Variant report

Variant	rs73884250
Chromosome Location	chr22:32366632-32366633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:124)
CpG islands
(count:61)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:124 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr22:32365967-32367117	HCT-116	colon:	n/a	chr22:32366769-32366782 chr22:32366338-32366352
2	CREB1	chr22:32366532-32366983	A549	lung:	n/a	n/a
3	ZEB1	chr22:32365854-32367012	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:32366556-32367153	MCF-7	breast:	n/a	n/a
5	RAD21	chr22:32366597-32366941	SK-N-SH_RA	brain:	n/a	n/a
6	RAD21	chr22:32365795-32367134	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr22:32366007-32367130	H1-hESC	embryonic stem cell:	n/a	n/a
8	RAD21	chr22:32366583-32367061	MCF-7	breast:	n/a	n/a
9	CTCF	chr22:32366079-32367040	K562	blood:	n/a	n/a
10	RAD21	chr22:32365865-32367086	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr22:32365826-32367227	SK-N-SH	brain:	n/a	n/a
12	RAD21	chr22:32366534-32367139	MCF-7	breast:	n/a	n/a
13	RAD21	chr22:32366602-32367077	A549	lung:	n/a	n/a
14	SP1	chr22:32366454-32367017	H1-hESC	embryonic stem cell:	n/a	chr22:32366685-32366696 chr22:32366686-32366695 chr22:32366755-32366764 chr22:32366766-32366778 chr22:32366687-32366696 chr22:32366682-32366696 chr22:32366754-32366766 chr22:32366766-32366777 chr22:32366654-32366668 chr22:32366754-32366766 chr22:32366766-32366778 chr22:32366754-32366765
15	POLR2A	chr22:32366099-32367092	H1-neurons	neurons:	n/a	n/a
16	RCOR1	chr22:32366079-32367123	K562	blood:	n/a	n/a
17	MYC	chr22:32366108-32366973	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr22:32366154-32367033	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP4	chr22:32366512-32367023	H1-hESC	embryonic stem cell:	n/a	chr22:32366685-32366696 chr22:32366764-32366780 chr22:32366766-32366782 chr22:32366766-32366777 chr22:32366754-32366765
20	TAF1	chr22:32366164-32367087	H1-neurons	neurons:	n/a	n/a
21	JUND	chr22:32366114-32367437	K562	blood:	n/a	n/a
22	CTCF	chr22:32365942-32367199	MCF-7	breast:	n/a	n/a
23	MYC	chr22:32366119-32366885	MCF10A-Er-Src	breast:	n/a	n/a
24	ZEB1	chr22:32365957-32367088	HepG2	liver:	n/a	n/a
25	CTCF	chr22:32365540-32367361	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr22:32365978-32367073	IMR90	lung:	n/a	n/a
27	ZNF143	chr22:32366629-32366954	Hela-S3	cervix:	n/a	chr22:32366686-32366704
28	MAX	chr22:32366024-32366903	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr22:32365842-32367215	HCT-116	colon:	n/a	n/a
30	CREB1	chr22:32366058-32367092	H1-hESC	embryonic stem cell:	n/a	n/a
31	SPI1	chr22:32366520-32367007	HL-60	blood:	n/a	chr22:32366654-32366667 chr22:32366768-32366781 chr22:32366569-32366578
32	CTCF	chr22:32365921-32367205	A549	lung:	n/a	n/a
33	POLR2A	chr22:32366070-32367131	H1-neurons	neurons:	n/a	n/a
34	CTCF	chr22:32366582-32367010	K562	blood:	n/a	n/a
35	RAD21	chr22:32365991-32366945	HepG2	liver:	n/a	n/a
36	RAD21	chr22:32366597-32367069	SK-N-SH_RA	brain:	n/a	n/a
37	TBP	chr22:32366577-32366906	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr22:32366610-32367095	GM12892	blood:	n/a	n/a
39	RAD21	chr22:32365977-32367089	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr22:32366555-32367031	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr22:32366601-32367048	MCF-7	breast:	n/a	n/a
42	EGR1	chr22:32365950-32367067	HCT-116	colon:	n/a	chr22:32366769-32366782 chr22:32366338-32366352
43	FOXP2	chr22:32366609-32367078	PFSK-1	brain:	n/a	n/a
44	ZNF263	chr22:32365946-32367408	HEK293-T-REx	kidney:	n/a	chr22:32366653-32366662 chr22:32366657-32366678
45	E2F6	chr22:32366058-32367135	H1-hESC	embryonic stem cell:	n/a	chr22:32366686-32366698 chr22:32366686-32366695
46	POLR2A	chr22:32366470-32366749	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr22:32366547-32366745	HepG2	liver:	n/a	chr22:32366651-32366661
48	MAX	chr22:32366042-32366711	MCF-7	breast:	n/a	n/a
