Variant report

Variant	rs73881628
Chromosome Location	chr22:32601054-32601055
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32600836-32601355	ECC-1	luminal epithelium:	n/a	n/a
2	E2F4	chr22:32600904-32601210	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr22:32600935-32601324	A549	lung:	n/a	n/a
4	MAX	chr22:32600946-32601296	NB4	blood:	n/a	n/a
5	POLR2A	chr22:32600831-32601308	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr22:32600938-32601383	A549	lung:	n/a	n/a
7	MAX	chr22:32600953-32601395	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUND	chr22:32601007-32601231	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr22:32600853-32601335	SK-N-SH	brain:	n/a	n/a
10	MAX	chr22:32600193-32601362	ECC-1	luminal epithelium:	n/a	n/a
11	SIN3A	chr22:32600188-32601249	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr22:32600108-32601462	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr22:32600811-32601373	HepG2	liver:	n/a	n/a
14	FOS	chr22:32600997-32601270	MCF10A-Er-Src	breast:	n/a	n/a
15	MXI1	chr22:32599656-32601962	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr22:32600049-32601474	H1-neurons	neurons:	n/a	n/a
17	E2F6	chr22:32600888-32601407	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr22:32600980-32601244	A549	lung:	n/a	n/a
19	HEY1	chr22:32600862-32601298	HepG2	liver:	n/a	n/a
20	POLR2A	chr22:32600874-32601242	HepG2	liver:	n/a	n/a
21	POLR2A	chr22:32600962-32601262	A549	lung:	n/a	n/a
22	FOS	chr22:32601026-32601244	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr22:32600949-32601261	A549	lung:	n/a	n/a
24	REST	chr22:32600368-32601484	H1-neurons	neurons:	n/a	n/a
25	MAX	chr22:32600224-32601424	HepG2	liver:	n/a	n/a
26	REST	chr22:32600148-32601697	H1-neurons	neurons:	n/a	n/a
27	TAF1	chr22:32600501-32601344	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr22:32600974-32601254	A549	lung:	n/a	n/a
29	POLR2A	chr22:32600594-32601359	HCT-116	colon:	n/a	n/a
30	JUND	chr22:32600873-32601295	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF263	chr22:32600387-32601249	HEK293-T-REx	kidney:	n/a	n/a
32	MAX	chr22:32600574-32601288	H1-hESC	embryonic stem cell:	n/a	n/a
33	MYC	chr22:32600600-32601266	MCF10A-Er-Src	breast:	n/a	n/a
34	MAX	chr22:32600146-32601432	A549	lung:	n/a	n/a
35	MAX	chr22:32600146-32601497	A549	lung:	n/a	n/a
36	POLR2A	chr22:32600876-32601328	HCT-116	colon:	n/a	n/a
37	CTCF	chr22:32600933-32601333	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr22:32600434-32601349	MCF-7	breast:	n/a	n/a
39	POLR2A	chr22:32600119-32601453	H1-neurons	neurons:	n/a	n/a
40	MAX	chr22:32600889-32601406	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOS	chr22:32600997-32601228	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr22:32600989-32601281	MCF-7	breast:	n/a	n/a
43	CTCF	chr22:32601012-32601335	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr22:32600910-32601239	PBDE	blood:	n/a	n/a
45	RCOR1	chr22:32600874-32601236	HepG2	liver:	n/a	n/a
46	GATA2	chr22:32600775-32601229	SH-SY5Y	brain:	n/a	n/a
47	MYC	chr22:32600695-32601251	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr22:32600816-32601330	HCT-116	colon:	n/a	n/a
49	NRF1	chr22:32600046-32601438	SK-N-SH	brain:	n/a	n/a
50	KAP1	chr22:32600600-32601196	U2OS	brain:	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
ENSG00000242082	TF binding region
RFPL2	TF binding region
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5994499	1.00[ASN][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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32598400-32602800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:32598600-32601200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr22:32598600-32601400	Active TSS	Brain Anterior Caudate	brain
4	chr22:32598600-32601800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr22:32598600-32601800	Active TSS	Brain Angular Gyrus	brain
6	chr22:32598600-32601800	Active TSS	A549	lung
7	chr22:32598600-32603400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:32598800-32601800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr22:32599200-32601800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr22:32599600-32601400	Active TSS	Brain Cingulate Gyrus	brain
11	chr22:32599600-32602600	Active TSS	Duodenum Mucosa	Duodenum
12	chr22:32599800-32601200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr22:32600000-32601200	Active TSS	Right Ventricle	heart
14	chr22:32600000-32601800	Active TSS	Fetal Brain Female	brain
15	chr22:32600000-32602000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr22:32600000-32602600	Weak transcription	Spleen	Spleen
17	chr22:32600000-32603200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:32600200-32601200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
19	chr22:32600200-32601400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr22:32600200-32601400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
21	chr22:32600200-32601400	Bivalent Enhancer	Placenta	Placenta
22	chr22:32600200-32601400	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr22:32600200-32601600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:32600200-32601600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr22:32600400-32601200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr22:32600400-32601200	Flanking Active TSS	Liver	Liver
27	chr22:32600400-32601200	Enhancers	Lung	lung
28	chr22:32600400-32601400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:32600400-32601400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr22:32600600-32601200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:32600600-32601200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr22:32600600-32601200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr22:32600600-32601200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:32600600-32601200	Enhancers	Esophagus	oesophagus
35	chr22:32600600-32601200	Bivalent/Poised TSS	Fetal Kidney	kidney
36	chr22:32600600-32601400	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
37	chr22:32600600-32601400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
38	chr22:32600600-32601400	Active TSS	Ovary	ovary
39	chr22:32600800-32601200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:32600800-32601200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:32600800-32601200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:32600800-32601200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr22:32600800-32601200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:32600800-32601200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr22:32600800-32601200	Bivalent/Poised TSS	Fetal Lung	lung
46	chr22:32600800-32601200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
47	chr22:32600800-32601200	Bivalent/Poised TSS	Osteobl	bone
48	chr22:32600800-32601400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:32600800-32601400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr22:32600800-32601400	Active TSS	Primary T helper cells fromperipheralblood	blood

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