
14	REST	chr22:32600148-32601697	H1-neurons	neurons:	n/a	n/a
15	TAF1	chr22:32600501-32601344	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr22:32600168-32600511	A549	lung:	n/a	n/a
17	ZNF263	chr22:32600387-32601249	HEK293-T-REx	kidney:	n/a	n/a
18	MAX	chr22:32600146-32601432	A549	lung:	n/a	n/a
19	MAX	chr22:32600146-32601497	A549	lung:	n/a	n/a
20	POLR2A	chr22:32600432-32600803	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr22:32600434-32601349	MCF-7	breast:	n/a	n/a
22	POLR2A	chr22:32600119-32601453	H1-neurons	neurons:	n/a	n/a
23	GABPA	chr22:32600128-32600642	HL-60	blood:	n/a	n/a
24	SUZ12	chr22:32598394-32600569	NT2-D1	testis:	n/a	n/a
25	NRF1	chr22:32600046-32601438	SK-N-SH	brain:	n/a	n/a
26	ZBTB7A	chr22:32598591-32600675	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr22:32600306-32601379	HEK293	kidney:	n/a	n/a
28	E2F6	chr22:32600296-32601433	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr22:32600185-32601410	HepG2	liver:	n/a	n/a
30	MAX	chr22:32600110-32600846	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTBP2	chr22:32600303-32601240	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr22:32600450-32601325	HepG2	liver:	n/a	n/a
33	ZBTB7A	chr22:32598681-32600760	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr22:32600148-32601423	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:31936958-31958600..22:32594665-32606395	K562	blood:

No data

Variant related genes	Relation type
RFPL2	TF binding region
ENSG00000242082	TF binding region
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12160083	1.00[AMR][1000 genomes]
rs16989809	1.00[AMR][1000 genomes]
rs57131182	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5994475	1.00[AMR][1000 genomes]
rs5998265	1.00[AMR][1000 genomes]
rs5998270	1.00[AMR][1000 genomes]
rs60744612	1.00[AMR][1000 genomes]
rs8142324	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv3597	chr22:32588424-32632724	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32597800-32600800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
2	chr22:32598400-32600600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:32598400-32600800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr22:32598400-32600800	Enhancers	Pancreas	Pancrea
5	chr22:32598400-32602800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:32598600-32601200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr22:32598600-32601400	Active TSS	Brain Anterior Caudate	brain
8	chr22:32598600-32601800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr22:32598600-32601800	Active TSS	Brain Angular Gyrus	brain
10	chr22:32598600-32601800	Active TSS	A549	lung
11	chr22:32598600-32603400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:32598800-32600600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr22:32598800-32600600	Bivalent Enhancer	Fetal Brain Male	brain
14	chr22:32598800-32601000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:32598800-32601000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr22:32598800-32601800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr22:32599200-32601800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr22:32599400-32600600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:32599400-32600800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:32599400-32600800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr22:32599600-32600800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
22	chr22:32599600-32601400	Active TSS	Brain Cingulate Gyrus	brain
23	chr22:32599600-32602600	Active TSS	Duodenum Mucosa	Duodenum
24	chr22:32599800-32600600	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr22:32599800-32600600	Weak transcription	Esophagus	oesophagus
26	chr22:32599800-32601200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr22:32600000-32600600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr22:32600000-32600800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr22:32600000-32600800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr22:32600000-32601000	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr22:32600000-32601200	Active TSS	Right Ventricle	heart
32	chr22:32600000-32601800	Active TSS	Fetal Brain Female	brain
33	chr22:32600000-32602000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:32600000-32602600	Weak transcription	Spleen	Spleen
35	chr22:32600000-32603200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr22:32600200-32600600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:32600200-32600600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
38	chr22:32600200-32600600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr22:32600200-32600600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr22:32600200-32600800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr22:32600200-32600800	Bivalent/Poised TSS	Colonic Mucosa	Colon
42	chr22:32600200-32600800	Enhancers	Fetal Heart	heart
43	chr22:32600200-32601000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:32600200-32601000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr22:32600200-32601000	Bivalent/Poised TSS	NHEK	skin
46	chr22:32600200-32601200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
47	chr22:32600200-32601400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr22:32600200-32601400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr22:32600200-32601400	Bivalent Enhancer	Placenta	Placenta
50	chr22:32600200-32601400	Bivalent/Poised TSS	Fetal Stomach	stomach

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