Variant report

Variant	rs11704601
Chromosome Location	chr22:21984568-21984569
allele	A/G
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	MAZ	chr22:21983496-21984569	HepG2	liver:	n/a	n/a
2	HMGN3	chr22:21982380-21984639	K562	blood:	n/a	n/a
3	USF2	chr22:21983312-21984585	K562	blood:	n/a	chr22:21984395-21984411
4	MAX	chr22:21983312-21984595	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:21980580-21984939	K562	blood:	n/a	n/a
6	RUNX3	chr22:21983152-21984635	GM12878	blood:	n/a	n/a
7	MAZ	chr22:21983386-21984586	GM12878	blood:	n/a	n/a
8	E2F6	chr22:21982481-21984627	K562	blood:	n/a	chr22:21983082-21983094
9	CTCF	chr22:21984208-21984611	MCF-7	breast:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
10	CTCF	chr22:21982333-21984660	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
11	CTCF	chr22:21982359-21984783	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
12	POLR2A	chr22:21982137-21984611	GM18505	blood:	n/a	n/a
13	GABPA	chr22:21983191-21984602	K562	blood:	n/a	n/a
14	SMC3	chr22:21984139-21984631	Hela-S3	cervix:	n/a	chr22:21984431-21984445
15	CTCF	chr22:21984317-21984612	ECC-1	luminal epithelium:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
16	CTBP2	chr22:21983512-21984602	H1-hESC	embryonic stem cell:	n/a	n/a
17	ELF1	chr22:21982929-21984644	HCT-116	colon:	n/a	chr22:21983202-21983211 chr22:21983202-21983213 chr22:21983178-21983187 chr22:21983203-21983212 chr22:21983202-21983213
18	CTCF	chr22:21983061-21984772	SK-N-SH	brain:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
19	MAX	chr22:21983179-21984580	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr22:21984310-21984584	Medullo	brain:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
21	MAZ	chr22:21983324-21984600	IMR90	lung:	n/a	n/a
22	MAX	chr22:21983374-21984595	H1-hESC	embryonic stem cell:	n/a	n/a
23	EGR1	chr22:21982323-21984614	K562	blood:	n/a	chr22:21984287-21984301
24	MYC	chr22:21982938-21984709	MCF10A-Er-Src	breast:	n/a	chr22:21983157-21983167
25	EGR1	chr22:21982456-21984627	K562	blood:	n/a	chr22:21984287-21984301
26	TEAD4	chr22:21976201-21984706	K562	blood:	n/a	n/a
27	TBL1XR1	chr22:21982144-21984618	K562	blood:	n/a	n/a
28	IRF1	chr22:21983338-21984663	K562	blood:	n/a	n/a
29	RAD21	chr22:21984325-21984595	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr22:21983200-21984600	ECC-1	luminal epithelium:	n/a	chr22:21984404-21984411
31	MAX	chr22:21982437-21984581	K562	blood:	n/a	chr22:21983157-21983167
32	POLR2A	chr22:21982097-21984600	HL-60	blood:	n/a	n/a
33	CTCF	chr22:21984420-21984570	GM12872	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
34	CTCF	chr22:21984206-21984593	GM12891	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
35	YY1	chr22:21983365-21984633	H1-hESC	embryonic stem cell:	n/a	n/a
36	SP1	chr22:21984075-21984587	A549	lung:	n/a	chr22:21984356-21984367 chr22:21984380-21984391
37	NRF1	chr22:21984107-21984575	K562	blood:	n/a	chr22:21984282-21984293
38	YY1	chr22:21984156-21984580	HCT-116	colon:	n/a	n/a
39	MAX	chr22:21983218-21984631	HepG2	liver:	n/a	n/a
40	RCOR1	chr22:21982149-21984632	K562	blood:	n/a	n/a
41	ELF1	chr22:21982356-21984668	GM12878	blood:	n/a	chr22:21983202-21983211 chr22:21983202-21983213 chr22:21983178-21983187 chr22:21983203-21983212 chr22:21983202-21983213
42	MYC	chr22:21982151-21984642	K562	blood:	n/a	chr22:21983157-21983167
43	CTCF	chr22:21984347-21984581	T-47D	breast:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
44	GTF2F1	chr22:21984216-21984624	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr22:21984336-21984582	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr22:21982119-21984665	GM12878	blood:	n/a	n/a
47	JUND	chr22:21984289-21984581	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr22:21983366-21984662	GM12878	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
49	MAX	chr22:21982300-21984665	HCT-116	colon:	n/a	chr22:21983157-21983167
50	ZNF143	chr22:21984207-21984573	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21269803..21271886-chr22:21982813..21985485,2	K562	blood:
2	chr22:20861847..20864398-chr22:21982192..21984735,3	K562	blood:
3	chr22:20378583..20380116-chr22:21982503..21985257,2	K562	blood:
4	chr22:21349434..21351895-chr22:21984547..21986903,2	K562	blood:
5	chr22:21982535..21985245-chr22:22018115..22021988,3	MCF-7	breast:
6	chr22:21982265..21985710-chr22:22005242..22008783,5	MCF-7	breast:
7	chr22:21983800..21985930-chr9:136215021..136217222,2	K562	blood:
8	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
9	chr22:21353932..21358932-chr22:21981928..21985927,5	K562	blood:
10	chr22:21821085..21824065-chr22:21983565..21985249,2	K562	blood:
11	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:
12	chr22:21368598..21370649-chr22:21982712..21985008,2	K562	blood:
13	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
14	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:
15	chr22:21921535..21923886-chr22:21982326..21985629,8	MCF-7	breast:
16	chr12:120728150..120730053-chr22:21983081..21985244,2	K562	blood:
17	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
18	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
19	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
20	chr1:11968224..11970573-chr22:21982926..21985851,3	K562	blood:
21	chr22:21982497..21985083-chr22:22004368..22006741,4	MCF-7	breast:

Variant related genes	Relation type
YDJC	TF binding region
CCDC116	TF binding region
ENSG00000099949	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000206611	Chromatin interaction
ENSG00000148303	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000200831	Chromatin interaction
ENSG00000185651	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000206176	Chromatin interaction
ENSG00000099957	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000206140	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000099917	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11705259	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11705317	0.80[EUR][1000 genomes]
rs131666	1.00[AFR][1000 genomes]
rs181364	0.91[ASN][1000 genomes]
rs181365	0.91[ASN][1000 genomes]
rs34035987	0.80[EUR][1000 genomes]
rs34592211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35113423	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs35844718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs372108	1.00[AFR][1000 genomes]
rs3747091	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs388113	1.00[AFR][1000 genomes]
rs390720	1.00[AFR][1000 genomes]
rs391324	1.00[AFR][1000 genomes]
rs394073	1.00[AFR][1000 genomes]
rs402225	1.00[AFR][1000 genomes]
rs428595	1.00[AFR][1000 genomes]
rs436570	1.00[AFR][1000 genomes]
rs443845	1.00[AFR][1000 genomes]
rs451422	1.00[AFR][1000 genomes]
rs452649	1.00[AFR][1000 genomes]
rs459265	1.00[AFR][1000 genomes]
rs57965798	1.00[AFR][1000 genomes]
rs710169	1.00[AFR][1000 genomes]
rs71314788	1.00[AFR][1000 genomes]
rs861819	1.00[AFR][1000 genomes]
rs861822	1.00[AFR][1000 genomes]
rs9609947	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv516806	chr22:21982892-21997070	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
15	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21980600-21984800	Enhancers	Fetal Brain Male	brain
2	chr22:21982800-21984600	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr22:21982800-21984600	Active TSS	Fetal Brain Female	brain
4	chr22:21983000-21984600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:21983000-21984600	Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr22:21983000-21984600	Active TSS	Duodenum Mucosa	Duodenum
7	chr22:21983000-21984600	Active TSS	GM12878-XiMat	blood
8	chr22:21983000-21984600	Active TSS	Hela-S3	cervix
9	chr22:21983200-21984600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:21983200-21984600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:21983200-21984600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:21983200-21984600	Active TSS	Brain Hippocampus Middle	brain
13	chr22:21983200-21984600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr22:21983200-21984600	Active TSS	Rectal Smooth Muscle	rectum
15	chr22:21983400-21984600	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr22:21983400-21984600	Active TSS	A549	lung
17	chr22:21983400-21984600	Active TSS	HSMMtube	muscle
18	chr22:21983600-21984600	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr22:21983600-21984600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr22:21983600-21984600	Active TSS	Thymus	Thymus
21	chr22:21983600-21984800	Active TSS	NHEK	skin
22	chr22:21983800-21984600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:21983800-21984600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr22:21983800-21984600	Active TSS	Brain Anterior Caudate	brain
25	chr22:21983800-21984600	Active TSS	Brain Germinal Matrix	brain
26	chr22:21983800-21984600	Active TSS	HSMM	muscle
27	chr22:21983800-21984800	Active TSS	Brain Angular Gyrus	brain
28	chr22:21983800-21985000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:21984000-21984600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:21984000-21984600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr22:21984000-21984600	Active TSS	Brain Cingulate Gyrus	brain
32	chr22:21984000-21984600	Active TSS	Colon Smooth Muscle	Colon
33	chr22:21984000-21984600	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr22:21984000-21984600	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr22:21984000-21984600	Active TSS	Osteobl	bone
36	chr22:21984000-21984800	Active TSS	Stomach Smooth Muscle	stomach
37	chr22:21984000-21984800	Active TSS	K562	blood
38	chr22:21984200-21984600	Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr22:21984200-21984600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr22:21984200-21984600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:21984200-21984600	Active TSS	HepG2	liver
42	chr22:21984200-21984800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr22:21984200-21984800	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr22:21984400-21984600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr22:21984400-21984600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr22:21984400-21984600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr22:21984400-21984600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr22:21984400-21984600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr22:21984400-21984600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:21984400-21984600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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