Variant report

Variant	rs3747091
Chromosome Location	chr22:21983766-21983767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:647)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr22:21983562-21984506	HepG2	liver:	n/a	n/a
2	SIX5	chr22:21983327-21984026	K562	blood:	n/a	n/a
3	REST	chr22:21983514-21983925	HepG2	liver:	n/a	n/a
4	MAZ	chr22:21983496-21984569	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:21982760-21984539	NB4	blood:	n/a	n/a
6	PAX5	chr22:21983167-21983849	GM12878	blood:	n/a	n/a
7	TCF12	chr22:21983443-21983883	A549	lung:	n/a	n/a
8	HMGN3	chr22:21982380-21984639	K562	blood:	n/a	n/a
9	USF2	chr22:21983312-21984585	K562	blood:	n/a	chr22:21984395-21984411
10	MAX	chr22:21983312-21984595	GM12878	blood:	n/a	n/a
11	CTCF	chr22:21983386-21983840	MCF-7	breast:	n/a	n/a
12	BACH1	chr22:21983243-21984544	K562	blood:	n/a	n/a
13	POLR2A	chr22:21980580-21984939	K562	blood:	n/a	n/a
14	CTCF	chr22:21983620-21983770	HepG2	liver:	n/a	n/a
15	RUNX3	chr22:21983152-21984635	GM12878	blood:	n/a	n/a
16	CTCF	chr22:21983620-21983770	GM12870	blood:	n/a	n/a
17	MAZ	chr22:21983386-21984586	GM12878	blood:	n/a	n/a
18	STAT3	chr22:21983516-21983847	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F6	chr22:21982481-21984627	K562	blood:	n/a	chr22:21983082-21983094
20	POLR2A	chr22:21983635-21983806	Gliobla	brain:	n/a	n/a
21	POLR2A	chr22:21982968-21984511	MCF10A-Er-Src	breast:	n/a	n/a
22	MTA3	chr22:21983084-21984523	GM12878	blood:	n/a	n/a
23	TRIM28	chr22:21983363-21983921	K562	blood:	n/a	n/a
24	TAF1	chr22:21983623-21984029	H1-neurons	neurons:	n/a	n/a
25	IRF4	chr22:21983334-21983877	GM12878	blood:	n/a	n/a
26	CTCF	chr22:21982333-21984660	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
27	CTCF	chr22:21982359-21984783	K562	blood:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
28	MYC	chr22:21983410-21983919	HepG2	liver:	n/a	n/a
29	CTCF	chr22:21983620-21983770	GM12875	blood:	n/a	n/a
30	POLR2A	chr22:21982137-21984611	GM18505	blood:	n/a	n/a
31	GABPA	chr22:21983191-21984602	K562	blood:	n/a	n/a
32	CTBP2	chr22:21983512-21984602	H1-hESC	embryonic stem cell:	n/a	n/a
33	NFIC	chr22:21983535-21983908	HepG2	liver:	n/a	n/a
34	TAF1	chr22:21983540-21984536	H1-neurons	neurons:	n/a	n/a
35	POLR2A	chr22:21983160-21984507	A549	lung:	n/a	n/a
36	ELF1	chr22:21982929-21984644	HCT-116	colon:	n/a	chr22:21983202-21983211 chr22:21983202-21983213 chr22:21983178-21983187 chr22:21983203-21983212 chr22:21983202-21983213
37	POLR2A	chr22:21983341-21984566	PFSK-1	brain:	n/a	n/a
38	RCOR1	chr22:21983594-21984557	HepG2	liver:	n/a	n/a
39	CTCF	chr22:21983061-21984772	SK-N-SH	brain:	n/a	chr22:21984429-21984447 chr22:21984430-21984446
40	MAX	chr22:21983179-21984580	SK-N-SH	brain:	n/a	n/a
41	GABPA	chr22:21983530-21984003	SK-N-SH	brain:	n/a	n/a
42	ELK4	chr22:21983317-21983899	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr22:21983640-21983790	MCF-7	breast:	n/a	n/a
44	CTCF	chr22:21983620-21983770	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr22:21983525-21983878	GM12878	blood:	n/a	n/a
46	MAZ	chr22:21983324-21984600	IMR90	lung:	n/a	n/a
47	ELF1	chr22:21983446-21984191	A549	lung:	n/a	n/a
48	POLR2A	chr22:21983233-21984466	A549	lung:	n/a	n/a
49	MAX	chr22:21983374-21984595	H1-hESC	embryonic stem cell:	n/a	n/a
50	EGR1	chr22:21982323-21984614	K562	blood:	n/a	chr22:21984287-21984301

