Variant report

Variant	rs16989711
Chromosome Location	chr22:32366491-32366492
allele	G/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	EGR1	chr22:32365967-32367117	HCT-116	colon:	n/a	chr22:32366769-32366782 chr22:32366338-32366352
2	ZEB1	chr22:32365854-32367012	GM12878	blood:	n/a	n/a
3	RAD21	chr22:32365795-32367134	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr22:32366007-32367130	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr22:32366079-32367040	K562	blood:	n/a	n/a
6	RAD21	chr22:32365865-32367086	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr22:32366102-32366501	K562	blood:	n/a	n/a
8	RAD21	chr22:32365969-32366523	ECC-1	luminal epithelium:	n/a	n/a
9	RAD21	chr22:32365826-32367227	SK-N-SH	brain:	n/a	n/a
10	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
11	POLR2A	chr22:32366099-32367092	H1-neurons	neurons:	n/a	n/a
12	MAX	chr22:32366067-32366493	SK-N-SH	brain:	n/a	n/a
13	RCOR1	chr22:32366079-32367123	K562	blood:	n/a	n/a
14	MYC	chr22:32366108-32366973	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr22:32366154-32367033	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr22:32366164-32367087	H1-neurons	neurons:	n/a	n/a
17	JUND	chr22:32366114-32367437	K562	blood:	n/a	n/a
18	CTCF	chr22:32365942-32367199	MCF-7	breast:	n/a	n/a
19	MYC	chr22:32366119-32366885	MCF10A-Er-Src	breast:	n/a	n/a
20	USF1	chr22:32366186-32366554	ECC-1	luminal epithelium:	n/a	n/a
21	ZEB1	chr22:32365957-32367088	HepG2	liver:	n/a	n/a
22	CTCF	chr22:32365540-32367361	SK-N-SH	brain:	n/a	n/a
23	RAD21	chr22:32365978-32367073	IMR90	lung:	n/a	n/a
24	E2F6	chr22:32366182-32366594	K562	blood:	n/a	n/a
25	MAX	chr22:32366024-32366903	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr22:32365842-32367215	HCT-116	colon:	n/a	n/a
27	CREB1	chr22:32366058-32367092	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr22:32365921-32367205	A549	lung:	n/a	n/a
29	POLR2A	chr22:32366070-32367131	H1-neurons	neurons:	n/a	n/a
30	RAD21	chr22:32365991-32366945	HepG2	liver:	n/a	n/a
31	RAD21	chr22:32365977-32367089	H1-hESC	embryonic stem cell:	n/a	n/a
32	EGR1	chr22:32366153-32366495	K562	blood:	n/a	chr22:32366338-32366352
33	EGR1	chr22:32365950-32367067	HCT-116	colon:	n/a	chr22:32366769-32366782 chr22:32366338-32366352
34	ZNF263	chr22:32365946-32367408	HEK293-T-REx	kidney:	n/a	chr22:32366653-32366662 chr22:32366657-32366678
35	MAX	chr22:32366068-32366586	A549	lung:	n/a	n/a
36	E2F6	chr22:32366058-32367135	H1-hESC	embryonic stem cell:	n/a	chr22:32366686-32366698 chr22:32366686-32366695
37	POLR2A	chr22:32366470-32366749	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr22:32366042-32366711	MCF-7	breast:	n/a	n/a
39	CTCF	chr22:32365983-32367151	HCT-116	colon:	n/a	n/a
40	SMC3	chr22:32366023-32366986	K562	blood:	n/a	chr22:32366939-32366949
41	MAZ	chr22:32365810-32367395	IMR90	lung:	n/a	n/a
42	SP4	chr22:32366043-32367048	H1-hESC	embryonic stem cell:	n/a	chr22:32366685-32366696 chr22:32366764-32366780 chr22:32366766-32366782 chr22:32366766-32366777 chr22:32366754-32366765
43	MAZ	chr22:32366096-32367121	K562	blood:	n/a	n/a
44	MAX	chr22:32365990-32367137	ECC-1	luminal epithelium:	n/a	n/a
45	RAD21	chr22:32365966-32366513	A549	lung:	n/a	n/a
46	MAX	chr22:32365988-32367136	A549	lung:	n/a	n/a
47	RCOR1	chr22:32365860-32366905	GM12878	blood:	n/a	n/a
48	BHLHE40	chr22:32365756-32366962	GM12878	blood:	n/a	n/a
49	IRF1	chr22:32366085-32367034	K562	blood:	n/a	chr22:32366752-32366766 chr22:32366773-32366782 chr22:32366764-32366778
50	MAX	chr22:32366084-32366966	Hela-S3	cervix:	n/a	n/a

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:

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11089531	1.00[CHB][hapmap]
rs11912760	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16987446	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16989540	1.00[CHB][hapmap]
rs16989600	1.00[CHB][hapmap]
rs2051583	1.00[CHB][hapmap]
rs28433835	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs33943816	0.92[EUR][1000 genomes]
rs56350448	0.92[EUR][1000 genomes]
rs5994436	1.00[CHB][hapmap]
rs5994459	0.86[EUR][1000 genomes]
rs5998144	1.00[CHB][hapmap]
rs5998161	1.00[CHB][hapmap]
rs62240589	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62240590	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62240611	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62240612	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62240614	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62240615	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7289702	1.00[CHB][hapmap]
rs73884250	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8140700	1.00[CEU][hapmap]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32365600-32366600	Enhancers	Fetal Thymus	thymus
2	chr22:32365800-32367200	Enhancers	Fetal Brain Male	brain
3	chr22:32365800-32367200	Flanking Active TSS	GM12878-XiMat	blood
4	chr22:32366000-32366600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr22:32366000-32366600	Enhancers	Primary B cells from cord blood	blood
6	chr22:32366000-32366600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:32366000-32366600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
8	chr22:32366000-32366600	Flanking Active TSS	Stomach Mucosa	stomach
9	chr22:32366000-32366800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr22:32366000-32366800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:32366000-32366800	Enhancers	Fetal Lung	lung
12	chr22:32366000-32366800	Enhancers	Spleen	Spleen
13	chr22:32366000-32367000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr22:32366000-32367000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr22:32366000-32367000	Active TSS	Hela-S3	cervix
16	chr22:32366000-32367200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:32366000-32367200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr22:32366000-32367200	Flanking Active TSS	HMEC	breast
19	chr22:32366000-32367400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr22:32366200-32366600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr22:32366200-32366600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr22:32366200-32366600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr22:32366200-32366600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:32366200-32366600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:32366200-32366600	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr22:32366200-32366600	Flanking Active TSS	Brain Cingulate Gyrus	brain
27	chr22:32366200-32366600	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr22:32366200-32366600	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr22:32366200-32366600	Flanking Active TSS	Fetal Brain Female	brain
30	chr22:32366200-32366600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:32366200-32366600	Flanking Active TSS	A549	lung
32	chr22:32366200-32366800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr22:32366200-32366800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr22:32366200-32366800	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr22:32366200-32366800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr22:32366200-32366800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:32366200-32366800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr22:32366200-32366800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr22:32366200-32366800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:32366200-32366800	Flanking Active TSS	Thymus	Thymus
41	chr22:32366200-32366800	Flanking Active TSS	Osteobl	bone
42	chr22:32366200-32367000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr22:32366200-32367000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:32366200-32367000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:32366200-32367000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr22:32366200-32367000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:32366200-32367000	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr22:32366200-32367200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr22:32366200-32367200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr22:32366200-32367200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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