49	MAZ	chr22:32366604-32367068	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr22:32365983-32367151	HCT-116	colon:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32366631-32366681	HCT-116	colon:	n/a
2	chr22:32366631-32366681	K562	blood:	n/a
3	chr22:32366631-32366681	SK-N-SH_RA	brain:	n/a
4	chr22:32366631-32366681	HMEC	breast:	n/a
5	chr22:32366631-32366681	AoSMC	blood vessel:	n/a
6	chr22:32366631-32366681	HCF	heart:	n/a
7	chr22:32366631-32366681	NH-A	brain:	n/a
8	chr22:32366631-32366681	AG09319	gingival:	n/a
9	chr22:32366631-32366681	GM12892	blood:	n/a
10	chr22:32366631-32366681	HCPEpiC	choroid plexus:	n/a
11	chr22:32366631-32366681	SK-N-SH	brain:	n/a
12	chr22:32366631-32366681	AG10803	skin:	n/a
13	chr22:32366631-32366681	HPAEpiC	pulmonary alveolar:	n/a
14	chr22:32366631-32366681	HEK293	kidney:	embryo
15	chr22:32366631-32366681	HAEpiC	amniotic membrane:	n/a
16	chr22:32366631-32366681	NB4	blood:	n/a
17	chr22:32366631-32366681	HEEpiC	esophagus:	n/a
18	chr22:32366631-32366681	ECC-1	luminal epithelium:	n/a
19	chr22:32366631-32366681	ovcar-3	ovarian:	n/a
20	chr22:32366631-32366681	AG09309	skin:	n/a
21	chr22:32366631-32366681	NT2-D1	testis:	n/a
22	chr22:32366631-32366681	GM06990	blood:	n/a
23	chr22:32366631-32366681	GM12891	blood:	n/a
24	chr22:32366631-32366681	LNCaP	prostate:	n/a
25	chr22:32366631-32366681	ProgFib	skin:	n/a
26	chr22:32366631-32366681	HNPCEpiC	eye:	n/a
27	chr22:32366631-32366681	NHDF-neo	bronchial:	n/a
28	chr22:32366631-32366681	BJ	skin:	n/a
29	chr22:32366631-32366681	PFSK-1	brain:	n/a
30	chr22:32366631-32366681	HL-60	blood:	n/a
31	chr22:32366631-32366681	RPTEC	kidney:	n/a
32	chr22:32366631-32366681	AG04449	skin:	fetal
33	chr22:32366631-32366681	HRE	kidney:	n/a
34	chr22:32366631-32366681	U87	brain:	n/a
35	chr22:32366631-32366681	HIPEpiC	eye:	n/a
36	chr22:32366631-32366681	GM12878	blood:	n/a
37	chr22:32366631-32366681	HepG2	liver:	n/a
38	chr22:32366631-32366681	SAEC	small airway:	n/a
39	chr22:32366631-32366681	T-47D	breast:	n/a
40	chr22:32366631-32366681	AG04450	lung:	fetal
41	chr22:32366631-32366681	H1-hESC	embryonic stem cell:	embryo
42	chr22:32366631-32366681	GM19239	blood:	n/a
43	chr22:32366631-32366681	NHBE	bronchial:	n/a
44	chr22:32366631-32366681	Jurkat	blood:	n/a
45	chr22:32366631-32366681	SK-N-MC	brain:	n/a
46	chr22:32366631-32366681	Caco-2	colon:	n/a
47	chr22:32366631-32366681	MCF-7	breast:	n/a
48	chr22:32366631-32366681	SKMC	muscle:	n/a
49	chr22:32366631-32366681	HCM	heart:	n/a
50	chr22:32366631-32366681	CMK	blood:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62609146..62610653-chr22:32365275..32366775,2	K562	blood:
2	chr22:32365255..32366775-chr3:73159952..73161574,3	K562	blood:
3	chr11:62609150..62609700-chr22:32366255..32366775,2	MCF-7	breast:
4	chr17:41464701..41467719-chr22:32365255..32368255,4	MCF-7	breast:
5	chr11:62609149..62609721-chr22:32366275..32366775,2	HCT-116	colon:
6	22:32360288-32405313..22:32764253-32784733	K562	blood:
7	chr22:31952335..31953173-chr22:32365824..32366681,2	MCF-7	breast:
8	chr22:32365255..32368255-chr3:73159964..73161574,3	K562	blood:
9	22:32360288-32405313..22:32868055-32872511	K562	blood:
10	22:32012966-32043914..22:32360288-32405313	K562	blood:
11	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
12	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
13	chr22:32061316..32062330-chr22:32365767..32366693,3	K562	blood:
14	22:32360288-32405313..22:32750950-32761732	K562	blood:
15	22:32360288-32405313..22:32860159-32865649	K562	blood:
16	22:32360288-32405313..22:32740683-32750950	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230866	TF binding region
ENSG00000230866	CpG island
ENSG00000188825	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12484973	0.92[ASN][1000 genomes]
rs16989711	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2267174	0.89[ASN][1000 genomes]
rs28433835	0.86[AMR][1000 genomes]
rs62240589	0.86[AMR][1000 genomes]
rs62240590	0.86[AMR][1000 genomes]
rs62240611	0.88[AMR][1000 genomes]
rs62240612	0.88[AMR][1000 genomes]
rs62240614	0.88[AMR][1000 genomes]
rs62240615	0.88[AMR][1000 genomes]