No data

(count:24 , 50 per page) page: 1

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	chr22:21983584..21984158-chr3:45698398..45699037,2	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	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
8	chr22:21353932..21358932-chr22:21981928..21985927,5	K562	blood:
9	chr22:21821085..21824065-chr22:21983565..21985249,2	K562	blood:
10	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:
11	chr22:21368598..21370649-chr22:21982712..21985008,2	K562	blood:
12	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
13	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:
14	chr22:21921535..21923886-chr22:21982326..21985629,8	MCF-7	breast:
15	chr12:120728150..120730053-chr22:21983081..21985244,2	K562	blood:
16	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
17	chr22:21983742..21984262-chr5:180649947..180650645,2	Hela-S3	cervix:
18	chr22:19465446..19467625-chr22:21981920..21983974,2	K562	blood:
19	chr1:207108624..207109427-chr22:21983382..21984196,2	MCF-7	breast:
20	chr22:21982768..21985323-chr22:22291461..22294984,4	K562	blood:
21	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
22	chr1:11968224..11970573-chr22:21982926..21985851,3	K562	blood:
23	chr22:21982497..21985083-chr22:22004368..22006741,4	MCF-7	breast:
24	chr1:52520634..52521162-chr22:21983372..21984220,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CCDC116	TF binding region
ENSG00000099942	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000099917	Chromatin interaction
ENSG00000185651	Chromatin interaction
ENSG00000099957	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000146063	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000093009	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000206176	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000117862	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000206140	Chromatin interaction
ENSG00000070010	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11704601	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11705259	1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs128477	1.00[MEX][hapmap]
rs131666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs181364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs181365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34592211	1.00[ASW][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs35113423	1.00[AFR][1000 genomes]
rs35844718	1.00[AFR][1000 genomes]
rs372108	1.00[AFR][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]
rs400317	0.89[EUR][1000 genomes]
rs402225	1.00[AFR][1000 genomes]
rs416661	1.00[ASW][hapmap]
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[ASW][hapmap];1.00[AFR][1000 genomes]
rs459265	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[AFR][1000 genomes]
rs467181	1.00[MEX][hapmap]
rs57965798	1.00[AFR][1000 genomes]
rs710169	1.00[AFR][1000 genomes]
rs71314788	1.00[AFR][1000 genomes]
rs861817	1.00[ASW][hapmap]
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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3747091	ENSG00000161179	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21980600-21984800	Enhancers	Fetal Brain Male	brain
2	chr22:21981400-21984200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr22:21982200-21984200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr22:21982400-21983800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:21982600-21983800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
6	chr22:21982600-21983800	Flanking Active TSS	HMEC	breast
7	chr22:21982600-21984000	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
8	chr22:21982600-21984400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr22:21982800-21984600	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr22:21982800-21984600	Active TSS	Fetal Brain Female	brain
11	chr22:21983000-21984000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:21983000-21984400	Active TSS	H9 Cell Line	embryonic stem cell
13	chr22:21983000-21984400	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr22:21983000-21984400	Active TSS	Fetal Intestine Large	intestine
15	chr22:21983000-21984600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr22:21983000-21984600	Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr22:21983000-21984600	Active TSS	Duodenum Mucosa	Duodenum
18	chr22:21983000-21984600	Active TSS	GM12878-XiMat	blood
19	chr22:21983000-21984600	Active TSS	Hela-S3	cervix
20	chr22:21983200-21983800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr22:21983200-21983800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:21983200-21983800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr22:21983200-21983800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:21983200-21983800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr22:21983200-21983800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:21983200-21983800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:21983200-21983800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr22:21983200-21983800	Flanking Active TSS	Lung	lung
29	chr22:21983200-21983800	Transcr. at gene 5' and 3'	Placenta Amnion	Placenta Amnion
30	chr22:21983200-21983800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr22:21983200-21983800	Flanking Active TSS	Spleen	Spleen
32	chr22:21983200-21983800	Flanking Active TSS	HepG2	liver
33	chr22:21983200-21984000	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr22:21983200-21984000	Flanking Active TSS	HUVEC	blood vessel
35	chr22:21983200-21984000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr22:21983200-21984200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr22:21983200-21984200	Flanking Active TSS	Right Ventricle	heart
38	chr22:21983200-21984400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr22:21983200-21984400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr22:21983200-21984400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr22:21983200-21984400	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr22:21983200-21984400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr22:21983200-21984400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:21983200-21984400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr22:21983200-21984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:21983200-21984400	Active TSS	Brain Substantia Nigra	brain
47	chr22:21983200-21984400	Active TSS	Fetal Intestine Small	intestine
48	chr22:21983200-21984400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr22:21983200-21984400	Active TSS	NHLF	lung
50	chr22:21983200-21984600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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