rs7285301	0.89[ASN][1000 genomes]
rs7289796	0.97[ASN][1000 genomes]
rs7292510	0.92[ASN][1000 genomes]
rs738993	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1055925	chr22:32358540-32450200	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1059240	chr22:32362689-32462511	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv544678	chr22:32362689-32462511	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32365800-32367200	Enhancers	Fetal Brain Male	brain
2	chr22:32365800-32367200	Flanking Active TSS	GM12878-XiMat	blood
3	chr22:32366000-32366800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr22:32366000-32366800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:32366000-32366800	Enhancers	Fetal Lung	lung
6	chr22:32366000-32366800	Enhancers	Spleen	Spleen
7	chr22:32366000-32367000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr22:32366000-32367000	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr22:32366000-32367000	Active TSS	Hela-S3	cervix
10	chr22:32366000-32367200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:32366000-32367200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
12	chr22:32366000-32367200	Flanking Active TSS	HMEC	breast
13	chr22:32366000-32367400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr22:32366200-32366800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr22:32366200-32366800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr22:32366200-32366800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr22:32366200-32366800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:32366200-32366800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:32366200-32366800	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr22:32366200-32366800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:32366200-32366800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:32366200-32366800	Flanking Active TSS	Thymus	Thymus
23	chr22:32366200-32366800	Flanking Active TSS	Osteobl	bone
24	chr22:32366200-32367000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr22:32366200-32367000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr22:32366200-32367000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:32366200-32367000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr22:32366200-32367000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:32366200-32367000	Flanking Active TSS	Fetal Intestine Large	intestine
30	chr22:32366200-32367200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr22:32366200-32367200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr22:32366200-32367200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:32366200-32367200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:32366200-32367200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:32366200-32367200	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr22:32366200-32367200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr22:32366200-32367200	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr22:32366200-32367200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
39	chr22:32366200-32367200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr22:32366200-32367200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr22:32366200-32367200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr22:32366200-32367200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr22:32366200-32367200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr22:32366200-32367200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:32366200-32367200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:32366200-32367200	Active TSS	Brain Angular Gyrus	brain
47	chr22:32366200-32367200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr22:32366200-32367200	Active TSS	Brain Substantia Nigra	brain
49	chr22:32366200-32367200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr22:32366200-32367200	Enhancers	Fetal Heart	heart

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